This paper challenges the common assumption that some phenotypic traits are quantitative while others are qualitative. The distinction between these two kinds of traits is widely influential in biological and biomedical research as well as in scientific education and communication. This is probably due to both historical and epistemological reasons. However, the quantitative/qualitative distinction involves a variety of simplifications on the genetic causes of phenotypic variability and on the development of complex traits. Here, I examine (...) three cases from the life sciences that show inconsistencies in the distinction: Mendelian traits, Mendelian diseases, and polygenic mental disorders. I show that these traits can be framed both quantitatively and qualitatively depending, for instance, on the methods through which they are investigated and on specific epistemic purposes. This suggests that the received view of quantitative and qualitative traits has a limited heuristic power—limited to some local contexts or to the specific methodologies adopted. Throughout the paper, I provide directions for framing phenotypes beyond the quantitative/qualitative distinction. I conclude by pointing at the necessity of developing a principled characterisation of what phenotypic traits, in general, are. (shrink)

The development of improved methods for genome‐wide association studies (GWAS) for genetics of quantitative traits has been an active area of research during the last 25 years. This activity initially started with the use of mixed linear model (MLM), which was variously modified. During the last decade, however, with the availability of high throughput next generation sequencing (NGS) technology, development and use of pangenomes and novel markers including structural variations (SVs) and k‐mers for GWAS has taken over as (...) a new thrust area of research. Pangenomes and SVs are now available in humans, livestock, and a number of plant species, so that these resources along with k‐mers are being used in GWAS for exploring additional genetic variation that was hitherto not available for analysis. These developments have resulted in significant improvement in GWAS methodology for detection of marker‐trait associations (MTAs) that are relevant to human healthcare and crop improvement. (shrink)

In lieu of an abstract, here is a brief excerpt of the content:IntroductionConformément à la tradition des commentateurs de la Physique d'Aristote au xiiie siècle, Walter Burley a étudié avant 1320 de façon approfondie le rapport entre matière, substance et quantité en reprenant avec exhaustivité les théories avicénienne et averroïste sur la quantification de la matière première. Selon Avicenne, la matière est dimensionnée grâce à une forme inséparable d'elle et éternelle appartenant à la catégorie de substance. Contrairement à Avicenne, Averroès, (...) auquel se réfère Burley le plus souvent, soutient que la matière pourrait être quantifiée par une autre forme corporelle distincte d'elle ou dimension indéterminée qui serait de nature quantitative et accidentelle et donnerait à la matière son extension et sa capacité à recevoir différentes formes. L'objet de cette étude est de montrer que la première partie du Traité des formes réunit les principales sources sur les théories quantitatives de la matière chez Burley et témoigne d'un averroïsme teinté d'éclectisme. Nous présenterons d'abord l'économie générale de la première partie du Traité des formes et les foyers d'émergence de ces différentes théories. Nous mettrons alors en évidence trois conceptions parfois contradictoires de Burley sur la nature de ces dimensions, avant d'exposer un exemple remarquable d'averroïsme dans la discussion sur la composition des corps mixtes.les foyers d'emergence des theories quantitatives de la matiere dans le traite La première partie du Traité des formes est consacrée à l'étude de la matière et des différentes formes qu'elle reçoit lors de la génération et de la corruption. Elle présente six volets principaux dans sa structure d'ensemble: une première définition de la matière, une définition de la forme substantielle, un approfondissement de la nature de la matière première, une étude sur les conditions de réception des formes par la matière, un inventaire des difficultés sur la coexistence des différentes formes dans la matière, une longue conclusion sur le statut des formes accidentelles et le statut des universaux.Les différentes conceptions des dimensions indéterminées apparaissent dans le second, le quatrième, puis le sixième volet. Dans la seconde partie, Burley définit la nature de la forme substantielle, qui est la matière perfectionnée et non la quiddité du composé ou la forme accidentelle. La forme substantielle confère l'essence à ce qui est, elle perfectionne immédiatement la matière, alors que la forme accidentelle perfectionne immédiatement le composé. Burley recourt à la doctrine des dimensions indéterminées en exposant deux versions différentes qu'il rend complémentaires, la version averroïste et la version égidienne. Dans la quatrième étape du traité, Burley présente la théorie d'Avicenne selon lequel les dimensions indéterminées présentent une forme de corporéité inséparable de la matière lui permettant la réception des formes. Dans la sixième et dernière partie, Burley utilise la théorie d'Averroès contre Avicenne dans deux aspects de la discussion sur la composition des corps mixtes: la subsistance des formes élémentaires dans la matière des corps mixtes, puis dans les changements substantiel et qualitatif.Les trois conceptions des dimensions indeterminees dans le traiteLa position éclectique de Burley: une résistance traditionnelle à la conception averroïsteBurley reprend le plus souvent la théorie averroïste des dimensions indéterminées mais, comme la majorité de ses contemporains, Burley peine à admettre que des accidents inhérents à la matière puissent précéder le principe de la génération, la forme substantielle, qui donne l'être à tout ce qui advient dans la matière. Dans la seconde partie du traité, avant d'introduire la doctrine averroïste sur les dimensions indéterminées, Burley rappelle l'ordre ontologique entre forme substantielle et forme accidentelle dans la perfection de la matière:A propos de la forme qui parfait la matière, il faut savoir qu'une forme, d'une part, parfaisant la matière est substantielle, et qu'une autre forme, d'autre part, est accidentelle, et qu'entre ces deux formes existe une double différence. La première différence est que la forme substantielle donne l'être simple au composé dont elle est la forme, alors que la forme accidentelle donne l'être selon.. (shrink)

La 4e de couv. indique : "La qualité est l'enjeu du siècle : qualité de l'air, de l'alimentation, des soins, des relations, du travail, de l'industrie ou du pouvoir... Le terme s'est immiscé dans tous les domaines où un jugement de valeur est nécessaire, au point de détrôner les figures traditionnelles du bien et du bon. Précisons que son contraire, le "merdique", est lui aussi en passe de devenir un invariant culturel. Pour savoir ce que cache ce mot du contemporain, (...) il faut se tourner vers les qualités humaines et leur impressionnante diversité, comprendre comment notre espace-temps est devenu un monde de qualités artificielles, assister aux chocs de la qualité et de la quantité, et voir comment les standards de contrôle font l'objet d'une lutte économique et politique omniprésente. Dans ce cadre fortement contraint par notre âge technique, une philosophie ouverte aura à cœur de se recentrer sur les libres qualités, celles que l'on cultive pour la saveur de vivre. Car le défi de notre époque est bien d'articuler la valeur qualité aux exigences de liberté et aux besoins de justice. L'enjeu est de taille, pour peu que l'on veuille construire un monde commun, où les existences soient à même de prospérer.". (shrink)

The research aim was to find out whether the personality trait that using the big five personality factors were significantly and positively correlated with attitude toward performance appraisal system. Method for this research is quantitative and non experimental with correlation research design. A hundred ten (110) TransJakarta bus drivers who have worked minimum for a year, completed the big five scale NEO PI-R and the attitude toward performance appraisal system scale. Among the big five personality facet level, two aspects (...) of openness, aesthetics rs(110) = .22 and ideas rs(110) = .19 were positively related to attitude toward performance appraisal system. Within the conscientiousness dimension, dutifulness rs(110) = .22 and achievement striving rs(110) = .21 were significantly and positively correlated with attitude toward performance appraisal system. Within the extraversion dimension excitement seeking rs(110) .21 and positive emotion rs(110) = .23 were significantly and positively correlated with attitude toward performance appraisal system Finally, these result is recommended to be used in TransJakarta bus drive recruitment process, so that the management would get the best drivers whose performance match to the company expected. Furthermore the service to the society could increase and become a model for another public transportation company.  . (shrink)

How do common and rare genetic polymorphisms contribute to quantitative traits or disease risk and progression? Multiple human traits have been extensively characterized at the genomic level, revealing their complex genetic architecture. However, it is difficult to resolve the mechanisms by which specific variants contribute to a phenotype. Recently, analyses of variant effects on molecular traits have uncovered intermediate mechanisms that link sequence variation to phenotypic changes. Yet, these methods only capture a fraction of genetic contributions (...) to phenotype. Here, in reviewing the field, it is proposed that complex traits can be understood by characterizing the dynamics of biochemical networks within living cells, and that the effects of genetic variation can be captured on these networks by using protein–protein interaction (PPI) methodologies. This synergy between PPI methodologies and the genetics of complex traits opens new avenues to investigate the molecular etiology of human diseases and to facilitate their prevention or treatment. (shrink)

In this article, we tried to reveal the relationship between personality traits and escape behavior in traffic accidents. Different from common computer simulations, this study, for the first time, established a real database recording the escape behavior and personality traits of subjects when watching a first-person-view driving video with explosion. Then, we used a modeling method of general linear to establish a quantitative model of the influence of personality traits, explosion, and their interaction on escape behavior. (...) In the model, we introduced escape response time, escape time, escape direction, escape speed, escape trajectory, and other motion characteristics to study individual escape behavior in accidents. Through the analysis, we concluded several conclusions, including that high neurotic individuals tend to escape with shorter response time and slower speed by choosing doors far from the explosion source. These conclusions may provide some references for the effective escape of the crowd and the successful escape of the individual under traffic accidents. (shrink)

Suscités par la reprise massive de la recherche en astronomie au IXe siècle dans le monde islamique et essentiellement à Bagdad, laquelle nécessite des outils mathématiques nouveaux, une floraison de traités, tant astronomiques que mathématiques, voit le jour à cette époque. D'entre les traités mathématiques, un certain nombre est consacré à la ‘‘figure secteur”, c’est-à-dire au théorème dit ‘‘de Ménélaüs” sur la sphère, lequel généralise le théorème dit ‘‘de Ménélaüs” dans le plan. Ce théorème de Ménélaüs sur la sphère, ou (...) règle des six quantités, est, en l’absence du théorème des sinus sur la sphère, lequel ne date que de la deuxième moitié du Xe siècle, le principal outil de l'astronomie sphérique. Le traité de Thābit ibn Qurra sur La figure secteur est le premier de ces traités consacrés au théorème de Ménélaüs, tant dans le plan que sur la sphère, à nous être parvenu; point de départ de tout un courant, il influencera profondément le développement ultérieur de la géométrie sphérique. Ce traité, qui est en fait une épître adressée à un correspondant malheureusement anonyme, présente en outre l'intérêt de montrer que, dans le milieu scientifique de cette époque à Bagdad, beaucoup s'intéressaient à ce théorème, essayaient d'en énoncer d'autres cas de figure et de compléter la démonstration qu'en donne Ptolémée dans l'Almageste. (shrink)

Personality is a relatively regular habit of a person. It exerts a specific influence on personal behavior and the corresponding results. At the same time, personality can provide a certain degree of explanation for the differences among individuals in behavior and the related consequences. Economic differences are one of the discrepancies that exist among individuals. In order to explore the quantitative relationship between personality and individual income, this study takes 376 active employees of Chinese startups as the primary research (...) objects. Additionally, considering the simplification and convenience of the survey, the annual salary investigated by this study is the pre-tax income of active startup employees. It uses quantitative methods to analyze the relationship between their personality traits and annual salary. Unlike the measures used in previous studies, this study employed the HEXACO-60 Inventory created by Ashton and Lee to investigate employees’ personality traits. Compared to the Big Five model, HEXACO (Honesty-Humility, Emotionality, eXtraversion, Consciousness, Open to Experience, and Agreeableness) adds a new dimension to evaluate personality traits, called Honesty-Humility (H-H). H-H did not appear in previous studies related to personality and individual income. Therefore, there is no reference to the relationship between H-H and personal earnings. Considering that the content of H-H is highly consistent with the components of inter locus of control and the core spirit advocated by the Confucian culture, which influences Chinese people profoundly, this paper proposes a bold hypothesis, that is, H-H has a positive correlation with employees’ annual salaries. Meanwhile, other corresponding hypotheses for the correlation between the other personality traits in HEXACO and employees’ annual salaries are proposed. After that, the above hypotheses are tested with the help of correlation analysis. Then, the following conclusions can be quickly drawn. Consciousness, eXtraversion, Open to Experience, and Honesty-Humility positively correlate with employees’ annual salaries. In comparison, Emotionality and Agreeableness negatively correlate with employees’ annual salaries. (shrink)

Aristotle's doctrine of the mean is expressed in quantitative terms, but this has been hard for some people to take literally, its more elaborate versions sometimes being described as “extremely silly.” Roughly two books of the Nicomachean Ethics are permeated with talk of character traits which are either deficient or excessive, however, and the aim of this paper is to examine how the doctrine might meet the objections of its critics.

The aim of this virtual special issue is to bring together philosophical and historical perspectives to address long-standing issues in the interpretation, utility, and impacts of quantitative genetics methods and findings. Methodological approaches and the underlying scientific understanding of genetics and heredity have transformed since the field's inception. These advances have brought with them new philosophical issues regarding the interpretation and understanding of quantitative genetic results. The contributions in this issue demonstrate that there is still work to be (...) done integrating old and new methodological and conceptual frameworks. In some cases, new results are interpreted using assumptions based on old concepts and methodologies that need to be explicitly recognised and updated. In other cases, new philosophical tools can be employed to synthesise historical quantitative genetics work with modern methodologies and findings. This introductory article surveys three general themes that have dominated philosophical discussion of quantitative genetics throughout history: (1) how methodologies have changed and transformed our knowledge and interpretations; (2) whether or not quantitative genetics can offer explanations relating to causation and prediction; and (3) the importance of defining the phenotypes under study. We situate the contributions in this virtual special issue within a historical framework addressing these three themes. (shrink)

Quantitative genetics (QG) analyses variation in traits of humans, other animals, or plants in ways that take account of the genealogical relatedness of the individuals whose traits are observed. “Classical” QG, where the analysis of variation does not involve data on measurable genetic or environmental entities or factors, is reformulated in this article using models that are free of hypothetical, idealized versions of such factors, while still allowing for defined degrees of relatedness among kinds of individuals or (...) “varieties.” The gene - free formulation encompasses situations encountered in human QG as well as in agricultural QG. This formulation is used to describe three standard assumptions involved in classical QG and provide plausible alternatives. Several concerns about the partitioning of trait variation into components and its interpretation, most of which have a long history of debate, are discussed in light of the gene-free formulation and alternative assumptions. That discussion is at a theoretical level, not dependent on empirical data in any particular situation. Additional lines of work to put the gene-free formulation and alternative assumptions into practice and to assess their empirical consequences are noted, but lie beyond the scope of this article. The three standard QG assumptions examined are: (1) partitioning of trait variation into components requires models of hypothetical, idealized genes with simple Mendelian inheritance and direct contributions to the trait; (2) all other things being equal, similarity in traits for relatives is proportional to the fraction shared by the relatives of all the genes that vary in the population (e.g., fraternal or dizygotic twins share half of the variable genes that identical or monozygotic twins share); (3) in analyses of human data, genotype-environment interaction variance (in the classical QG sense) can be discounted. The concerns about the partitioning of trait variation discussed include: the distinction between traits and underlying measurable factors; the possible heterogeneity in factors underlying the development of a trait; the kinds of data needed to estimate key empirical parameters; and interpretations based on contributions of hypothetical genes; as well as, in human studies, the labeling of residual variance as a non-shared environmental effect; and the importance of estimating interaction variance. (shrink)

This study attempted to explore the personality traits of higher achievers at the university level. The core objective of this investigation was to illustrate the nature of personality traits of the higher achievers’ students. To study this phenomenon, a quantitative research approach was used. The students were chosen by using a purposive sampling technique and included 758 high achievers enrolled in various programs at the Chinese universities. Based on the Hexaco model of personality, a questionnaire was used (...) to gather information from respondents as a research tool to examine the personality traits of position holders after an extensive review of the relevant literature. Tool validity was determined by following the face, content, construct validation process. This investigation concluded that honesty, emotionality, and openness to experience were very high among the higher achievers’ students. Only honesty in female higher achievers’ students was significantly high than male, remaining factors “extraversion, agreeableness, conscientiousness, and openness to experience” were significantly high among male higher achievers’ students. Moreover, the higher achievers of science group students were more extraversion, agreeableness, and conscientiousness than arts group students. However, higher achievers in hostels were more emotional and agreeableness than the day scholars. Overall step-wise regression analysis, indicated that agreeableness and extraversion factor has significant influence on higher achievers. (shrink)

Dans les traités conclus avec les Étoliens en 189 et avec Antiochos III en 188, les Romains exigent d'être payés en monnaies d'argent d'aussi bonne qualité que la monnaie d'Athènes, universellement connue. La quantité de métal monnayé est également précisée, dans le premier traité en talents euboïques, dans le second en talents de 80 livres romaines, qui sont des unités équivalentes. Les Romains réclament expressément d'être payés, pour tout ou du moins une large part de l'indemnité, non en monnaies d'or (...) mais en monnaies d'argent, car ce sont elles qui constituaient le moyen habituel des échanges. La ratio or/argent prescrite est de 1 : 10, respectant le taux courant à l'époque dans cette partie du monde grec. (shrink)

The big five personality traits and entrepreneurial mindset are crucial individual-level elements that determine entrepreneurial intention. This study examines the impact of big five personality traits and EM, on EI using the theory of planned behavior. Besides, this study examined the role of entrepreneurial self-efficacy and attitude toward entrepreneurship influences EI. To achieve the research objectives, a quantitative approach was used. Structural equation modeling and path analysis were conducted using SmartPLS software. Data were collected from 270 respondents (...) through online questionnaires. Findings of the study revealed that big five personality traits influence ESE and ATE which led to EI. Finally, the moderating role of entrepreneurial passion was also found to have strong effect on influence ESE and ATE. This study offers evidence and insights that academics, educators, and others involved in the creation or expansion of entrepreneurial knowledge can use as a reference point. (shrink)

We evaluate the consistency of different constructs affecting risk attitude in individuals’ decisions across different levels of risk. Specifically, we contrast views suggesting that risk attitude is a single primitive construct with those suggesting it consists of multiple latent components. Additionally, we evaluate such constructs as sensitivity to losses, diminishing sensitivity to increases in payoff, sensitivity to variance, and risk acceptance (the willingness to accept probable outcomes over certainty). In search of trait-like constructs, the paper reviews experimental results focusing on (...) the consistency of these constructs in different tasks as well as their temporal consistency. Overall, the findings show that the most consistent factor is risk acceptance, and they also demonstrate its potential boundaries. These results are modeled with a simple quantitative index of subjective risk. A survey of decisions under risk further reveals that participants exhibit almost no consistency across different tasks in this setting, highlighting the advantage of experiential tasks for studying individual differences. (shrink)

This research paper explores the implications of emotional intelligence and the Big Five personality model on virtual team effectiveness. It illustrates how emotional intelligence and Big Five personality traits help team members better understand interpersonal relationships and develop constructive virtual teams. The widespread use of virtual team meetings for collaborative work over in-person interaction with diverse personalities creates discord and trust among team members, limiting overall productivity. A quantitative analysis approach is used, with hypotheses tested and a series (...) of multiple linear regression analyses performed on data collected from relevant industries using convenient sampling. The findings show that the Big Five personality affects the virtual team's trust and collaboration parameters. However, the relationship between personality traits and team effectiveness is mediated by emotional intelligence. Also, it is explored that having control over emotional intelligence or developing emotional intelligence would improve team performance while managing and working with a diverse group of people. (shrink)

We carried out a systematic review of psycholinguistic, empirical, quantitative studies on verbal irony use and individual differences (i.e. psychological, not demographic, traits that significantly differentiate individuals). Out of 5,967 publications screened, 29, comprising 35 studies in total, were included. Following a qualitative content analysis, six thematic clusters were identified, representing areas of research in individual differences in irony use: (a) psychological well-being, (b) personality traits, (c) humor-related traits, (d) cultural factors, (e) social skills, and (f) (...) cognitive factors. The results of the studies in each cluster are summarized and conclusions for further research are presented. In particular, the systematic review suggests that irony and sarcasm should be clearly delineated as separate, yet related phenomena due to differing patterns of correlations with specific individual differences. Additionally, significant methodological heterogeneity between the studies suggests the need for greater standardization of irony use measures. (shrink)

The nomination of candidate genes underlying complex traits is often focused on genetic variations that alter mRNA abundance or result in non‐conservative changes in amino acids. Although inconspicuous in complex trait analysis, genetic variants that affect splicing or RNA editing can also generate proteomic diversity and impact genetic traits. Indeed, it is known that splicing and RNA editing modulate several traits in humans and model organisms. Using high‐throughput RNA sequencing (RNA‐seq) analysis, it is now possible to integrate (...) the genetics of transcript abundance, alternative splicing (AS) and editing with the analysis of complex traits. We recently demonstrated that both AS and mRNA editing are modulated by genetic and environmental factors, and potentially engender phenotypic diversity in a genetically segregating mouse population. Therefore, the analysis of splicing and RNA editing can expand not only the regulatory landscape of transcriptome and proteome complexity, but also the repertoire of candidate genes for complex traits. (shrink)

Background: Good nurses show concern for patients by caring for them effectively and attentively to foster their well-being. However, nurses cannot be taught didactically to be “good” or any trait that characterizes a good nurse. Nurses’ self-awareness of their role traits warrants further study. Objectives: This study aimed to develop a strategy to elicit nurses’ self-exploration of the importance of good nurse traits and to explore any discrepancies between such role traits perceived by nurses as ideally and (...) actually important. Research design: For this mixed-method study, we used good nurse trait card play to trigger nurses’ reflections based on clinical practice. Nurse participants appraised the ideal and actual importance of each trait using a Q-sort grid. The gap between the perceived ideal and actual importance of each trait was examined quantitatively, while trait-related clinical experiences were analyzed qualitatively. Participants and research context: Participants were 35 in-service nurses ; 10.1 years of nursing experience ) recruited from a teaching hospital in Taiwan. Ethical considerations: The study was approved by the Institutional Review Board of the study site. Findings: Good nurse trait card play with a Q-sort grid served as an icebreaker to help nurse participants talk about their experiences as embodied in good quality nursing care. Nurses’ perceived role–trait discrepancies were divided into three categories: over-performed, least discrepant, and under-performed. The top over-performed trait was “obedience.” Discussion: Patients’ most valued traits were perceived by participants as ideally important but were under-performed, perhaps due to experienced nurses’ loss of idealism. Conclusion: Good nurse trait card play with Q-sort grid elicited nurses’ self-dialogue and revealed evidence of the incongruity between nurses’ perceived ideal and actual importance of traits. The top over-performed trait, “obedience,” deserves more study. (shrink)

Both economists and psychologists are interested in understanding decision making under uncertainty. Yet, they rely on different concepts to analyse human behaviour: economists use economic preference parameters rooted in utility theory, while psychologists use personality traits to describe responses to uncertain situations. Using a large sample of university students, this study examines and contrasts five economic preference parameters and six psychological personality traits that are commonly used to study individuals’ attitudes towards uncertainty. A novelty of this paper is (...) including both the economic concept of ambiguity aversion as well as the personality trait of ambiguity intolerance. We find that standard economic preference measures based on incentivized choice tasks seem to capture rather different characteristics than psychological personality traits. In contrast, economic preference measures obtained from self-assessment questions appear more related to personality traits, especially ambiguity intolerance. (shrink)

Background: Personality pathology does not have to be a contraindication to a bariatric surgery if a proper pre-surgical assessment is done. Indicating subgroups of patients with their specific needs could help tailor interventions and improve surgical treatment outcomes.Objectives: Using the Alternative DSM-5 model for personality disorders and the ICD-11 model for PDs to detect subgroups of patients with obesity based on a specific constellation of maladaptive personality traits and the level of overall personality impairment.Methods: 272 consecutively consented patients who (...) underwent a standard pre-surgical psychological assessment. The majority were women, age range was 22–79 years. Patients’ average body mass index was 43.95 kg/m2. All participants were administered the Personality Inventory for DSM-5 from which Level of Personality Functioning Scale-Self Report and Standardized Assessment of Severity of Personality Disorder scores were gained using the “crosswalk” for common metric for self-reported severity of personality disorder. The k-means clustering method was used to define specific subgroups of patients with obesity and replicated for equality testing to the samples of non-clinical respondents and psychiatric patients.Results: The cluster analysis detected specific groups in the sample of patients with obesity, which differed quantitatively from the samples of non-clinical respondents and psychiatric patients. A vast majority of patients with obesity showed above-average values in most of the PID-5 facets compared to the United States representative general community sample. In two out of the three clusters defined, patients demonstrated moderate to severe personality psychopathology within the Detachment and Negative Affectivity domains according to PID-5, which in one of the clusters corresponded to the mild overall impairment in both, LPFS-SR and SASPD. Moreover, higher levels of psychopathology prove to be associated with higher age and use of psychiatric medication.Conclusions: The dimensional DSM-5 and ICD-11 trait models are suitable procedures for defining specific “characters” of patients in a pre-bariatric setting. As such, they help to identify subgroups of patients with obesity who are different from general population and psychiatric patients. Implications for clinical practice and further research are discussed. (shrink)

Given that natural selection is so powerful at optimizing complex adaptations, why does it seem unable to eliminate genes (susceptibility alleles) that predispose to common, harmful, heritable mental disorders, such as schizophrenia or bipolar disorder? We assess three leading explanations for this apparent paradox from evolutionary genetic theory: (1) ancestral neutrality (susceptibility alleles were not harmful among ancestors), (2) balancing selection (susceptibility alleles sometimes increased fitness), and (3) polygenic mutation-selection balance (mental disorders reflect the inevitable mutational load on the thousands (...) of genes underlying human behavior). The first two explanations are commonly assumed in psychiatric genetics and Darwinian psychiatry, while mutation-selection has often been discounted. All three models can explain persistent genetic variance in some traits under some conditions, but the first two have serious problems in explaining human mental disorders. Ancestral neutrality fails to explain low mental disorder frequencies and requires implausibly small selection coefficients against mental disorders given the data on the reproductive costs and impairment of mental disorders. Balancing selection (including spatio-temporal variation in selection, heterozygote advantage, antagonistic pleiotropy, and frequency-dependent selection) tends to favor environmentally contingent adaptations (which would show no heritability) or high-frequency alleles (which psychiatric genetics would have already found). Only polygenic mutation-selection balance seems consistent with the data on mental disorder prevalence rates, fitness costs, the likely rarity of susceptibility alleles, and the increased risks of mental disorders with brain trauma, inbreeding, and paternal age. This evolutionary genetic framework for mental disorders has wide-ranging implications for psychology, psychiatry, behavior genetics, molecular genetics, and evolutionary approaches to studying human behavior. (Published Online November 9 2006) Key Words: adaptation; behavior genetics; Darwinian psychiatry; evolution; evolutionary genetics; evolutionary psychology; mental disorders; mutation-selection balance; psychiatric genetics; quantitative trait loci (QTL). (shrink)

This chapter contains section titled: The Relation of Genotype to Phenotype Statistical Approaches to the Study of Quantitative Characters Problems Raised by Statistical Methodologies Making Quantitative Trait Genes Real Bibliography.

Behaviors are quantitative traits determined through actions of multiple genes and subject to genome–environment interactions. Early studies concentrated on analyzing the effects of single genes on behaviors, often generating views of simplified linear genetic pathways. The genome era has generated a profound paradigm shift enabling us to identify all the genes that contribute to expression of a behavioral phenotype, to investigate how they are organized as functional ensembles and to begin to identify polymorphisms that contribute to phenotypic variation (...) and are targets for natural selection. Recent studies show that the genetic architecture of behavior is determined by dynamic and plastic modular networks of pleiotropic genes and that the behavioral phenotype manifests itself as an emergent property of such networks. Such networks are exquisitely sensitive to genetic background and sex effects. This review describes how Drosophila can serve as a model for uncovering fundamental principles of the genetic architecture of behavior. BioEssays 26:1299–1306, 2004. © 2004 Wiley Periodicals, Inc. (shrink)

The human gene pool displays exuberant genetic variation; this is normal for a sexual species. Even small isolated populations contain a large percentage of the total variability, emphasizing the basic genetic unity of our species. As modern man spread across the world from its African source, the genetic basis for man''s unique mental acuity was retained everywhere. Nevertheless, some geographical genetic variation such as skin color, stature and physiognomy was established. These changes were biologically relatively insignificant. Most of the genetic (...) load in the genome has been carried throughout the history of the species. There is little hope of purging all of these harmful genes; we must accept them and continue to treat their syndromes medically. All populations carry extensive genetic variation due to genes that encode variations in quantitative traits. Of greatest importance among these is ubiquitous polygenic variability in brain function and intelligence. Mental acuity is what sets us apart from the rest of the biological world. Throughout our history, genetic recombination among the many genes involved in brain function has occurred. This has provided a genetic basis for the action of natural selection that favors intelligence in meeting the demands of the environment. As environments change in the future, this type of genetic variability will continue to be a crucial resource. (shrink)

The model of human intelligence that is most widely adopted derives from psychometrics and behavioral genetics. This standard approach conceives intelligence as a general cognitive ability that is genetically highly heritable and describable using quantitative traits analysis. The paper analyzes intelligence within the debate on natural kinds and contends that the general intelligence conceptualization does not carve psychological nature at its joints. Moreover, I argue that this model assumes an essentialist perspective. As an alternative, I consider an HPC (...) theory of intelligence and evaluate how it deals with essentialism and with intuitions coming from cognitive science. Finally, I highlight some concerns about the HPC model as well, and conclude by suggesting that it is unnecessary to treat intelligence as a kind in any sense. (shrink)

According to a classical narrative, early geneticists, failing to see how Mendelism provides the missing pieces of Darwin’s theory, rejected gradual changes and advocated an implausible yet briefly popular view of evolution-by-mutation; after decades of delay (in which synthesis was prevented by personal conflicts, disciplinary rivalries, and anti-Darwinian animus), Darwinism emerged on a new Mendelian basis. Based on the works of four influential early geneticists – Bateson, de Vries, Morgan and Punnett –, and drawing on recent scholarship, we offer an (...) alternative that turns the classical view on its head. For early geneticists, embracing discrete inheritance and the mutation theory (for the origin of hereditary variation) did not entail rejection of selection, but rejection of Darwin’s non-Mendelian views of heredity and variation, his doctrine of natura non facit saltum, and his conception of “natural selection” as a creative force that shapes features out of masses of infinitesimal differences. We find no evidence of a delay in synthesizing mutation, rules of discrete inheritance, and selection in a Mendelian-Mutationist Synthesis. Instead, before 1918, early geneticists had conceptualized allelic selection, the Hardy–Weinberg equilibrium, the evolution of a quantitative trait under selection, the probability of fixation of a new mutation, and other key innovations. Contemporary evolutionary thinking seems closer to their more ecumenical view than to the restrictive mid-twentieth-century consensus known as the Modern Synthesis. (shrink)

This paper elaborates the hypothesis that the unique demography and sociology of Ashkenazim in medieval Europe selected for intelligence. Ashkenazi literacy, economic specialization, and closure to inward gene flow led to a social environment in which there was high fitness payoff to intelligence, specifically verbal and mathematical intelligence but not spatial ability. As with any regime of strong directional selection on a quantitative trait, genetic variants that were otherwise fitness reducing rose in frequency. In particular we propose that the (...) well-known clusters of Ashkenazi genetic diseases, the sphingolipid cluster and the DNA repair cluster in particular, increase intelligence in heterozygotes. Other Ashkenazi disorders are known to increase intelligence. Although these disorders have been attributed to a bottleneck in Ashkenazi history and consequent genetic drift, there is no evidence of any bottleneck. Gene frequencies at a large number of autosomal loci show that if there was a bottleneck then subsequent gene flow from Europeans must have been very large, obliterating the effects of any bottleneck. The clustering of the disorders in only a few pathways and the presence at elevated frequency of more than one deleterious allele at many of them could not have been produced by drift. Instead these are signatures of strong and recent natural selection. (shrink)

Can a heritability value tell us something about the weight of genetic versus environmental causes that have acted in the development of a particular individual? Two possible questions arise. Q1: what portion of the phenotype of X is due to its genes and what portion to its environment? Q2: what portion of X’s phenotypic deviation from the mean is a result of its genetic deviation and what portion a result of its environmental deviation? An answer to Q1 provides the full (...) information about X’s development, while an answer to Q2 leaves out a large portion unexplained—that portion which corresponds to the phenotypic mean. Q1 is unanswerable, but I show it is nevertheless legitimate under certain quantitative genetics models. With regard to Q2, opinions in the philosophical and biological literature differ as to its legitimacy. I argue that not only is it legitimate, but in particular, under a few simplifying assumptions, it allows for a quantitative probabilistic answer: for normally distributed quantitative traits with no G-E correlation or statistical G × E interaction, we can assess the probability that X’s genes had a greater effect than its environment on its deviation from the mean population value. This probability is expressed as a function the heritability and the individual’s phenotypic value; we can also provide a quantitative probabilistic answer to Q2 for an arbitrary individual where the probability is a function only of heritability. (shrink)

The Plant Ontology (PO; http://www.plantontology.org/) is a publicly-available, collaborative effort to develop and maintain a controlled, structured vocabulary (“ontology”) of terms to describe plant anatomy, morphology and the stages of plant development. The goals of the PO are to link (annotate) gene expression and phenotype data to plant structures and stages of plant development, using the data model adopted by the Gene Ontology. From its original design covering only rice, maize and Arabidopsis, the scope of the PO has been expanded (...) to include all green plants. The PO was the first multi-species anatomy ontology developed for the annotation of genes and phenotypes. Also, to our knowledge, it was one of the first biological ontologies that provides translations (via synonyms) in non-English languages such as Japanese and Spanish. There are about 2.2 million annotations linking PO terms to over 110,000 unique data objects representing genes or gene models, proteins, RNAs, germplasm and Quantitative Traits Loci (QTLs) from 22 plant species. In this paper, we focus on the plant anatomical entity branch of the PO, describing the organizing principles, resources available to users, and examples of how the PO is integrated into other plant genomics databases and web portals. We also provide two examples of comparative analyses, demonstrating how the ontology structure and PO-annotated data can be used to discover the patterns of expression of the LEAFY (LFY) and terpene synthase (TPS) gene homologs. (shrink)

Although neither the genome nor the environment can be manipulated in research on human behaviour, some of the new tools of molecular genetics can be brought to bear on human behavioural disorders (e.g. cognitive disabilities) and quantitative traits (e.g. cognitive abilities). The inability to manipulate the human genome experimentally has had the positive effect of focusing attention on naturally occuring genetic variation responsible for behavioural differences among individuals in all their complex multifactorial splendour. Genes in such complex multiple‐gene (...) systems are called quantitative trait loci (QTLs), which merge the two worlds of genetic research, quantitative genetics and molecular genetics. Although most genetic research on complex human behaviour has focused on severe mental disorders, cognitive abilities and disabilities may be even more immediately relevant to neuroscience. For example, verbal ability and spatial ability are two of the most heritable cognitive abilities, and reading disability is the first behavioural disability for which replicated QTL linkage has been found. The purpose of this essay is to provide an overview of the genetics of cognitive abilities and disabilities as an example of the impending merger of quantitative genetics and molecular genetics in QTL analysis of complex traits. (shrink)

Observing adaptive evolution is difficult. In the fossil record, phenotypic evolution happens much more slowly than in artificial selection experiments or in experimental evolution. Yet measures of selection on phenotypic traits, with high heritabilities, suggest that phenotypic evolution should also be rapid in the wild, and this discrepancy often remains even after accounting for correlations between different traits (i.e. making predictions using the multivariate version of the breeder's equation). Are fitness correlations with quantitative traits adequate measures (...) of selection in the wild? We should instead view fitnesses as average properties of genotypes, while acknowledging that they can be environment‐dependent. Populations will tend to remain at fitness equilibria, once these are attained, and phenotypes will then be stable. Thus, studying the causes of adaptive change at a genotypic rather than phenotypic level may reveal that, typically, it is occurring too slowly to be easily observed. (shrink)

Most characters that distinguish one individual from another, like height or weight, vary continuously in populations. Continuous variation of these ‘quantitative’ traits is due to the simultaneous segregation of multiple quantitative trait loci (QTLs) as well as environmental influences. A major challenge in human medicine, animal and plant breeding and evolutionary genetics is to identify QTLs and determine their genetic properties. Studies of the classic quantitative traits, abdominal and sternopleural bristle numbers of Drosophila, have shown (...) that: (1) many loci have small effects on bristle number, but a few have large effects and cause most of the genetic variation; (2) ‘candidate’ loci involved in bristle development often have large quantitative effects on bristle number; and (3) alleles at QTLs affecting bristle number have variable degrees of dominance, interact with each other, and affect other quantitative traits, including fitness. Lessons learned from this model system will be applicable to studies of the genetic basis of quantitative variation in other species. (shrink)

The Contrast Between the nomothetic versus the idiographic was popularized in psychology by Gordon Allport (1937). In the early 1930s, Allport made his name by advocating for a quantitative, trait-based approach to the study of personality in contrast with the prevailing case study approach. In doing so, he was following the trend toward greater reliance on measurement in psychology as a whole. Allport, however, had grave doubts about the sufficiency of quantitative measurement for developing an understanding of individual (...) psychological functioning. The nomothetic versus the idiographic was meant to give voice to these doubts.1 For Allport, the nomothetic referred to the study of populations with the aim .. (shrink)

The common autoimmune disease type 1 diabetes provides a paradigm for the genetic analysis of multifactorial disease. Disease occurrence is attributable to the interaction with the environment of alleles at many loci interspersed throughout the genome. Their mapping and identification is difficult because the disease-associated alleles occur almost as commonly in patients as in healthy individuals; even the highest-risk genotypes bestow only modest risks of disease. The identification of common quantitative trait loci (QTL) in autoimmune disease and in other (...) common disorders, therefore,requires a very close marriage of genetics and biology. Two QTLs have been identified in human type 1 diabetes: the major histocompatibility complex HLA class II loci and a promoter polymorphism of the insulin gene. The evidence for their primary roles in disease aetiology demonstrates the necessity of combined studies of genetics and biology. Their functions and interaction underpin an emerging picture of the basic causes of the disease and direct analyses towards other candidate genes and pathways. The genetic tools used for QTL identification include transgenesis and gene knockouts, whole genome scanning for linkage, mouse congenic strains, linkage disequilibrium mapping, and the establishment of ancestral haplotypes among disease-associated chromosomes. BioEssays 1999;21:164–174. © 1999 John Wiley & Sons, Inc. (shrink)

It is useful to envision two fundamentally different ways by which the timing of plant development is regulated: developmental stage‐transition mechanisms and time‐to‐flowering mechanisms. The existence of both mechanisms is indicated by the behavior of various mutants. Shoot stage transitions are defined by dominant mutants representing at least four different genes; each mutant retards transitions from juvenile shoot stages to more adult shoot stages. In addition, dominant leaf stage‐transition mutants in at least seven different genes have similar phenotypes, but the (...) leaf rather than the shoot is the. focus (and at least two of these genes encode domain proteins.) One mutant, Hairy sheath frayed 1‐0 (Hsf1‐O) simultaneously affects shoot and leaf; this mutant's behavior initiated our interest in plant heterochronism(1). The second type of timekeeping involves time‐to‐flowering. As with most plant but not animals species, cultivars of the maize species vary greatly for the time‐to‐flowering quantitative trait: between 6 and 14 weeks is common. It is via the 'slipping time frames' interaction that takes place between stage‐transition mutants and time‐to‐flowering genetic back‐grounds that unexpected and radical phenotypes occur. We see a reservoir of previously unsuspected morphological possibilities among the few heterochronic genotypes we have constructed, possibilities that may mimic the sort of variation needed to fuel macroevolution without having to posit (as done by Goldschmidt(2)) any special macromutational mechanisms. (shrink)

Behaving presents an overview of the recent history and methodology of behavioral genetics and psychiatric genetics, informed by a philosophical perspective. Kenneth F. Schaffner addresses a wide range of issues, including genetic reductionism and determinism, "free will," and quantitative and molecular genetics. The latter covers newer genome-wide association studies that have produced a paradigm shift in the subject, and generated the problem of "missing heritability." Schaffner also presents cases involving pro and con arguments for genetic testing for IQ and (...) for Attention Deficit Hyperactivity Disorder. Schaffner examines the nature-nurture controversy and Developmental Systems Theory using C. elegans or "worm" studies as a test case, concluding that genes are special and provide powerful tools, including "deep homology," for investigating behavior. He offers a novel account of biological knowledge emphasizing the importance of models, mechanisms, pathways, and networks, which clarifies how partial reductions provide explanations of traits and disorders. The book also includes examinations of personality genetics and of schizophrenia and its etiology, alongside interviews with prominent researchers in the area, and discusses debates about psychosis that led to changes in the DSM-5 in 2013.Schaffner concludes by discussing additional philosophical implications of the genetic analyses in the book, some major worries about "free will," and arguments pro and con about why genes and DNA are so special. Though genes are special, newer perspectives presented in this book will be needed for progress in behavioral genetics- perspectives that situate genes in complex multilevel prototypic pathways and networks. With a mix of optimism and pessimism about the state of the field and the subject, Schaffner's book will be of interest to scholars in the history and philosophy of science, medicine, and psychiatry. (shrink)

Based on evidence from press articles covering 39 corporate fraud cases that went public during the period 1992-2005, the objective of this article is to examine the role of managers' behavior in the commitment of the fraud. This study integrates the fraud triangle (FT) and the theory of planned behavior (TPB) to gain a better understanding of fraud cases. The results of the analysis suggest that personality traits appear to be a major fraud-risk factor. The analysis was further validated (...) through a quantitative analysis of keywords which confirmed that keywords associated with the attitudes/rationalizations component of the integrated theory were predominately found in fraud firms as opposed to a sample of control firms. The results of the study suggest that auditors should evaluate the ethics of management through the components of the TPB: the assessment of attitude, subjective norms, perceived behavioral control and moral obligation. Therefore, it is potentially important that the professional standards that are related to fraud detection strengthen the emphasis on managers' behavior that may be associated with unethical behavior. (shrink)

The paper describes the context and the origin of a particular debate that concerns the evolution of phenotypic plasticity. In 1965, British biologist A. D. Bradshaw proposed a widely cited model intended to explain the evolution of norms of reaction, based on his studies of plant populations. Bradshaw’s model went beyond the notion of the “adaptive norm of reaction” discussed before him by Dobzhansky and Schmalhausen by suggesting that “plasticity” the ability of a phenotype to be modified by the environment (...) should be genetically determined. To prove Bradshaw’s hypothesis, it became necessary for some authors to identify the pressures exerted by natural selection on phenotypic plasticity in particular traits, and thus to model its evolution. In this paper, I contrast two different views, based on quantitative genetic models, proposed in the mid-1980s: Russell Lande and Sara Via’s conception of phenotypic plasticity, which assumes that the evolution of plasticity is linked to the evolution of the plastic trait itself, and Samuel Scheiner and Richard Lyman’s view, which assumes that the evolution of plasticity is independent from the evolution of the trait. I show how the origin of this specific debate, and different assumptions about the evolution of phenotypic plasticity, depended on Bradshaw’s definition of plasticity and the context of quantitative genetics. (shrink)

Dans notre étude, nous poursuivons les analyses portant sur la classe des adverbes roumains que nous avons menées déjà depuis longtemps, en nous proposant de relever des aspects particuliers ayant trait à cette partie de discours. L’intérêt envers le roumain se justifie par le fait que cet idiome s’est avéré à maintes reprises très conservateur par rapport au latin, à cause de son isolement du continuum roman. Essentiellement, il s’agit de nuancer et de souligner certains aspects méconnus, liés aux ainsi-dénommés (...) adverbes-adjectifs roumains. À l’appui de notre investigation, nous exploitons un corpus formé de textes datant du XVIe siècle (Corpus CAR.XVI) qui sont largement valorisés en grammaire diachronique roumaine et, récemment, en linguistique romane.Le type d’adverbes mentionné ne caractérise pas seulement le roumain car il est aussi attesté sporadiquement dans les autres langues romanes et généralement dans quelques dialectes du complexe linguistique italo-roman.L’interprétation des faits de langue sera faite en prenant en compte plusieurs perspectives, en particulier les perspectives étymologique, quantitative et fonctionnelle, ce qui assure une meilleure compréhension et facilite une analyse appropriée, complexe et quasi-complète, à la fois. (shrink)

L’analyse comparative du Traité des principes de la connaissance humaine (1710) et des Trois dialogues entre Hylas et Philonous (1713), qui se présentent comme les deux phases successives de la première mise en forme doctrinale de l’immatérialisme, permet de formuler l’hypothèse suivante : le dialogisme que ne cesse de susciter le Traité semble spontanément conduire aux Dialogues, comme si Berkeley adoptait enfin la rhétorique adéquate à son projet philosophique. Or l’étude quantitative de la distribution de la parole dans les (...) Dialogues montre au contraire qu’ils n’assument le dialogisme latent qui transparaissait dans le Traité que pour l’annuler : en réalité, le personnage de Philonous détient une écrasante maîtrise de la parole, qui lui permet de disposer de véritables pièces doctrinales, tandis qu’Hylas s’épuise en de multiples objections contradictoires. Le dialogisme n’est donc qu’un outil ponctuel de la réforme rhétorique du propos de Berkeley, destiné à susciter l’interlocuteur pour mieux le dissoudre. (shrink)

Human cooperation is highly unusual. We live in large groups composed mostly of non-relatives. Evolutionists have proposed a number of explanations for this pattern, including cultural group selection and extensions of more general processes such as reciprocity, kin selection, and multi-level selection acting on genes. Evolutionary processes are consilient; they affect several different empirical domains, such as patterns of behavior and the proximal drivers of that behavior. In this target article, we sketch the evidence from five domains that bear on (...) the explanatory adequacy of cultural group selection and competing hypotheses to explain human cooperation. Does cultural transmission constitute an inheritance system that can evolve in a Darwinian fashion? Are the norms that underpin institutions among the cultural traits so transmitted? Do we observe sufficient variation at the level of groups of considerable size for group selection to be a plausible process? Do human groups compete, and do success and failure in competition depend upon cultural variation? Do we observe adaptations for cooperation in humans that most plausibly arose by cultural group selection? If the answer to one of these questions is “no,” then we must look to other hypotheses. We present evidence, including quantitative evidence, that the answer to all of the questions is “yes” and argue that we must take the cultural group selection hypothesis seriously. If culturally transmitted systems of rules that limit individual deviance organize cooperation in human societies, then it is not clear that any extant alternative to cultural group selection can be a complete explanation. (shrink)

Fisher’s 1918 paper accomplished two distinct goals: unifying discrete Mendelian genetics with continuous biometric phenotypes and quantifying the variance components of variation in complex human characteristics. The former contributed to the foundation of modern quantitative genetics; the latter was adopted by social scientists interested in the pursuit of Galtonian nature-nurture questions about the biological and social origins of human behavior, especially human intelligence. This historical divergence has produced competing notions of the estimation of variance ratios referred to as heritability. (...) Jay Lush showed that they could be applied to selective breeding on the farm, while the early twin geneticists used them as a descriptive statistic to describe the degree of genetic determination in complex human traits. Here we trace the early history of the heritability coefficient now used by social scientists. (shrink)