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Human behaviour genetics is an interdisciplinary subfield of behaviour genetics that studies the role of genetic and environmental influences on human behaviour. Classically, human behavioural geneticists have studied the inheritance of behavioural traits. The field was originally focused on determining the importance of genetic influences on human behaviour (for e.g., do genes regulate human behavioural attributes). It has evolved to address more complex questions such as: how important are genetic and/or environmental influences on various human behavioural traits; to what extent do the same genetic and/or environmental influences impact the overlap between human behavioural traits; how do genetic and/or environmental influences on behaviour change across development; and what environmental factors moderate the importance of genetic effects on human behaviour (gene-environment interaction). [1] The field is interdisciplinary, and draws from genetics, psychology, and statistics. Most recently, the field has moved into the area of statistical genetics, with many behavioural geneticists also involved in efforts to identify the specific genes involved in human behaviour, and to understand how the effects associated with these genes changes across time, and in conjunction with the environment. [2]
Traditionally, the human behavioural genetics were a psychology and phenotype based studies including intelligence, personality and grasping ability. During the years, the study developed beyond the classical traits of human behaviour and included more genetically associated traits like genetic disorders (such as fragile X syndrome, Alzheimer's disease and obesity). The traditional methods of behavioural-genetic analysis provide a quantitative evaluation of genetic and non-genetic influences on human behaviour. The family, twin and adoption studies marks the huge contribution for laying down the foundation for current molecular genetic studies to study human behaviour. [3]
In 1869, Francis Galton published the first empirical work in human behavioural genetics, Hereditary Genius. Here, Galton intended to demonstrate that "a man's natural abilities are derived by inheritance, under exactly the same limitations as are the form and physical features of the whole organic world." Like most seminal work, he overstated his conclusions. His was a family study on the inheritance of giftedness and talent. Galton was aware that resemblance among familial relatives can be a function of both shared inheritance and shared environments. Contemporary human behavioural quantitative genetics studies special populations such as twins and adoptees.
The initial impetus behind this research was to demonstrate that there were indeed genetic influences on human behaviour. In psychology, this phase lasted for the first half of the 20th century largely because of the overwhelming influence of behaviourism in the field. Later behavioural genetic research focused on quantitative methods.
In 1984, a research program named the Swedish Adoption/Twin Study of Aging (SATSA) was initiated in gerontological genetics. The research was executed on Twins Reared Apart (TRA) and Twins Reared Together (TRT). In this three-year interval study, the testing was carried out in two ways, Mail-Out Questionnaire and In-Person Testing (IPT). The IPT includes functional capacity, physical performance measurements, neurological state, general health, cardiovascular health, and cognitive abilities, all of which are particularly significant in ageing. The IPT had two major components for testing, Biomedical and Cognitive Assessment. The biomedical component was constructed to analyses the general health status like age changes, lungs function and capacity, physical strength. With this, the cognitive component was developed to represent and evaluate domains of crystallized and fluid intelligence and memory.
The data acquired from this study allowed researchers to assess genetic contributions to age changes and continuities throughout the length of the SATSA twins' later lives, which prolonged a decade and a half. [3]
Behavioural geneticists study both psychiatric and mental disorders, such as schizophrenia, bipolar disorder, and alcoholism, as well as behavioural and social characteristics, such as personality and social attitudes.
Recent trends in behavioural genetics have indicated an additional focus toward researching the inheritance of human characteristics typically studied in developmental psychology. For instance, a major focus in developmental psychology has been to characterize the influence of parenting styles on children. However, in most studies, genes are a confounding variable. Because children share half of their alleles with each parent, any observed effects of parenting styles could be effects of having many of the same alleles as a parent (e.g. harsh aggressive parenting styles have been found to correlate with similar aggressive child characteristics: is it the parenting or the genes?). Thus, behaviour genetics research is currently undertaking to distinguish the effects of the family environment from the effects of genes. This branch of behaviour genetics research is becoming more closely associated with mainstream developmental psychology and the sub-field of developmental psychopathology as it shifts its focus to the heritability of such factors as emotional self-control, attachment, social functioning, aggressiveness, etc.
Several academic bodies exist to support behaviour genetic research, including the International Behavioural and Neural Genetics Society, Behavior Genetics Association, the International Society of Psychiatric Genetics, and the International Society for Twin Studies. Behaviour genetic work features prominently in several more general societies, for instance the International Behavioral Neuroscience Society.
Human behavioural geneticists use several designs to try to answer questions about the nature and mechanisms of genetic influences on behaviour. All of these designs are unified by being based around human relationships which disentangle genetic and environmental relatedness.
The cornerstone of behavioural genetics approaches is quantitative genetics theories, which were formulated more than half a century ago by geneticists concerned with the practical challenges of increasing economically relevant characteristics of domestic plants and animals. These methods are used to study a myriad of traits, including intelligence and other cognitive abilities, personality traits like extraversion and emotionality, and psychiatric disorders such as schizophrenia and bipolar disease. [3]
To examine genetic and environmental impacts on complex human behavioural traits, researchers uses three classic methods: family, twin, and adoption studies. Individual variations within the normal range of variation, as well as the genesis of psychopathologies, are investigated using each of these techniques.
Genes and shared (or familial) environmental factors have a role in family resemblance. The majority of familial research on schizophrenia are concerned with relative risk. Despite the fact that the scope of diagnosis varies, the lifetime risk of schizophrenia in the general population is generally stated as 1%. Siblings of people with schizophrenia, on the other hand, constitute 13% of the population[ which? ]. The hazards for second- and third-degree relatives are lower, at 3% and 2%, respectively, as predicted. In a As a result, schizophrenia is certainly a familial trait. [3]
The basic understanding of behavioural genetics requires the separate study of effects of genes and environment influence on human behaviour. Such as, the genetic effects in a trait are discernible if pair of genetically identical (monozygotic twins) are much similar to one another than pair of genetically non-identical (dizygotic twin).
Twin and adoption studies describe the extent to which family resemblance is due to shared genes and the extent to which it is due to shared environments. Behavioral Scientist uses twin studies to examine hereditary and environmental influences on behavioural development.
For instance, some researchers also study adopted twins: the adoption study. The adoption design produces estimates of various genetic and environmental components of variance, similar to the twin design. Furthermore, the adoption design facilitates
(1) the identification of specific environmental influences that are unaffected by heredity (e.g., the effects of life stressors),
(2) the analysis of heredity's role in ostensibly environmental relationships, and
(3) the evaluation of genotype-environment interactions and correlations. [3]
In this case the adoption disentangles the genetic relatedness of the twins (either 50% or 100%) from their family environments. Likewise the classic twin study contrasts the differences between identical and fraternal twins within a family compared to differences observed between families. This core design can be extended: the so-called "extended twin study" which adds additional family members, increasing power and allowing new genetic and environmental relationships to be studied. Excellent examples of this model are the Virginia 20,000 and the QIMR twin studies.
Generally, if the observed behaviour and cognitive traits have a genetic component, then genetically similar relatives resemble to each other as comparative to individuals who share lesser component of genome. I n case of environmental influence, researchers study the two broad classes of effects in behavioural genetics such as shared environmental factors causing them to behave similarly and the other one is nonshared environmental factors causing them to behave different from one another. For example, siblings raised together in same environment will have more evident shared environment influences whereas in relative siblings raised apart from each other will have non-shared environmental influence. The understanding of the effects of genes and the influence of shared and nonshared environment on human behaviour provides a comprehensive data for genetic and environmental relatedness. [3]
Also possible are the "children of twins" design (holding maternal genetic contributions equal across children with paternal genetics and family environments) and the "virtual twins" design - unrelated children adopted into a family who are very close or identical in age to biological children or other adopted children in the family. While the classical twin study has been criticized they continue to be of high utility. There are several dozen major studies ongoing, in countries as diverse as the US, UK, Germany, France, the Netherlands, and Australia, and the method is used widely on phenotypes as diverse as dental caries, body mass index, ageing, substance abuse, sexuality, cognitive abilities, personality, values, and a wide range of psychiatric disorders. This is broad utility is reflected in several thousands of peer-review papers, and several dedicated societies and journals.
The approaches improve the capacity to specify and generalize results on the effects of genetic and environmental factors on characteristics and their evolution across time.
Quantitative trait locus (QTL) analysis is a statistical approach for attempting to explain the genetic basis of variation in complex characteristics by linking two types of data: phenotypic data (trait measurements) and genotypic data (typically molecular markers).
Researchers in disciplines as diverse as agriculture, biology, and medicine use QTL analysis to relate complicated traits to particular chromosomal regions. The purpose of this procedure is to determine the action, interaction, quantity, and type of action. The ability to disentangle the genetic component of complex characteristics has been enabled by QTL studies in model systems.
To research behavioural characteristics such as schizophrenia, bipolar disorder, alcoholism, and autism, large-scale national and international alliances have been constructed. Such partnerships will bring together enormous, consistently gathered samples, improving the likelihood of finding real susceptibility gene connections. [3]
The method is designed in collaboration of quantitative geneticists to enhance the capabilities to delineate between the genetic and environmental components of complex behavioural characteristics. Path analysis and structural equation modelling are two statistical approaches used in this methodology. The approach is used to see if genetic and environmental impacts can be employed in various populations. It would be useful to know how much of the total genetic variance—heritability—is accounted for by a limited selection of potential loci in studies of emotional stability, for example. [3]
Nature versus nurture is a long-standing debate in biology and society about the relative influence on human beings of their genetic inheritance (nature) and the environmental conditions of their development (nurture). The alliterative expression "nature and nurture" in English has been in use since at least the Elizabethan period and goes back to medieval French. The complementary combination of the two concepts is an ancient concept. Nature is what people think of as pre-wiring and is influenced by genetic inheritance and other biological factors. Nurture is generally taken as the influence of external factors after conception e.g. the product of exposure, experience and learning on an individual.
Heritability is a statistic used in the fields of breeding and genetics that estimates the degree of variation in a phenotypic trait in a population that is due to genetic variation between individuals in that population. The concept of heritability can be expressed in the form of the following question: "What is the proportion of the variation in a given trait within a population that is not explained by the environment or random chance?"
Twin studies are studies conducted on identical or fraternal twins. They aim to reveal the importance of environmental and genetic influences for traits, phenotypes, and disorders. Twin research is considered a key tool in behavioral genetics and in related fields, from biology to psychology. Twin studies are part of the broader methodology used in behavior genetics, which uses all data that are genetically informative – siblings studies, adoption studies, pedigree, etc. These studies have been used to track traits ranging from personal behavior to the presentation of severe mental illnesses such as schizophrenia.
Gene–environment interaction is when two different genotypes respond to environmental variation in different ways. A norm of reaction is a graph that shows the relationship between genes and environmental factors when phenotypic differences are continuous. They can help illustrate GxE interactions. When the norm of reaction is not parallel, as shown in the figure below, there is a gene by environment interaction. This indicates that each genotype responds to environmental variation in a different way. Environmental variation can be physical, chemical, biological, behavior patterns or life events.
The heritability of autism is the proportion of differences in expression of autism that can be explained by genetic variation; if the heritability of a condition is high, then the condition is considered to be primarily genetic. Autism has a strong genetic basis. Although the genetics of autism are complex, autism spectrum disorder (ASD) is explained more by multigene effects than by rare mutations with large effects.
Research on the heritability of IQ inquires into the degree of variation in IQ within a population that is due to genetic variation between individuals in that population. There has been significant controversy in the academic community about the heritability of IQ since research on the issue began in the late nineteenth century. Intelligence in the normal range is a polygenic trait, meaning that it is influenced by more than one gene, and in the case of intelligence at least 500 genes. Further, explaining the similarity in IQ of closely related persons requires careful study because environmental factors may be correlated with genetic factors.
Personality development encompasses the dynamic construction and deconstruction of integrative characteristics that distinguish an individual in terms of interpersonal behavioral traits. Personality development is ever-changing and subject to contextual factors and life-altering experiences. Personality development is also dimensional in description and subjective in nature. That is, personality development can be seen as a continuum varying in degrees of intensity and change. It is subjective in nature because its conceptualization is rooted in social norms of expected behavior, self-expression, and personal growth. The dominant viewpoint in personality psychology indicates that personality emerges early and continues to develop across one's lifespan. Adult personality traits are believed to have a basis in infant temperament, meaning that individual differences in disposition and behavior appear early in life, potentially before language of conscious self-representation develop. The Five Factor Model of personality maps onto the dimensions of childhood temperament. This suggests that individual differences in levels of the corresponding personality traits are present from young ages.
David Christian Rowe was an American psychologist known for his work studying genetic and environmental influences on adolescent onset behaviors such as delinquency and smoking. His research into interaction between genetics and environment led to the discovery of the Scarr–Rowe effect.
Peter McGuffin was a Northern Irish psychiatrist and geneticist from Belfast.
In mathematical or statistical modeling a threshold model is any model where a threshold value, or set of threshold values, is used to distinguish ranges of values where the behaviour predicted by the model varies in some important way. A particularly important instance arises in toxicology, where the model for the effect of a drug may be that there is zero effect for a dose below a critical or threshold value, while an effect of some significance exists above that value. Certain types of regression model may include threshold effects.
Gene–environment correlation is said to occur when exposure to environmental conditions depends on an individual's genotype.
Irving Isadore Gottesman was an American professor of psychology who devoted most of his career to the study of the genetics of schizophrenia. He wrote 17 books and more than 290 other publications, mostly on schizophrenia and behavioral genetics, and created the first academic program on behavioral genetics in the United States. He won awards such as the Hofheimer Prize for Research, the highest award from the American Psychiatric Association for psychiatric research. Lastly, Gottesman was a professor in the psychology department at the University of Minnesota, where he received his Ph.D.
Neurogenetics studies the role of genetics in the development and function of the nervous system. It considers neural characteristics as phenotypes, and is mainly based on the observation that the nervous systems of individuals, even of those belonging to the same species, may not be identical. As the name implies, it draws aspects from both the studies of neuroscience and genetics, focusing in particular how the genetic code an organism carries affects its expressed traits. Mutations in this genetic sequence can have a wide range of effects on the quality of life of the individual. Neurological diseases, behavior and personality are all studied in the context of neurogenetics. The field of neurogenetics emerged in the mid to late 20th century with advances closely following advancements made in available technology. Currently, neurogenetics is the center of much research utilizing cutting edge techniques.
In multivariate quantitative genetics, a genetic correlation is the proportion of variance that two traits share due to genetic causes, the correlation between the genetic influences on a trait and the genetic influences on a different trait estimating the degree of pleiotropy or causal overlap. A genetic correlation of 0 implies that the genetic effects on one trait are independent of the other, while a correlation of 1 implies that all of the genetic influences on the two traits are identical. The bivariate genetic correlation can be generalized to inferring genetic latent variable factors across > 2 traits using factor analysis. Genetic correlation models were introduced into behavioral genetics in the 1970s–1980s.
Behavioural genetics, also referred to as behaviour genetics, is a field of scientific research that uses genetic methods to investigate the nature and origins of individual differences in behaviour. While the name "behavioural genetics" connotes a focus on genetic influences, the field broadly investigates the extent to which genetic and environmental factors influence individual differences, and the development of research designs that can remove the confounding of genes and environment. Behavioural genetics was founded as a scientific discipline by Francis Galton in the late 19th century, only to be discredited through association with eugenics movements before and during World War II. In the latter half of the 20th century, the field saw renewed prominence with research on inheritance of behaviour and mental illness in humans, as well as research on genetically informative model organisms through selective breeding and crosses. In the late 20th and early 21st centuries, technological advances in molecular genetics made it possible to measure and modify the genome directly. This led to major advances in model organism research and in human studies, leading to new scientific discoveries.
Psychology encompasses a vast domain, and includes many different approaches to the study of mental processes and behavior. Below are the major areas of inquiry that taken together constitute psychology. A comprehensive list of the sub-fields and areas within psychology can be found at the list of psychology topics and list of psychology disciplines.
Adoption studies typically compare pairs of persons, e.g., adopted child and adoptive mother or adopted child and biological mother, to assess genetic and environmental influences on behavior. These studies are one of the classic research methods of behavioral genetics. The method is used alongside twin studies to identify the roles of genetics and environmental variables that impact intelligence, and behavioral disorders.
Genome-wide complex trait analysis (GCTA) Genome-based restricted maximum likelihood (GREML) is a statistical method for heritability estimation in genetics, which quantifies the total additive contribution of a set of genetic variants to a trait. GCTA is typically applied to common single nucleotide polymorphisms (SNPs) on a genotyping array and thus termed "chip" or "SNP" heritability.
Complex traits are phenotypes that are controlled by two or more genes and do not follow Mendel's Law of Dominance. They may have a range of expression which is typically continuous. Both environmental and genetic factors often impact the variation in expression. Human height is a continuous trait meaning that there is a wide range of heights. There are an estimated 50 genes that affect the height of a human. Environmental factors, like nutrition, also play a role in a human's height. Other examples of complex traits include: crop yield, plant color, and many diseases including diabetes and Parkinson's disease. One major goal of genetic research today is to better understand the molecular mechanisms through which genetic variants act to influence complex traits. Complex traits are also known as polygenic traits and multigenic traits.
Personality traits are patterns of thoughts, feelings and behaviors that reflect the tendency to respond in certain ways under certain circumstances.