Human behavioural genetics
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Human behaviour genetics is an interdisciplinary subfield of
behaviour genetics 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" c ...
that studies the role of genetic and environmental influences on
human Humans (''Homo sapiens'') are the most abundant and widespread species of primate, characterized by bipedalism and exceptional cognitive skills due to a large and complex brain. This has enabled the development of advanced tools, culture, ...
behaviour Behavior (American English) or behaviour (British English) is the range of actions and mannerisms made by individuals, organisms, systems or artificial entities in some environment. These systems can include other systems or organisms as wel ...
. Classically, human behavioural geneticists have studied the
inheritance Inheritance is the practice of receiving private property, Title (property), titles, debts, entitlements, Privilege (law), privileges, rights, and Law of obligations, obligations upon the death of an individual. The rules of inheritance differ ...
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). The field is interdisciplinary, and draws from
genetics Genetics is the study of genes, genetic variation, and heredity in organisms.Hartl D, Jones E (2005) It is an important branch in biology because heredity is vital to organisms' evolution. Gregor Mendel, a Moravian Augustinian friar wor ...
,
psychology Psychology is the scientific study of mind and behavior. Psychology includes the study of conscious and unconscious phenomena, including feelings and thoughts. It is an academic discipline of immense scope, crossing the boundaries betwe ...
, and statistics. Most recently, the field has moved into the area of
statistical genetics Statistical genetics is a scientific field concerned with the development and application of statistical methods for drawing inferences from genetic data. The term is most commonly used in the context of human genetics. Research in statistical gen ...
, 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. 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 Fragile X syndrome (FXS) is a genetic disorder characterized by mild-to-moderate intellectual disability. The average IQ in males with FXS is under 55, while about two thirds of affected females are intellectually disabled. Physical features may ...
,
Alzheimer's disease Alzheimer's disease (AD) is a neurodegeneration, neurodegenerative disease that usually starts slowly and progressively worsens. It is the cause of 60–70% of cases of dementia. The most common early symptom is difficulty in short-term me ...
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.


History

In 1869,
Francis Galton Sir Francis Galton, FRS FRAI (; 16 February 1822 – 17 January 1911), was an English Victorian era polymath: a statistician, sociologist, psychologist, anthropologist, tropical explorer, geographer, inventor, meteorologist, proto- ...
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 Twins are two offspring produced by the same pregnancy.MedicineNet > Definition of TwinLast Editorial Review: 19 June 2000 Twins can be either ''monozygotic'' ('identical'), meaning that they develop from one zygote, which splits and forms two em ...
and
adoptees Adoption is a process whereby a person assumes the parenting of another, usually a child, from that person's biological or legal parent or parents. Legal adoptions permanently transfer all rights and responsibilities, along with filiation, from ...
. The initial impetus behind this research was to demonstrate that there were indeed genetic influences on
human behaviour Human behavior is the potential and expressed capacity ( mentally, physically, and socially) of human individuals or groups to respond to internal and external stimuli throughout their life. Kagan, Jerome, Marc H. Bornstein, and Richard M. ...
. In
psychology Psychology is the scientific study of mind and behavior. Psychology includes the study of conscious and unconscious phenomena, including feelings and thoughts. It is an academic discipline of immense scope, crossing the boundaries betwe ...
, this phase lasted for the first half of the 20th century largely because of the overwhelming influence of
behaviourism Behaviorism is a systematic approach to understanding the behavior of humans and animals. It assumes that behavior is either a reflex evoked by the pairing of certain antecedent stimuli in the environment, or a consequence of that individual ...
in the field. Later behavioural genetic research focused on
quantitative method Quantitative research is a research strategy that focuses on quantifying the collection and analysis of data. It is formed from a deductive approach where emphasis is placed on the testing of theory, shaped by empiricist and positivist philosop ...
s. 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.


Contemporary behavioural quantitative genetics

Behavioural geneticists study both psychiatric and mental disorders, such as
schizophrenia Schizophrenia is a mental disorder characterized by continuous or relapsing episodes of psychosis. Major symptoms include hallucinations (typically hearing voices), delusions, and disorganized thinking. Other symptoms include social withdra ...
,
bipolar disorder Bipolar disorder, previously known as manic depression, is a mental disorder characterized by periods of depression and periods of abnormally elevated mood that last from days to weeks each. If the elevated mood is severe or associated with ...
, and
alcoholism Alcoholism is, broadly, any drinking of alcohol (drug), alcohol that results in significant Mental health, mental or physical health problems. Because there is disagreement on the definition of the word ''alcoholism'', it is not a recognize ...
, as well as behavioural and social characteristics, such as personality and social attitudes. Recent trends in
behavioural genetics 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" co ...
have indicated an additional focus toward researching the inheritance of human characteristics typically studied in
developmental psychology Developmental psychology is the science, scientific study of how and why humans grow, change, and adapt across the course of their lives. Originally concerned with infants and children, the field has expanded to include adolescence, adult deve ...
. For instance, a major focus in
developmental psychology Developmental psychology is the science, scientific study of how and why humans grow, change, and adapt across the course of their lives. Originally concerned with infants and children, the field has expanded to include adolescence, adult deve ...
has been to characterize the influence of parenting styles on children. However, in most studies, genes are a
confounding In statistics, a confounder (also confounding variable, confounding factor, extraneous determinant or lurking variable) is a variable that influences both the dependent variable and independent variable, causing a spurious association. Con ...
variable. Because children share half of their
alleles An allele (, ; ; modern formation from Greek ἄλλος ''állos'', "other") is a variation of the same sequence of nucleotides at the same place on a long DNA molecule, as described in leading textbooks on genetics and evolution. ::"The chro ...
with each parent, any observed effects of
parenting styles A parenting style is a psychological construct representing standard strategies that parents use in their child rearing. The quality of parenting can be more essential than the quantity of time spent with the child. For instance, the parent may be ...
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 Developmental psychology is the science, scientific study of how and why humans grow, change, and adapt across the course of their lives. Originally concerned with infants and children, the field has expanded to include adolescence, adult deve ...
and the sub-field of
developmental psychopathology Developmental psychopathology is the study of the development of psychological disorders (e.g., psychopathy, autism, schizophrenia and depression) with a life course perspective. Researchers who work from this perspective emphasize how psychopatho ...
as it shifts its focus to the heritability of such factors as emotional
self-control Self-control, an aspect of inhibitory control, is the ability to regulate one's emotions, thoughts, and behavior in the face of temptations and impulses. As an executive function, it is a cognitive process that is necessary for regulating one's b ...
, attachment, social functioning, aggressiveness, etc. Several academic bodies exist to support behaviour genetic research, including the
International Behavioural and Neural Genetics Society The International Behavioural and Neural Genetics Society (IBANGS) is a learned society that was founded in 1996. The goal of IBANGS is "promote and facilitate the growth of research in the field of neural behavioral genetics". Profile Mission Th ...
,
Behavior Genetics Association The Behavior Genetics Association (BGA) is a learned society established in 1970 and which promotes research into the connections between heredity and behavior, both human and animal. Its members support education and training in behavior genetic ...
, the
International Society of Psychiatric Genetics The International Society of Psychiatric Genetics (ISPG) is a learned society that aims to "promote and facilitate research in the Psychiatric genetics, genetics of psychiatric disorders, substance use disorders and allied traits". To this end, amon ...
, and the International Society for Twin Studies. Behaviour genetic work features prominently in several more general societies, for instance the
International Behavioral Neuroscience Society The International Behavioral Neuroscience Society (IBNS), was founded in 1992. The goal of the IBNS is to "encourage research and education in the field of behavioral neuroscience". Its current president is Mikhail Pletnikov. ''Brain Research Bul ...
.


Methods of human behavioural genetics

Human behavioural geneticists use several designs 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 In psychology, trait theory (also called dispositional theory) is an approach to the study of human personality. Trait theorists are primarily interested in the measurement of ''traits'', which can be defined as habitual patterns of behaviour, tho ...
like extraversion and emotionality, and
psychiatric disorders A mental disorder, also referred to as a mental illness or psychiatric disorder, is a behavioral or mental pattern that causes significant distress or impairment of personal functioning. Such features may be persistent, relapsing and remitti ...
such as schizophrenia and bipolar disease.


Traditional methods of behavioural-genetic analysis

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.


Family studies

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 Schizophrenia is a mental disorder characterized by continuous or relapsing episodes of psychosis. Major symptoms include hallucinations (typically hearing voices), delusions, and disorganized thinking. Other symptoms include social withdra ...
in the general population is generally stated as 1%. Siblings of people with schizophrenia, on the other hand, constitute 13% of the population. 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.


Twin and adoption studies

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 Adoption studies are one of the classic research methods of behavioral genetics and are an effective technique for assessing the interconnections of genetic and environmental variables in the elicitation of human qualities such as intelligence (IQ) ...
. 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. 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 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 a ...
contrasts the differences between
identical Two things are identical if they are the same, see Identity (philosophy). Identical may also refer to: * ''Identical'' (Hopkins novel), a 2008 young adult novel by Ellen Hopkins * ''Identical'' (Turow novel), a 2013 legal drama novel by Scott T ...
and
fraternal twins Twins are two offspring produced by the same pregnancy.MedicineNet > Definition of TwinLast Editorial Review: 19 June 2000 Twins can be either ''monozygotic'' ('identical'), meaning that they develop from one zygote, which splits and forms two em ...
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. 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
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, and Australia, and the method is used widely on phenotypes as diverse as
dental caries Tooth decay, also known as cavities or caries, is the breakdown of teeth due to acids produced by bacteria. The cavities may be a number of different colors from yellow to black. Symptoms may include pain and difficulty with eating. Complicatio ...
,
body mass index Body mass index (BMI) is a value derived from the mass (weight) and height of a person. The BMI is defined as the body mass divided by the square of the body height, and is expressed in units of kg/m2, resulting from mass in kilograms and he ...
,
ageing Ageing ( BE) or aging ( AE) is the process of becoming older. The term refers mainly to humans, many other animals, and fungi, whereas for example, bacteria, perennial plants and some simple animals are potentially biologically immortal. In ...
,
substance abuse Substance abuse, also known as drug abuse, is the use of a drug in amounts or by methods which are harmful to the individual or others. It is a form of substance-related disorder. Differing definitions of drug abuse are used in public health, ...
,
sexuality Human sexuality is the way people experience and express themselves sexually. This involves biological, psychological, physical, erotic, emotional, social, or spiritual feelings and behaviors. Because it is a broad term, which has varied ...
, cognitive abilities,
personality Personality is the characteristic sets of behaviors, cognitions, and emotional patterns that are formed from biological and environmental factors, and which change over time. While there is no generally agreed-upon definition of personality, mos ...
,
values In ethics and social sciences, value denotes the degree of importance of something or action, with the aim of determining which actions are best to do or what way is best to live (normative ethics in ethics), or to describe the significance of dif ...
, and a wide range of
psychiatric disorder A mental disorder, also referred to as a mental illness or psychiatric disorder, is a behavioral or mental pattern that causes significant distress or impairment of personal functioning. Such features may be persistent, relapsing and remitt ...
s. This is broad utility is reflected in several thousands of peer-review papers, and several dedicated societies and journals.


Contemporary methods of behavioural-genetic analysis: new approaches

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.


QTL analysis study

Quantitative trait locus A quantitative trait locus (QTL) is a locus (section of DNA) that correlates with variation of a quantitative trait in the phenotype of a population of organisms. QTLs are mapped by identifying which molecular markers (such as SNPs or AFLPs) c ...
(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 Agriculture or farming is the practice of cultivating plants and livestock. Agriculture was the key development in the rise of sedentary human civilization, whereby farming of domesticated species created food surpluses that enabled people to ...
,
biology Biology is the scientific study of life. It is a natural science with a broad scope but has several unifying themes that tie it together as a single, coherent field. For instance, all organisms are made up of cells that process hereditary i ...
, and
medicine Medicine is the science and practice of caring for a patient, managing the diagnosis, prognosis, prevention, treatment, palliation of their injury or disease, and promoting their health. Medicine encompasses a variety of health care pract ...
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.


Biometric model fitting

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.


See also

*
Behavioral epigenetics Behavioral epigenetics is the field of study examining the role of epigenetics in shaping animal (including human) behavior. It seeks to explain how nurture shapes nature, where nature refers to biological heredity and nurture refers to virtually ...
*
Biocultural evolution Dual inheritance theory (DIT), also known as gene–culture coevolution or biocultural evolution, was developed in the 1960s through early 1980s to explain how human behavior is a product of two different and interacting evolutionary processes: ge ...


References


Further reading

* Carey, G. (2003)
Human Genetics for the Social Sciences
'.
Thousand Oaks Thousand Oaks is the second-largest city in Ventura County, California, United States. It is in the northwestern part of Greater Los Angeles, approximately from the city of Los Angeles and from Downtown. It is named after the many oak tree ...
, CA:
Sage Publications SAGE Publishing, formerly SAGE Publications, is an American independent publishing company founded in 1965 in New York by Sara Miller McCune and now based in Newbury Park, California. It publishes more than 1,000 journals, more than 800 books ...
. * DeFries, J. C., McGuffin, P., McClearn, G. E., Plomin, R. (2000) ''Behavioral Genetics'' 4th ED. W H Freeman & Co. * Scott, J.P. and Fuller, J.L. (1965) ''Genetics and the Social Behavior of the Dog''.
University of Chicago Press The University of Chicago Press is the largest and one of the oldest university presses in the United States. It is operated by the University of Chicago and publishes a wide variety of academic titles, including ''The Chicago Manual of Style'', ...
. * Weiner, J. (1999) ''Time, Love, Memory : A Great Biologist and His Quest for the Origins of Behavior''. Knopf * Pinker, S. (2002) ''The Blank Slate: The Modern Denial of Human Nature''. *


External links

* {{cite web , url=https://class.coursera.org/behavioralgenetics-001 , title=Introduction to Human Behavioral Genetics , last=McGue , first=Matt , date=5 May 2014 , website=Coursera , access-date=10 June 2014 Free Massively Open Online Course on human behavior genetics by Matt McGue of the University of Minnesota Behavioural sciences Human genetics Behavioural genetics