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Assignment for Human Genetics


Genetic Influence on Human Psychological Traits

Submitted By Vignesh KK 1140910061

How it all started? Sir Francis Galton, a nineteenth-century intellectual, is recognized as one of the first behavioural geneticists. Galton, a cousin of Charles Darwin, studied the heritability of human ability, focusing on mental characteristics as well as eminence among close relatives in the English upper-class. In 1869, Galton published his results in Hereditary Genius In his work, Galton "introduced multivariate analysis and paved the way towards modern Bayesian statistics" that are used throughout the sciences
Lee Ehrman, a doctoral student of Dobzhansky, wrote seminal papers describing the relationship between genotype frequency and mating success in Drosophila, lending impetus to the pursuit of genetic studies of behaviour in other animals. Studies on hygienic behavior in honey bees were also carried out early in the history of the field. The social behaviour of honey bees was also used as a model to be able to focus on the gene involved in the foraging behaviour of Drosophila; this essentially allowed for deriving a relationship between gene expression and behaviour, where the gene regulating foraging behaviour in Drosophila also regulated social behaviour in bees.

What is Behavioural Genetics? Behavioural genetics is the field of study that examines the role of genetics in animal (including humans) behaviour. Behavioural genetics is highly interdisciplinary, involving contributions from biology, genetics, ethology, psychology, and statistics. Behavioural geneticists study the inheritance of behavioural traits. In humans, this information is often gathered through the use of the twin study or adoption study. In animal studies, breeding, transgenesis, and gene knockout techniques are common; psychiatric genetics is a closely related field. How to measure the genetic component of behavior?

Control environmental variation Similarities between relatives & non-relatives Selection experiments Modern techniques. Heritability (H2): the proportion of variance in a trait attributable to genetic variation. Phenotype, Genotype, Environment P = G + E + (G x E)

H2 = V G / VP

1. Control Environmental Variation: By raising genetically variable individuals in the same environment, we can estimate amount of phenotypic variation that is genetic (VG).Do the same in very different environments to estimate total phenotypic variance (VP). 2. Similarities between relatives and non-relatives: Parent-offspring comparisons, Twins, full-sibs, and half-sib comparisons. But dont forget about influence of similar environment!! Identical twins reared apart opposite of controlled environment studies. 3. Selection Experiment: In a behaviorally variable population, only allow certain individuals to reproduce. If the differential reproduction results in a change in the behaviors in the population, then there MUST be genetic variation associated with the behavioral variation! The speed of the change gives an indication of how much of the behavioral difference was due to genetic differences.
4. Modern methods for finding genes that influence behaviour:


Induced-mutation experiments: Mutate individuals, look for variation in behavior and then figure out which gene was mutated to cause change Knock-out experiments: Inactivate a specific gene and then look for any changes in behavior. QTL mapping:
Using many markers (quantitative trait loci) throughout genome to identify chromosome region(s) that correlate with behavior.




Gene expression (microarrays): Quantify variation in gene expression among individuals performing different behaviors. Factors involved in inheriting behaviour. Additivity or dominance: The effect of one allele on another allele at the same genetic locus. Epistasis: The effect of one genetic locus on another independent locus. Pleiotropy: The effect of a single gene or two or more phenotypic traits. Polygenic: The effect of two or more genes on a single phenotypic trait. Phenotypic plasticity: The interaction between genetic factors and the environment (e.g., norm of reaction).

Genomic Imprinting plays a role Effects (gene products) of a gene differ depending on whether inherited from mother or father. What fitness benefit is gained by changing gene function depending on the parent its inherited from? Hypothesis: Benefits stems from conflict between the parents over investment in the offspring. Mothers may reduce investment in current offspring to invest in future offspring, while father only cares about current offspring, because mothers future offspring may not be his.. Proximate studies: Genetic variation for behavioral variation is maintained. Ultimate studies: Why is genetic variation maintained if selection usually acts to decrease variation!? One of the biggest unanswered questions - what maintains genetic variation in traits under strong selection. Are there genes for behaviors? anxiety and aggression gene? Researchers found a gene that is essential for normal levels of anxiety and aggression. Calling it the Pet-1 gene, researchers at the Case Western Reserve University School of Medicine Department of Neurosciences say that when this gene is removed or "knocked out" in a mouse, aggression and anxiety in adults are greatly elevated compared to a control (also called wild type) mouse . Alcoholism gene? Gene Linked To Alcoholism? Alcoholism tends to run in families, suggesting that addiction, at least in part, has an underlying genetic cause. Now, researchers at the University of Illinois at Chicago have discovered a gene linked to alcohol dependency. Laboratory mice deficient in the gene were found to consume excessive amounts of alcohol, preferring ethanol to water and evincing highly anxious behavior in a maze test. Genetic Influence on Human Psychological Traits There is now a large body of evidence that supports the conclusion that individual differences in most, if not all, reliably measured psychological traits, normal and abnormal, are substantively inuenced by genetic factors. This fact has important implications for research and theory building in psychology, as evidence of genetic inuence unleashes a cascade of questions regarding the sources of variance in such traits. A brief list of those questions is provided, and representative ndings regarding genetic and environmental inuences are presented for the domains of personality, intelligence, psychological interests, psychiatric illnesses, and social attitudes. These ndings are consistent with those reported for the traits of other species and for many human physical traits, suggesting that they may represent a general biological phenomenon. WHY STUDY GENETIC INFLUENCES ON HUMAN BEHAVIORAL TRAITS? A simple answer to the question of why scientists study genetic in-uences on human behavior is that they want a better understanding of how things work, that is, better theories.

ESTIMATES OF THE MAGNITUDE OF GENETIC INFLUENCE ON PSYCHOLOGICAL TRAITS: Table Below reports typical behavior genetic ndings drawn from studies of broad and relatively representative samples from afuent Western societies. In most, but not all, of these studies, estimates of genetic and environmental inuences were obtained from studies of twins. Because the studies probably undersampled people who live in the most deprived segment of Western societies, the ndings should not be considered as generalizable to such populations. Personality Psychologists have developed two major schemes for organizing specific personality traits into a higherorder structure, the Big Five and the Big Three. As Table shows, the ndings using the two schemes are much the same. Genetic inuence is in the range of 40 to 50%, and heritability is approximately the same for different traits. There is evidence of nonadditive genetic variance. That is, genes for personality, in addition to simply adding or subtracting from the expression of a trait, work in a more complex manner, the expression of a relevant gene depending to some extent on the gene with which it is paired on a chromosome or on genes located on other chromosomes. Research has yielded little evidence for significant shared environmental inuence, that is, similarity due to having trait-relevant environmental inuences in common. Some large studies have investigated whether the genes that inuence personality traits differ in the two sexes (sex limitation). The answer is no. However, sometimes there are sex differences in heritability. Mental Ability Early in life, shared environmental factors are the dominant inuence on IQ, but gradually genetic inuence increases, with the effects of shared environment dropping to near zero (see the twin studies inTable). Although not reported here, adoption studies of (a) unrelated individuals reared together and (b) adoptive parents and their adopted offspring have reported similar resultsincreasing genetic inuence on IQ with age and decreasing shared environmental inuence. Results from two twin studies of IQ in old age (over 75) are reported in Table. Both studies found a substantial level of genetic inuence and little shared environmental inuence. The results do, however, suggest some decline in heritability when compared with results for earlier ages. There is no evidence for sex differences in heritability for IQ at any age. Psychological Interests Heritabilities for psychological interests, also called vocational or occupational interests, are also reported in Table. These heritabilities were estimated using data gathered in a single large study that made use of a variety of samples (twins, siblings, parents and their children, etc.) gathered over many years. All respondents completed one form or another of a standard vocational interest questionnaire. There is little variation in heritability for the six scales, with an average of .36. As with personality traits, there is evidence for nonadditive genetic inuence. Unlike personality, psychological interests show evidence for shared environmental inuence, although this in- uence is modest, about 10% for each trait. Psychiatric Illnesses Schizophrenia is the most extensively studied psychiatric illness, and the ndings consistently suggest a very high degree of genetic inuence (heritability of about .80), mostly additive genetic inuence, with no shared environmental inuence. There do not appear to be gender differences in the heritability of schizophrenia. Major depression is less heritable (about .40) than schizophrenia. Men and women share most, but not all, genetic inuences for depression. Panic disorder, generalized anxiety disorder, and

phobias are moderately heritable, and the effect is largely additive, with few if any sex differences. The heritability of alcoholism is in the range of .50 to .60, mostly because of additive genetic effects. Findings regarding the possibility of sex differences in the heritability of alcoholism are mixed. Antisocial behavior has long been thought to be more heritable in adulthood than childhood. The results of a recent analysis do not support that conclusion. The genetic inuence is additive and in the range of .41 to .46. Shared environmental inuences decrease from childhood to adulthood, but do not entirely disappear in adulthood. There are no sex differences in heritability. Social Attitudes Twin studies reveal only environmental inuence on conservatism up to age 19; only after this age do genetic inuences manifest themselves. A large study (30,000 adults, including twins and most of their rst-degree relatives) yielded heritabilities of .65 for males and .45 for females. Some of the genetic inuence on conservatism is nonadditive. Recent work with twins reared apart has independently replicated these heritability ndings. Conservatism correlates highly, about .72, with right-wing authoritarianism, and that trait is also moderately heritable. Religiousness is only slightly heritable in 16year-olds (.11 for girls and .22 for boys in a large Finnish twin study) and strongly inuenced by shared environment (.60 in girls and .45 in boys). Religiousness is moderately heritable in adults (.30 to .45) and also shows some shared environmental inuence. Good data on sex differences in heritability of religiousness in adults are not available. Membership in a specific religious denomination is largely due to environmental factors. Conclusion: One unspoken assumption among early behavior geneticists, an assumption that was shared by most for many years, was that some psychological traits were likely to be significantly inuenced by genetic factors, whereas others were likely to be primarily inuenced by shared environmental inuences. Most behavior geneticists assumed that social attitudes, for example, were inuenced entirely by shared environmental inuences, and so social attitudes remained largely unstudied until relatively recently. The evidence now shows how wrong these assumptions were. Nearly every reliably measured psychological phenotype (normal and abnormal) is significantly inuenced by genetic factors. Heritabilities also differ far less from trait to trait than anyone initially imagined. Shared environmental inuences are often, but not always, of less importance than genetic factors, and often decrease to near zero after adolescence. Genetic inuence on psychological traits is ubiquitous, and psychological researchers must incorporate this fact into their research programs else their theories will be scientifically unimpressive and technologically worthless, to quote Meehl again. At a fundamental level, a scientifically impressive theory must describe the specific molecular mechanism that explicates how genes transact with the environment to produce behavior. The rudiments of such theories are in place. Circadian behavior in humans is under genetic, and some of the molecular mechanisms in mammals are now being revealed). Ridley (2003) and Marcus (2004) have provided additional examples of molecular mechanisms that help shape behavior. For example, many behavioral traits are in- uenced by nonadditive genetic processes. These processes remain a puzzle for geneticists and evolutionists, as well as psychologists, because simple additive effects are thought to be the norm We also do not understand why most psychological traits are moderately heritable, rather than, as some psychologists expected, variable in heritability, with some traits being highly heritable and others being largely under the inuence of the environment. It seems reasonable to suspect that moderate heritability may be a general biological phenomenon rather than one specific to human psychological traits, as the prole of genetic and environmental in-uences on psychological traits is not that different from the prole of these inuences on similarly complex physical traits and similar ndings apply to most organisms.