Genetic epidemiology 1: behavioural genetics
Authors: Rijsdijk Frühling , Sham Pak 
Published: May 2013

Behavioural genetics is the study of the genetic basis of behavioural traits including both psychiatric disorders and ‘normal’ personality dimensions. Behavioural genetics derives its theoretical basis from population genetics. Soon after the laws of Mendelian inheritance were re-discovered in 1900, the implications of these laws on the genetic properties of populations were worked out. Such properties include segregation ratios, genotypic frequencies in random mating populations, the effect of population structure and systems of mating, the impact of selection, the partitioning of genetic variance, and the genetic correlation between relatives. Some appreciation of population genetics is necessary for a deep understanding of behavioural genetics.

Because of the complexity of behavioural traits, genetic factors cannot be regarded in isolation, or as static. Instead, it is important to consider: (i) the relative contributions of genetic and environmental factors, (ii) the interplay between genetic and environmental factors, and (iii) the changing role of genetic factors in different stages of development from infancy to old age. The major study designs in behavioural genetics will be discussed in this chapter, namely family studies, twin studies, and adoption studies. Behavioural genetics, augmented by molecular genetics has the potential to identify specific genetic variants which influence behaviour. This will be considered in detail in Chapter 14.

Mendelian inheritance

Gregor Mendel first demonstrated the genetic basis of biological inheritance by studies of simple all-or-none traits in the garden pea. These traits were particularly revealing because they were completely determined by the genotype at a single chromosomal locus. Diseases caused by genetic mutation at a single locus are commonly called Mendelian or single-gene disorders.

A dominant disorder is expressed when an individual has one or two copies of the mutant allele, whereas a recessive disorder is expressed only when both alleles at the locus are the mutant variant. Examples of Mendelian disorders of clinical significance in psychiatry are Huntington's disease and fragile X syndrome. Mendelian disorders tend to be relatively rare because they are usually subjected to severe negative selective pressure, due to their increased mortality. Most common disorders and continuous traits of interest in psychiatry have an aetiology involving multiple genetic and environmental factors.

Categorical and dimensional traits

Behavioural genetics is rooted in both psychiatry and psychology. Psychiatrists traditionally adopt a medical model where diseases are defined as categorical entities and diagnoses are either present or absent. Psychologists on the other hand prefer quantitative measures of cognitive ability, personality and other traits. The methodology of behavioural genetics research reflects this duality, although there is a trend to integrate the two approaches, especially for traits such as anxiety and depression where both diagnostic criteria and quantitative measures exist.