Abstract

The personality traits of neuroticism and extraversion are predictive of a number of social and behavioural outcomes and psychiatric disorders. Twin and family studies have reported moderate heritability estimates for both traits. Few associations have been reported between genetic variants and neuroticism/extraversion, but hardly any have been replicated. Moreover, the ones that have been replicated explain only a small proportion of the heritability (<∼2%). Using genome-wide single-nucleotide polymorphism (SNP) data from ∼12 000 unrelated individuals we estimated the proportion of phenotypic variance explained by variants in linkage disequilibrium with common SNPs as 0.06 (s.e.=0.03) for neuroticism and 0.12 (s.e.=0.03) for extraversion. In an additional series of analyses in a family-based sample, we show that while for both traits ∼45% of the phenotypic variance can be explained by pedigree data (that is, expected genetic similarity) one third of this can be explained by SNP data (that is, realized genetic similarity). A part of the so-called ‘missing heritability' has now been accounted for, but some of the reported heritability is still unexplained. Possible explanations for the remaining missing heritability are that: (i) rare variants that are not captured by common SNPs on current genotype platforms make a major contribution; and/ or (ii) the estimates of narrow sense heritability from twin and family studies are biased upwards, for example, by not properly accounting for nonadditive genetic factors and/or (common) environmental factors.

Highlights

  • The personality traits of neuroticism and extraversion are two higher-order dimensions of personality that are consistently identified in different dimensional models of personality such as the Five Factor Model of personality

  • The proportion of the phenotypic variance explained by all the SNPs (h2SNP) estimated using all ‘unrelated’ individuals was 0.06 (s.e. 1⁄4 0.03, Po0.05) for neuroticism, and 0.12 (s.e. 1⁄4 0.03, Po0.001) for extraversion (See Figure 1 and Supplementary Information Table S2)

  • Study-cohort separate analyses based on only the 162 056 SNPs that were in common between all study cohorts showed a similar pattern as the analyses based on all the SNPs, suggesting that different estimates between study were included as fixed effects in the model, except for the *** marked; error bars represent s.e.; PC; SNPs; UK and USA.**analyses based on 162 056 SNPs that were in common between all study cohorts; adjusted: estimate adjusted for imprecise linkage disequilibrium (LD) between genotyped SNPs and causal variants for causal variants within the allelic frequency spectrum as genotyped SNPs, using the genetic similarity matrix, N is the the regression coefficient b from equation: number of SNPs used to calculate Ajk

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Summary

Introduction

The personality traits of neuroticism and extraversion are two higher-order dimensions of personality that are consistently identified in different dimensional models of personality such as the Five Factor Model of personality Both personality traits are captured in a range of personality inventories Extraversion is characterized by a tendency for high levels of sociability, activity, sensation seeking and positive emotions Both traits are predictive of a number of social and behavioural outcomes and of anxiety and depressive disorders.[5,6,7,8,9] For example, high levels of neuroticism are associated with lifetime disorders such as major depressive disorder, generalised anxiety disorder, social phobia, dysthymia and obsessive-compulsive disorder. Causes of individual differences in both neuroticism and extraversion have been studied extensively using twin and adoption studies, showing heritability estimates ranging from 13 to 58% for neuroticism and from 34 to 57% for extraversion.[10,11,12,13,14,15,16,17,18] Genetic factors that are related to neuroticism and extraversion may be genetic risk factors for associated mental disorders.[7,19,20]

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