2020•bioRxiv (Cold Spring Harbor Laboratory)Open access

Twin studies with unmet assumptions are biased towards genetic heritability

Edwin S. Dalmaijer

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Abstract

Summary For a century [1,2], studies of monozygotic and dizygotic twins have yielded estimates of trait heritability. The clever logic behind them is that while both types of twins share environments, their genetic overlap is different. Hence, larger trait correlations between monozygotic compared to dizygotic twins indicate heritability (nature), whereas similar correlations indicate shared environmental influences (nurture), and low correlations indicate shaping through non-shared environments (external influences and measurement error). While many have written on the assumptions that both types of twins share equal environments [3–5], and that parental genetics and environment are independent [6,7]; fewer have put their data where their mouth is. Here, the impacts of unmet assumptions were investigated using a generative mixture model of twin phenotypes. The results indicated that violations of the equal environments assumption yielded large overestimations of heritability and underestimations of shared environmental influences. On the other hand, when parental genetics shaped twins’ shared environments, only minor non-linear biases against heritability emerged. Finally, realistic levels of measurement error uniformly depressed estimates for genetic and shared environmental factors. In sum, twin studies are particularly susceptible to overestimation of genetic and non-shared environmental influences. This bias could explain why some traits, such as attitudes towards property taxes [8], show suspiciously high heritability without a biologically plausible mechanism. Particularly in the context of traits with convincing mechanisms of cultural transmission [9–11] and complex gene-environment interactions [6], researchers should not allow biases in twin studies to overestimate heritability.

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Summary For a century [1,2], studies of monozygotic and dizygotic twins have yielded estimates of trait heritability. The clever logic behind them is that while both types of twins share environments, their genetic overlap is different. Hence, larger trait correlations between monozygotic compared to dizygotic twins indicate heritability (nature), whereas similar correlations indicate shared environmental influences (nurture), and low correlations indicate shaping through non-shared environments (external influences and measurement error). While many have written on the assumptions that both types of twins share equal environments [3–5], and that parental genetics and environment are independent [6,7]; fewer have put their data where their mouth is. Here, the impacts of unmet assumptions were investigated using a generative mixture model of twin phenotypes. The results indicated that violations of the equal environments assumption yielded large overestimations of heritability and underestimations of shared environmental influences. On the other hand, when parental genetics shaped twins’ shared environments, only minor non-linear biases against heritability emerged. Finally, realistic levels of measurement error uniformly depressed estimates for genetic and shared environmental factors. In sum, twin studies are particularly susceptible to overestimation of genetic and non-shared environmental influences. This bias could explain why some traits, such as attitudes towards property taxes [8], show suspiciously high heritability without a biologically plausible mechanism. Particularly in the context of traits with convincing mechanisms of cultural transmission [9–11] and complex gene-environment interactions [6], researchers should not allow biases in twin studies to overestimate heritability.

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Available abstract

Summary For a century [1,2], studies of monozygotic and dizygotic twins have yielded estimates of trait heritability. The clever logic behind them is that while both types of twins share environments, their genetic overlap is different. Hence, larger trait correlations between monozygotic compared to dizygotic twins indicate heritability (nature), whereas similar correlations indicate shared environmental influences (nurture), and low correlations indicate shaping through non-shared environments (external influences and measurement error). While many have written on the assumptions that both types of twins share equal environments [3–5], and that parental genetics and environment are independent [6,7]; fewer have put their data where their mouth is. Here, the impacts of unmet assumptions were investigated using a generative mixture model of twin phenotypes. The results indicated that violations of the equal environments assumption yielded large overestimations of heritability and underestimations of shared environmental influences. On the other hand, when parental genetics shaped twins’ shared environments, only minor non-linear biases against heritability emerged. Finally, realistic levels of measurement error uniformly depressed estimates for genetic and shared environmental factors. In sum, twin studies are particularly susceptible to overestimation of genetic and non-shared environmental influences. This bias could explain why some traits, such as attitudes towards property taxes [8], show suspiciously high heritability without a biologically plausible mechanism. Particularly in the context of traits with convincing mechanisms of cultural transmission [9–11] and complex gene-environment interactions [6], researchers should not allow biases in twin studies to overestimate heritability.

Key concepts: Heritability, Nature versus nurture, Trait, Twin study, Context (archaeology), Monozygotic twin, Quantitative genetics, Biology

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