Thursday, September 17, 2020

But it is no longer reasonable, contra some predictions, to expect that advances in human genomics will reveal that the heritability of psychological phenotypes is entirely illusory

“Reports of My Death Were Greatly Exaggerated”: Behavior Genetics in the Postgenomic Era. K. Paige Harden. Annual Review of Psychology, Vol. 72, January 2021, online September 8, 2020. https://doi.org/10.1146/annurev-psych-052220-103822

Abstract: Behavior genetics studies how genetic differences among people contribute to differences in their psychology and behavior. Here, I describe how the conclusions and methods of behavior genetics have evolved in the postgenomic era in which the human genome can be directly measured. First, I revisit the first law of behavioral genetics stating that everything is heritable, and I describe results from large-scale meta-analyses of twin data and new methods for estimating heritability using measured DNA. Second, I describe new methods in statistical genetics, including genome-wide association studies and polygenic score analyses. Third, I describe the next generation of work on gene environment interaction, with a particular focus on how genetic influences vary across sociopolitical contexts and exogenous environments. Genomic technology has ushered in a golden age of new tools to address enduring questions about how genes and environments combine to create unique human lives.

Keywords: behavior genetics, twin studies, heritability, gene–environment interaction,
genome-wide association study, polygenic scores

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An early study using a DNA-based method estimated the heritability of height to be ∼80%,and it noted that this result was “consistent with results from independent twin and family studies but using an entirely separate source of information” (Visscher et al. 2006). However, although the results from DNA-based method of estimating heritability scale with the estimates from twin and family studies, the former are typically smaller (Young et al. 2019). This discrepancy between heritability as estimated from classical twin and family studies and heritability as accounted for by measured DNA was labeled the missing heritability problem (Manolio et al. 2009). Recent work has suggested that some of the missing heritability is actually “hiding” in rare variants that are not typically measured and in the heterogeneity of genetic effects across populations (Tropfet al. 2017, Wainschtein et al. 2019, Young 2019). Whether missing or hiding, the continued gap between DNA-based estimates of heritability and estimates from twin/family studies means that the latter might still be overestimating heritability due to faulty assumptions. But it is no longer reasonable, contra some predictions, to expect that advances in human genomics will reveal that the heritability of psychological phenotypes is entirely illusory.

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In contrast to what is seen for educational attainment, most studies find a minimal effect of shared environmental factors on cognitive abilities, particularly when measured in adulthood. It has been suggested,however,that this near-zero main effect of the family-level environment masks the heterogeneity of the effects of the shared environment across the SES spectrum.An early paper by Turkheimer et al. (2003) analyzed data from a sample of twins with an unusual overrepresentation of children in poverty and found substantial effects of the shared environment on cognitive ability at age 7. Subsequent research on the genotype×SES interaction effect yielded mixed results, with several studies finding null effects or even effects in the opposite direction. However, a meta-analysis of this literature (Tucker-Drob & Bates 2016) found evidence of a significant interaction effect (albeit with a smaller effect size than estimated by Turkheimer and colleagues, an example of the winner’s curse), particularly in the United States.

The importance of the shared environment for cognitive ability has also been demonstrated using adoption studies. In particular, population-wide data from Sweden allowed researchers to estimate the impact of the family environment using a unique sample of male-male sibling pairs where one brother was adopted while the other brother was raised by his biological parents (Kendler et al.2015). The IQ score of the adopted brother was, on average, ∼4 points higher, an increase that varied with the education level of the adopting parents.

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