Abstract
Understanding human mating patterns, which can affect population genetic structure, is important for correctly modeling populations and performing genetic association studies. Prior studies of assortative mating in humans focused on trait similarity among spouses and relatives via phenotypic correlations. Limited research has quantified the genetic consequences of assortative mating. The degree to which the non-random mating influences genetic architecture remains unclear. Here, we studied genetic variants associated with human height to assess the degree of height-related assortative mating in European-American and African-American populations. We compared the inbreeding coefficient estimated using known height associated variants with that calculated from frequency matched sets of random variants. We observed significantly higher inbreeding coefficients for the height associated variants than from frequency matched random variants (P < 0.05), demonstrating height-related assortative mating in both populations.
Highlights
Human mate choice is relevant to a wide range of scientific disciplines, including biology, sociology, population genetics, evolutionary biology, and psychology[1,2,3,4,5]
A key outcome of assortative mating is that it increases homozygosity of variants associated with traits that affect mate choice and causes an increase in genetic variance in a population and the corresponding trait variance, but does not change the allele frequencies unless the genetic variants are under differential selection[5]
We observed that the estimated inbreeding coefficients for height associated variants were consistently larger than that for frequency matched random markers using either single or multiple locus analyses in both European Americans and African Americans
Summary
Human mate choice is relevant to a wide range of scientific disciplines, including biology, sociology, population genetics, evolutionary biology, and psychology[1,2,3,4,5]. Without accounting for assortative mating in genetic association studies, spurious associations may be observed for loci involved in the assortative mating process, and lead to an inflated false positive rate[27,28]. Genome wide association studies have identified about 700 variants associated with human height in individuals of European-ancestry[34,37]. These variants cumulatively explain approximately one fifth of the phenotypic variation in height and provide the most complete description of the genetic bases of a polygenic effect in humans. We sought to quantify the genetic bases of height-related assortative mating by estimating the inbreeding coefficients of the height associated variants as compared to expectations for non-height associated loci. Results consistent with this hypothesis can provide complementary evidence that these variants are height associated as it has previously been shown that deviations from Hardy Weinberg Equilibrium can provide independent evidence for association[42,43,44,45]
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