Conditions for the validity of SNP-based heritability estimation

James J Lee, Carson C Chow

The heritability of a trait ($h^2$) is the proportion of its population variance caused by genetic differences, and estimates of this parameter are important for interpreting the results of genome-wide association studies (GWAS). In recent years, researchers have adopted a novel method for estimating a lower bound on heritability directly from GWAS data that uses realized genetic similarities between nominally unrelated individuals. The quantity estimated by this method is purported to be the contribution to heritability that could in principle be recovered from association studies employing the given panel of SNPs ($h^2_\textrm{SNP}$). Thus far the validity of this approach has mostly been tested empirically. Here, we provide a mathematical explication and show that the method should remain a robust means of obtaining $h^2_\textrm{SNP}$ under circumstances wider than those under which it has so far been derived.

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