Height GWAS Loci Comparative Analyses
We next explored the overlap between the 14 genes and 611 genes implicated through genome-wide association studies (GWASs) to be involved in the control of human height.25 There was significant overlap; six genes involved in OGID were also present in height GWAS regions (p = 6.8 × 10−8) (Figure S1). The overlap is primarily through the epigenetic regulation genes, all of which (except EED) were represented in height GWAS regions. Two separate intronic SNPs in each of NSD1 and DNMT3A were independently associated with height in the GWAS and there were no other genes within the linkage disequilibrium (LD) blocks of association. This strongly suggests that NSD1 and DNMT3A functional impact underlie the height association in these regions (Figure S1). Single SNPs in intron 5 of CHD8, intron 9 of MTOR, 1 kb downstream of HIST1H1E, and 48 kb upstream of EZH2 were also associated with height.25 For HIST1H1E and EZH2, there were no other genes in the LD block of association. For MTOR the variant associated with a cis-eQTL affecting MTOR expression, though the association was better accounted for by an upstream variant (rs2295080) in the MTOR promoter region that was in LD with the height SNP (LD r2 = 0.85).25 Although the causal SNPs and mechanisms of association are not fully elucidated, these data suggest that common variation in some genes involved in OGID also influence height at a population level.