Finding missing heritability in less significant Loci and allelic heterogeneity: genetic variation in human height.

ABSTRACT: Genome-wide association studies (GWAS) have identified many common variants associated with complex traits in human populations. Thus far, most reported variants have relatively small effects and explain only a small proportion of phenotypic variance, leading to the issues of 'missing' heritability and its explanation. Using height as an example, we examined two possible sources of missing heritability: first, variants with smaller effects whose associations with height failed to reach genome-wide significance and second, allelic heterogeneity due to the effects of multiple variants at a single locus. Using a novel analytical approach we examined allelic heterogeneity of height-associated loci selected from SNPs of different significance levels based on the summary data of the GIANT (stage

SUBMITTER: Zhang G 

PROVIDER: S-EPMC3521016 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature