Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

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Nat. Genet. 45 (5) 501-512 [2013-05-00; online 2013-04-09]

Approaches exploiting trait distribution extremes may be used to identify loci associated with common traits, but it is unknown whether these loci are generalizable to the broader population. In a genome-wide search for loci associated with the upper versus the lower 5th percentiles of body mass index, height and waist-to-hip ratio, as well as clinical classes of obesity, including up to 263,407 individuals of European ancestry, we identified 4 new loci (IGFBP4, H6PD, RSRC1 and PPP2R2A) influencing height detected in the distribution tails and 7 new loci (HNF4G, RPTOR, GNAT2, MRPS33P4, ADCY9, HS6ST3 and ZZZ3) for clinical classes of obesity. Further, we find a large overlap in genetic structure and the distribution of variants between traits based on extremes and the general population and little etiological heterogeneity between obesity subgroups.

NGI Uppsala (SNP&SEQ Technology Platform)

National Genomics Infrastructure

PubMed 23563607

DOI 10.1038/ng.2606

Crossref 10.1038/ng.2606

pii: ng.2606
pmc: PMC3973018
mid: NIHMS536922