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Brief Communication

Nature Genetics 41, 1170–1172 (1 November 2009) | doi:10.1038/ng.462

Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels

John C Chambers , Weihua Zhang , Yun Li , Joban Sehmi , Mark N Wass , Delilah Zabaneh , Clive Hoggart , Henry Bayele , Mark I McCarthy , Leena Peltonen , Nelson B Freimer , Surjit K Srai , Patrick H Maxwell , Michael J E Sternberg , Aimo Ruokonen , Gon|[ccedil]|alo Abecasis , Marjo-Riitta Jarvelin , James Scott , Paul Elliott & Jaspal S Kooner

We carried out a genome-wide association study of hemoglobin levels in 16,001 individuals of European and Indian Asian ancestry. The most closely associated SNP (rs855791) results in nonsynonymous (V736A) change in the serine protease domain of TMPRSS6 and a blood hemoglobin concentration 0.13 (95% CI 0.09–0.17) g/dl lower per copy of allele A (P = 1.6 |[times]| 10|[minus]|13).