Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels.
Journal: Nature Genetics
Published:
Abstract
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 x 10(-13)). Our findings suggest that TMPRSS6, a regulator of hepcidin synthesis and iron handling, is crucial in hemoglobin level maintenance.
Authors
John Chambers, Weihua Zhang, Yun Li, Joban Sehmi, Mark Wass, Delilah Zabaneh, Clive Hoggart, Henry Bayele, Mark Mccarthy, Leena Peltonen, Nelson Freimer, Surjit Srai, Patrick Maxwell, Michael J Sternberg, Aimo Ruokonen, Gonçalo Abecasis, Marjo-riitta Jarvelin, James Scott, Paul Elliott, Jaspal Kooner