Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels.
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ABSTRACT:
SUBMITTER: Chambers JC
PROVIDER: S-EPMC3178047 | biostudies-literature | 2009 Nov
REPOSITORIES: biostudies-literature
Publications
Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels.
Chambers John C JC Zhang Weihua W Li Yun Y Sehmi Joban J Wass Mark N MN Zabaneh Delilah D Hoggart Clive C Bayele Henry H McCarthy Mark I MI Peltonen Leena L Freimer Nelson B NB Srai Surjit K SK Maxwell Patrick H PH Sternberg Michael J E MJ Ruokonen Aimo A Abecasis Gonçalo G Jarvelin Marjo-Riitta MR Scott James J Elliott Paul P Kooner Jaspal S JS
Nature genetics 20091011 11
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. ...[more]
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