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

2009; Nature Portfolio; Volume: 41; Issue: 11 Linguagem: Inglês

10.1038/ng.462

1546-1718

John C. Chambers, Weihua Zhang, Yun Li, Joban Sehmi, Mark N. Wass, Delilah Zabaneh, Clive Hoggart, Henry K. Bayele, Mark I. McCarthy, Leena Peltonen, Nelson B. Freimer, Surjit Kaila Srai, Patrick H. Maxwell, Michael J.E. Sternberg, Aimo Ruokonen, Gonçalo R. Abecasis, Marjo‐Riitta Järvelin, James G. Scott, Paul Elliott, Jaspal S. Kooner,

Folate and B Vitamins Research

John Chambers and colleagues report the association of SNPs in TMPRSS6, which encodes a regulator of hepicidin synthesis, to hemoglobin levels. 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 × 10−13). Our findings suggest that TMPRSS6, a regulator of hepcidin synthesis and iron handling, is crucial in hemoglobin level maintenance.