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

doi:10.1038/ng.462

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Article

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

Nature genetics - 1 Nov 2009

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

Abstract excerpt

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...

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PMID: 19820698
DOI: 10.1038/ng.462
PMCID: PMC3178047

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TMPRSS6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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