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

Chambers, John C and Zhang, Weihua and Li, Yun and Sehmi, Joban S. and Wass, Mark N. and Zabaneh, Delilah and Hoggart, Clive and Bayele, Henry and McCarthy, Mark I and Peltonen, Leena and Freimer, Nelson B and Srai, Surjit K and Maxwell, Patrick H and Sternberg, Michael J.E. and Ruokonen, Aimo and Abecasis, Goncalo R and Jarvelin, Marjo-Riitta and Scott, James and Elliott, Paul and Kooner, Jaspal S (2009) Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels. Nature Genetics, 41 (11). pp. 1170-1172. ISSN 1061-4036. (doi:https://doi.org/10.1038/ng.462) (The full text of this publication is not currently available from this repository. You may be able to access a copy if URLs are provided)

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http://dx.doi.org/10.1038/ng.462

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.

Item Type: Article
Subjects: Q Science > QP Physiology (Living systems) > QP517 Biochemistry
R Medicine > RZ Other systems of medicine
Divisions: Faculties > Sciences > School of Biosciences
Depositing User: Mark Wass
Date Deposited: 06 Jun 2013 13:19 UTC
Last Modified: 06 Jun 2017 11:11 UTC
Resource URI: https://kar.kent.ac.uk/id/eprint/34184 (The current URI for this page, for reference purposes)
Wass, Mark N.: https://orcid.org/0000-0001-5428-6479
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