Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2009 Nov;41(11):1170-2.
doi: 10.1038/ng.462. Epub 2009 Oct 11.

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

John C Chambers  1 , Weihua Zhang, Yun Li, Joban Sehmi, Mark N Wass, Delilah Zabaneh, Clive Hoggart, Henry Bayele, Mark I McCarthy, Leena Peltonen, Nelson B Freimer, Surjit K Srai, Patrick H Maxwell, Michael J E Sternberg, Aimo Ruokonen, Gonçalo Abecasis, Marjo-Riitta Jarvelin, James Scott, Paul Elliott, Jaspal S Kooner
Affiliations

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

John C Chambers et al. Nat Genet. 2009 Nov.

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.

PubMed Disclaimer

Figures

Figure 1
Figure 1
Molecular model of the serine protease domain of TMPRSS6 showing binding site residues (orange), catalytic residues (magenta) and the location of the V736A amino acid substitution caused by SNP rs855791 (red).
See this image and copyright information in PMC

Comment in

References

    1. de Benoist B, McLean E, Egli I, Cogswell M, editors. Worldwide prevalence of anaemia 1993–2005: WHO global database on anaemia. Geneva: World Health Organization; 2008.
    1. Weatherall DJ, Provan AB. Lancet. 2000;355:1169–1175. - PubMed
    1. Finberg KE, et al. Nat. Genet. 2008;40:569–571. - PMC - PubMed
    1. Uda M, et al. Proc. Natl. Acad. Sci. USA. 2008;105:1620–1625. - PMC - PubMed
    1. Huang L, et al. Am. J. Hum. Genet. 2009;84:235–250. - PMC - PubMed

Publication types