UCL logo

UCL Discovery

UCL home » Library Services » Electronic resources » UCL Discovery

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

Chambers, JC; Zhang, WH; Li, Y; Sehmi, J; Wass, MN; Zabaneh, D; Hoggart, C; ... Kooner, JS; + view all (2009) Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels. NAT GENET , 41 (11) 1170 - 1172. 10.1038/ng.462.

Full text not available from this repository.

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.

Type: Article
Title: Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels
DOI: 10.1038/ng.462
Keywords: SERINE-PROTEASE MATRIPTASE-2, IRON-DEFICIENCY, EXPRESSION
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > Div of Biosciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > Div of Biosciences > Structural and Molecular Biology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine
URI: http://discovery.ucl.ac.uk/id/eprint/153364
Downloads since deposit
0Downloads
Download activity - last month
Download activity - last 12 months
Downloads by country - last 12 months

Archive Staff Only

View Item View Item