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


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2009-11

AUTHORS

John C Chambers, 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

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. More... »

PAGES

1170-1172

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ng.462

DOI

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

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1046803149

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/19820698


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