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

TitleGenome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels.
Publication TypeJournal Article
Year of Publication2009
AuthorsChambers, JC, Zhang W, Li Y, Sehmi J, Wass MN, Zabaneh D, Hoggart C, Bayele H, McCarthy MI, Peltonen L, Freimer NB, Srai SK, Maxwell PH, Sternberg MJE, Ruokonen A, Abecasis G, Jarvelin M-R, Scott J, Elliott P, Kooner JS
JournalNature genetics
Volume41
Issue11
Pagination1170-2
Date Published2009 Nov
ISSN1546-1718
KeywordsBinding Sites, Biocatalysis, European Continental Ancestry Group, Genome-Wide Association Study, Hemoglobins, Humans, Membrane Proteins, Models, Molecular, Polymorphism, Single Nucleotide, Protein Structure, Tertiary, Serine Endopeptidases
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.

DOI10.1042/AN20110027
Alternate JournalNat. Genet.