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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.

Original publication

DOI

10.1038/ng.462

Type

Journal article

Journal

Nat Genet

Publication Date

11/2009

Volume

41

Pages

1170 - 1172

Keywords

Binding Sites, Biocatalysis, European Continental Ancestry Group, Genome-Wide Association Study, Hemoglobins, Humans, Membrane Proteins, Models, Molecular, Polymorphism, Single Nucleotide, Protein Structure, Tertiary, Serine Endopeptidases