@article {13650, title = {Genome-wide association study
identifies variants in TMPRSS6 associated with hemoglobin
levels.}, journal = {Nature genetics}, volume = {41}, year =
{2009}, month = {2009 Nov}, pages = {1170-2}, 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.}, 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},
issn = {1546-1718}, doi = {10.1042/