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1170 volume 41 | number 11 | november 2009 Nature GeNetics b r i e f c o m m u n i c at i o n s
 

Summary: 1170 volume 41 | number 11 | november 2009 Nature GeNetics
b r i e f c o m m u n i c at i o n s
Wecarriedoutagenome-wideassociationstudyof
hemoglobinlevelsin16,001individualsofEuropeanand
IndianAsianancestry.ThemostcloselyassociatedSNP
(rs855791)resultsinnonsynonymous(V736A)changeinthe
serineproteasedomainofTMPRSS6andabloodhemoglobin
concentration0.13(95%CI0.090.17)g/dllowerpercopyof
alleleA(P=1.610-13).OurfindingssuggestthatTMPRSS6,
aregulatorofhepcidinsynthesisandironhandling,iscrucial
inhemoglobinlevelmaintenance.
One-quarter of the world's population has anemia, with the highest
burden in India and Southeast Asia1. Although iron deficiency is the
principal cause of low hemoglobin levels worldwide, genetic factors
also make an important contribution. Mutations in the globin genes,
red cell fragility syndromes and defects in iron metabolism cause
severe hereditary anemias2,3. Common variants at the HBB and HBA1
loci have been associated with hemo-
globin levels in a genetically isolated
Sardinian population with high prev-

  

Source: Abecasis, Goncalo - Department of Biostatistics, University of Michigan

 

Collections: Biology and Medicine; Mathematics