Journal
NATURE GENETICS
Volume 41, Issue 11, Pages 1170-1172Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.462
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Funding
- British Heart Foundation [SP/04/002]
- Wellcome Trust
- Academy of Finland [104781, 120315]
- University Hospital Oulu, Biocenter, University of Oulu, Finland
- National Heart, Lung, and Blood Institute (US) [5R01HL087679-02, 1RL1MH083268-01]
- ENGAGE
- Medical Research Council (UK) [G0500539, G0600705]
- Wellcome Trust (UK) [GR069224]
- Research Council UK
- Academy of Finland and Biocentrum Helsinki
- [HEALTH-F4-2007-201413]
- Biotechnology and Biological Sciences Research Council [BB/F020481/1] Funding Source: researchfish
- Medical Research Council [G0801056B, G0601966, G0801056, G0600705, G0700931] Funding Source: researchfish
- National Institute for Health Research [NF-SI-0507-10315] Funding Source: researchfish
- BBSRC [BB/F020481/1] Funding Source: UKRI
- MRC [G0700931, G0801056, G0601966, G0600705] Funding Source: UKRI
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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.
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