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Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels
- Source :
- Nature Genetics; Vol 41, Nature Genetics
- Publication Year :
- 2009
- Publisher :
- Springer Science and Business Media LLC, 2009.
-
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.
- Subjects :
- Genetics
Nonsynonymous substitution
0303 health sciences
TMPRSS6
Genome-wide association study
Iron deficiency
Biology
medicine.disease
Article
03 medical and health sciences
0302 clinical medicine
Hepcidin
030220 oncology & carcinogenesis
medicine
biology.protein
SNP
Hemoglobin
Allele
030304 developmental biology
Subjects
Details
- ISSN :
- 15461718 and 10614036
- Volume :
- 41
- Database :
- OpenAIRE
- Journal :
- Nature Genetics
- Accession number :
- edsair.doi.dedup.....124301c5fe9c871c163f269d9acb910e