Title : Association of TMPRSS6 polymorphisms with ferritin, hemoglobin, and type 2 diabetes risk in a Chinese Han population.

Pub. Date : 2012 Mar

PMID : 22301935






6 Functional Relationships(s)
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1 BACKGROUND: Transmembrane protease serine 6 (TMPRSS6) regulates iron homeostasis by inhibiting the expression of hepcidin. Iron transmembrane serine protease 6 Homo sapiens
2 BACKGROUND: Transmembrane protease serine 6 (TMPRSS6) regulates iron homeostasis by inhibiting the expression of hepcidin. Iron transmembrane serine protease 6 Homo sapiens
3 Multiple common variants in TMPRSS6 were significantly associated with serum iron in recent genome-wide association studies, but their effects in the Chinese remain to be elucidated. Iron transmembrane serine protease 6 Homo sapiens
4 DESIGN: The SNPs rs855791(V736A) and rs4820268(D521D) in the TMPRSS6 gene were genotyped and tested for their associations with plasma iron and type 2 diabetes risk in 1574 unrelated Chinese Hans from Beijing. Iron transmembrane serine protease 6 Homo sapiens
5 RESULTS: The 2 TMPRSS6 SNPs rs855791(V736A) and rs4820268(D521D) were both significantly associated with plasma ferritin (P <= 0.0058), hemoglobin (P <= 0.0013), iron overload risk (P <= 0.0068), and type 2 diabetes risk (P <= 0.0314). Iron transmembrane serine protease 6 Homo sapiens
6 CONCLUSIONS: These findings suggest that TMPRSS6 variants were significantly associated with plasma ferritin, hemoglobin, risk of iron overload, and type 2 diabetes in Chinese Hans. Iron transmembrane serine protease 6 Homo sapiens