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Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/74201

Type: Journal article
Title: Association of TMPRSS6 polymorphisms with ferritin, hemoglobin, and type 2 diabetes risk in a Chinese Han population
Author: Gan, Wei
Guan, Yu
Wu, Qian
An, Peng
Zhu, Jingwen
Lu, Ling
Jing, Li
Yu, Yu
Ruan, Sheng
Xie, Dong
Makrides, Maria
Gibson, Robert Alan
Anderson, Gregory J.
Li, Huaixing
Lin, Xu
Wang, Fudi
Citation: American Journal of Clinical Nutrition, 2012; 95(3):626-632
Publisher: American Society for Nutrition
Issue Date: 2012
ISSN: 0002-9165
School/Discipline: School of Agriculture, Food and Wine
Statement of
Responsibility: 
Wei Gan, Yu Guan, Qian Wu, Peng An, Jingwen Zhu, Ling Lu, Li Jing, Yu Yu, Sheng Ruan, Dong Xie, Maria Makrides, Robert A. Gibson, Gregory J. Anderson, Huaixing Li, Xu Lin and Fudi Wang
Abstract: BACKGROUND: Transmembrane protease serine 6 (TMPRSS6) regulates iron homeostasis by inhibiting the expression of hepcidin. 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. OBJECTIVE: The objective was to determine whether the TMPRSS6 single nucleotide polymorphisms (SNPs) rs855791(V736A) and rs4820268(D521D) were associated with blood hemoglobin and plasma ferritin concentrations and risk of type 2 diabetes in Chinese individuals. 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. 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). None of the associations with hemoglobin or plasma ferritin remained significant (P ≥ 0.1229) when the 2 variants were both included in one linear regression model. A haplotype carrying both iron-lowering alleles from the 2 TMPRSS SNPs showed significant associations with lower hemoglobin (P = 0.0014), lower plasma ferritin (P = 0.0027), and a reduced risk of iron overload (P = 0.0017) and of type 2 diabetes (P = 0.0277). 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. The type 2 diabetes risk conferred by the TMPRSS6 SNPs is possibly mediated by plasma ferritin.
Rights: © 2012 American Society for Nutrition
RMID: 0020116815
DOI: 10.3945/ajcn.111.025684
Appears in Collections:Agriculture, Food and Wine Publications
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