Association of TMPRSS6 polymorphisms with ferritin, hemoglobin, and type 2 diabetes risk in a Chinese Han population
文献类型：期刊论文
| 作者 | Gan, Wei; Guan, Yu; Wu, Qian; An, Peng; Zhu, Jingwen; Lu, Ling; Jing, Li; Yu, Yu; Ruan, Sheng; Xie, Dong（谢东） |
| 刊名 | AMERICAN JOURNAL OF CLINICAL NUTRITION
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| 出版日期 | 2012 |
| 卷号 | 95期号:3页码:626-632 |
| 通讯作者 | Wang, FD (reprint author), Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Nutr Sci, Key Lab Nutr & Metab,Grad Sch, 294 Taiyuan Rd, Shanghai 20031, Peoples R China. |
| 英文摘要 | 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. Am J Clin Nutr 2012;95:626-32. |
| 类目[WOS] | Nutrition & Dietetics |
| 研究领域[WOS] | Nutrition & Dietetics |
| 关键词[WOS] | IRON-DEFICIENCY ANEMIA ; PROTEASE MATRIPTASE-2 TMPRSS6 ; GENOME-WIDE ASSOCIATION ; SERINE-PROTEASE ; SERUM IRON ; TRANSFERRIN SATURATION ; METABOLIC SYNDROME ; COMMON VARIANTS ; MUTATIONS ; HEPCIDIN |
| 收录类别 | SCI |
| 语种 | 英语 |
| WOS记录号 | WOS:000300638700014 |
| 公开日期 | 2015-12-24 |
| 版本 | 出版稿 |
| 源URL | [http://202.127.25.144/handle/331004/206]  |
| 专题 | 中国科学院上海生命科学研究院营养科学研究所_人类营养与疾病研究组 中国科学院上海生命科学研究院营养科学研究所_营养与肿瘤分子生物学研究组 |
| 推荐引用方式 GB/T 7714 | Gan, Wei,Guan, Yu,Wu, Qian,et al. Association of TMPRSS6 polymorphisms with ferritin, hemoglobin, and type 2 diabetes risk in a Chinese Han population[J]. AMERICAN JOURNAL OF CLINICAL NUTRITION,2012,95(3):626-632. |
| APA | Gan, Wei.,Guan, Yu.,Wu, Qian.,An, Peng.,Zhu, Jingwen.,...&Wang, Fudi.(2012).Association of TMPRSS6 polymorphisms with ferritin, hemoglobin, and type 2 diabetes risk in a Chinese Han population.AMERICAN JOURNAL OF CLINICAL NUTRITION,95(3),626-632. |
| MLA | Gan, Wei,et al."Association of TMPRSS6 polymorphisms with ferritin, hemoglobin, and type 2 diabetes risk in a Chinese Han population".AMERICAN JOURNAL OF CLINICAL NUTRITION 95.3(2012):626-632. |
入库方式： OAI收割
来源：上海营养与健康研究所
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