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

Oleh:

Wei, Gan ; Guan, Yu ; Wu, Qian ; Peng, An ; Zhu, Jingwen

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: The American Journal of Clinical Nutrition vol. 95 no. 03 (Mar. 2012), page 626-632.
Topik: VITAMINS; Minerals; Phytochemicals; Diabetes Risk; Alleles; Iron; Diabetes Mellitus Type 2; Polymorphism; Hemoglobin; Genes; Haplotypes; Iron Overload; Plasma; Single Nucleotide Polymorphism; Ferritin; Iron Homeostasis; Hepcidin; Linear Regression Beijing
Fulltext: A07 v95 n3 p626 kelik2022.pdf (183.87KB)

Ketersediaan

Perpustakaan FK Nomor Panggil: A07.K.2012.01 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

Lihat Detail Induk

Isi artikel

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.

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