Department of Neurology, The Second Affiliated Hospital of Hainan Medical University, #48 Baishuitang Road, Xiuying District, Haikou, 570311, Hainan, China.
Department of Breath Internal Medicine, The Second Affiliated Hospital of Hainan Medical University, Haikou, 570311, Hainan, China.
J Mol Neurosci. 2018 Jul;65(3):359-366. doi: 10.1007/s12031-018-1095-1. Epub 2018 Jun 23.
Ischemic stroke (IS) is the main cause of mortality and disability in China; thus, this study aimed to examine the association between six variants and their haplotypes within the transferrin (TF) gene and the risk of IS in the Southern Chinese Han population. Genotyping was performed using the Sequenom MassARRAY platform for 249 IS patients and 249 age- and sex-matched controls. The association between polymorphisms and IS risk was tested by Chi squared test and haplotype and stratification analysis. Odds ratios (ORs) and confidence intervals (CIs) were estimated by unconditional logistic regression analysis. The results of genetic model analyses indicated that the two SNPs (rs1880669 and rs2692695) were associated with decreased IS risk under the co-dominant, dominant, and additive models. Additionally, rs4525863 was also associated with decreased IS risk both under the dominant and additive models in males. Moreover, the CG haplotype of TF (rs1880669 and rs2692695) was significantly associated with a decreased risk of IS in the total population and males. Our findings suggested that polymorphisms (rs4525863, rs1880669, and rs2692695) of the TF gene might be a protective factor for IS in Southern Chinese Han population. Further large prospective studies are required to confirm these findings.
缺血性脑卒中(IS)是中国主要的致死和致残原因;因此,本研究旨在探讨转铁蛋白(TF)基因内的 6 个变异及其单倍型与中国南方汉族人群 IS 发病风险之间的关系。采用Sequenom MassARRAY 平台对 249 例 IS 患者和 249 例年龄和性别匹配的对照进行基因分型。通过卡方检验和单倍型及分层分析检测多态性与 IS 风险的关联。采用非条件 logistic 回归分析估计比值比(OR)和置信区间(CI)。遗传模型分析结果表明,两个 SNP(rs1880669 和 rs2692695)在共显性、显性和加性模型下与 IS 风险降低相关。此外,rs4525863 还在男性的显性和加性模型下与 IS 风险降低相关。此外,TF(rs1880669 和 rs2692695)的 CG 单倍型在总人群和男性中与 IS 风险降低显著相关。我们的研究结果表明,TF 基因的多态性(rs4525863、rs1880669 和 rs2692695)可能是中国南方汉族人群 IS 的保护因素。需要进一步的大样本前瞻性研究来证实这些发现。