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Association of connexin 37 gene polymorphisms with risk of coronary artery disease in northern Han Chinese.

机译:连接蛋白37基因多态性与北方汉族人群冠心病风险的关系。

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BACKGROUND: Recently, the C1019T polymorphism in the human gene encoding connexin 37 (CX37, encoded by GJA4) has been reported to be associated with coronary artery disease (CAD)/myocardial infarction in different racial groups, but no data are currently available in northern Han Chinese. The aim of our study is to investigate the association between 3 GJA4 gene polymorphisms (-1930C/T, C1019T and I1297D) and the susceptibility to CAD in northern Han Chinese. METHODS: 502 CAD patients and 410 controls confirmed by coronary angiography were genotyped by polymerase chain reaction restriction fragment length polymorphism analysis in an independent case-control study. RESULTS: The overall distribution of GJA4 C1019T genotypes among CAD patients and healthy controls was significantly different (p < 0.01). Frequencies of C1019T CC homozygote and C allele were significantly higher in the patient group than those in the control group. Stratification analysis showed that the C1019T C allele significantly increased the risk of CAD only among male subjects (p = 0.006; OR 1.38; 95% CI 1.09-1.74). After adjustment for conventional risk factors, binary logistic regression analysis showed that the C allele carrier (CC + CT) of C1019T was an independent risk factor for CAD (p < 0.05). Further linkage disequilibrium tests and haplotype analysis revealed that the C-C-D haplotype conferred an increased risk of CAD. CONCLUSIONS: Our study suggests that GJA4 gene C1019T polymorphism and/or its related C-C-D haplotype might contribute to an increased risk of CAD and potentially play an important role in the development of coronary atherosclerosis in northern Han Chinese.
机译:背景:最近,已报道人类连接蛋白37(CX37,由GJA4编码)基因中的C1019T多态性与不同种族人群的冠状动脉疾病(CAD)/心肌梗塞有关,但目前尚无北部地区的数据汉人。我们的研究目的是研究3个GJA4基因多态性(-1930C / T,C1019T和I1297D)与北方汉族人对CAD的敏感性之间的关系。方法:在一项独立的病例对照研究中,通过聚合酶链反应限制片段长度多态性分析对502例经冠状动脉造影证实的CAD患者和410例对照进行了基因分型。结果:GJA4 C1019T基因型在CAD患者和健康对照组中的总体分布存在显着差异(p <0.01)。患者组中C1019T CC纯合子和C等位基因的频率显着高于对照组。分层分析显示,C1019T C等位基因仅在男性受试者中显着增加了CAD风险(p = 0.006; OR 1.38; 95%CI 1.09-1.74)。在调整了常规危险因素后,二元逻辑回归分析表明C1019T的C等位基因携带者(CC + CT)是CAD的独立危险因素(p <0.05)。进一步的连锁不平衡测试和单倍型分析显示,C-C-D单倍型导致CAD风险增加。结论:我们的研究表明,GJA4基因C1019T多态性和/或其相关的C-C-D单倍型可能导致CAD风险增加,并可能在中国北方汉族人群冠状动脉粥样硬化的发展中发挥重要作用。

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