Han Hongmei, Zhang Jianxia, Hou Jianghong, Wang Haibo, Zheng Jianpeng, Wang Huan, Zhong Zhong, Wang Yijin, Wang Xiaoni, Yang Bei, Wang Lei, Quan Dangjun, Li Junnong
Department of Cardiovascular Medicine, Weinan Central Hospital, Weinan 714000, Shaanxi, China.
Oncotarget. 2017 Jun 28;8(40):67519-67525. doi: 10.18632/oncotarget.18727. eCollection 2017 Sep 15.
Genome-wide association studies have identified that gene was associated with telomere length and age-related diseases. However, little study directly focused on the association between gene polymorphisms and risk of coronary heart disease (CHD). We conducted a case-control study to examine the effect of polymorphisms on CHD risk among 596 CHD patients and 603 healthy controls from China. Five significant single nucleotide polymorphisms (SNP) in were selected and genotyped using Sequenom Mass-ARRAY technology. Odds ratios (OR) and 95% confidence intervals (CIs) were calculated using unconditional logistic regression adjusting for age and gender. Allelic model analysis revealed that for rs10069690, allele frequency distributions differed between cases and controls (OR= 1.267, 95%CI = 1.018-1.576; = 0.034). Genotypic model analysis revealed that genotype frequency distributions of rs10069690 differed between cases and controls after adjusted by age and sex (TC vs. CC: adjusted OR = 1.352, 95% CI = 1.007-1.815; = 0.045). Genetic model analysis revealed that rs10069690 was associated with an increased risk of CHD under co-dominant, dominant, over-dominant and log-additive models. After adjustments, it remained significant under over-dominant model (adjusted OR = 1.35, 95% CI = 1.01-1.81; = 0.044). Our results shed new light on the association between telomere-related gene polymorphisms and CHD susceptibility in a Chinese Han population.
全基因组关联研究已经确定该基因与端粒长度及年龄相关疾病有关。然而，很少有研究直接关注该基因多态性与冠心病（CHD）风险之间的关联。我们进行了一项病例对照研究，以检验该多态性对来自中国的596例冠心病患者和603例健康对照者患冠心病风险的影响。选择了该基因中的五个显著单核苷酸多态性（SNP），并使用Sequenom Mass-ARRAY技术进行基因分型。采用无条件逻辑回归计算比值比（OR）和95%置信区间（CI），并对年龄和性别进行校正。等位基因模型分析显示，对于rs10069690，病例组和对照组的等位基因频率分布存在差异（OR = 1.267，95%CI = 1.018 - 1.576；P = 0.034）。基因型模型分析显示，在按年龄和性别校正后，rs10069690的基因型频率分布在病例组和对照组之间存在差异（TC与CC相比：校正后的OR = 1.352，95%CI = 1.007 - 1.815；P = 0.045）。遗传模型分析显示，在共显性、显性、超显性和对数加性模型下，rs10069690与冠心病风险增加相关。校正后，在超显性模型下仍具有显著性（校正后的OR = 1.35，95%CI = 1.01 - 1.81；P = 0.044）。我们的研究结果为中国汉族人群中端粒相关基因多态性与冠心病易感性之间的关联提供了新的线索。
