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OX40基因rs2298212位点与汉族人群冠状动脉粥样硬化疾病的关联研究
引用本文:程广辉,王慧,马龙,张凯,黎莉,龚瑶琴,刘奇迹.OX40基因rs2298212位点与汉族人群冠状动脉粥样硬化疾病的关联研究[J].中华医学遗传学杂志,2010,27(2).
作者姓名:程广辉  王慧  马龙  张凯  黎莉  龚瑶琴  刘奇迹
作者单位:1. 山东大学医学院医学遗传学研究所,实验畸形学教育部重点实验室,济南,250012
2. 山东大学医学院医学遗传学研究所,齐鲁医院心内科,济南,250012
基金项目:国家863项目,国家973项目 
摘    要:目的 探讨OX40基因(TNFRSF4)rs2298212G/A位点与山东汉族人群冠状动脉粥样硬化疾病的相关性.方法 在山东大学齐鲁医院心内科和健康体检中心分别收集到冠状动脉粥样硬化疾病患者536例和正常对照544名,采用聚合酶链反应-限制性片段长度多态性方法 对OX40基因rs2298212G/A多态性位点进行基因分型,并对数据进行统计分析.结果 基因型与等位基因频率分布在病例组与对照组之间差异均无统计学意义(P>0.05).在回归校正了年龄、性别、体重指数、收缩压、舒张压、血糖、总胆固醇及甘油三酯等因素的影响后,基因型频率分布差异仍无统计学意义(P>0.05).在对冠状动脉受累支数进行的分层分析发现,受累1支与受累3支之间,基因型与等位基因频率分布差异均有统计学意义(P<0.05).结论 OX40基因rs2298212G/A多态位点同山东汉族人群冠状动脉粥样硬化疾病之间无关联性存在,但该位点可能与冠状动脉粥样硬化的严重程度相关.

关 键 词:OX40基因  单核苷酸多态性  冠状动脉粥样硬化  关联分析

Association of rs2298212 polymorphism in OX40 gene with coronary atheroscleroticdisease in Chinese Han population
CHENG Guang-hui,WANG Hui,MA Long,ZHANG Kai,LI Li,GONG Yao-qin,LIU Qi-ji.Association of rs2298212 polymorphism in OX40 gene with coronary atheroscleroticdisease in Chinese Han population[J].Chinese Journal of Medical Genetics,2010,27(2).
Authors:CHENG Guang-hui  WANG Hui  MA Long  ZHANG Kai  LI Li  GONG Yao-qin  LIU Qi-ji
Abstract:Objective To study the association of the OX40 gene rs2298212G/A polymorphism with coronary atherosclerotic disease (CAD) in Chinese Han population. Methods Five hundred and thirty six CAD patients and 544 age and ethnic matched controls of Chinese Hah population were recruited from Qilu Hospital, Shandong University. Polymerase chain reaction-restriction fragment length polymorphism (PCRRFLP) was used to genotype the selected single nucleotide polymorphism. Distributions of genotypic and allelic frequencies were analyzed by Chi square test. Results The distribution of genotypic and allelic frequencies have no significant differences between the CAD cases and controls (P>0.05), even after adjusting for age, gender, body mass index, systolic blood pressure, diastolic blood pressure, glucose, total cholesterol, and triglyceride. However, when substratification analysis of the involved coronary artery vessels was performed, significant difference was found between single-vessel and triple-vessel (P=0.02,OR=1.56,95%CI:1.08-2.26) involvement. Conclusion The rs2298212G/A polymorphism in OX40 gene may be associated with the severity of coronary atherosclerotic disease.
Keywords:OX40 gene  single nucleotide polymorphism  coronary atherosclerotic disease  association study
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