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载脂蛋白A5基因-12238T/C多态性与新疆维吾尔族冠心病的相关性
引用本文:袁山,马依彤,谢翔,杨毅宁,付真彦,马翔,李晓梅,向阳,刘芬,陈邦党. 载脂蛋白A5基因-12238T/C多态性与新疆维吾尔族冠心病的相关性[J]. 中华医学遗传学杂志, 2011, 28(1). DOI: 10.3760/cma.j.issn.1003-9406.2011.01.017
作者姓名:袁山  马依彤  谢翔  杨毅宁  付真彦  马翔  李晓梅  向阳  刘芬  陈邦党
作者单位:新疆医科大学第一附属医院心脏中心冠心病科,乌鲁木齐,830054
基金项目:新疆自治区重大科技专项课题
摘    要:目的 研究载脂蛋白A5(apolipoprotein A5,APOA5)-12238T/C多态性与新疆维吾尔族冠状动脉粥样硬化性心脏病(简称冠心病)及血脂水平的相关性.方法 采用聚合酶链反应-限制性片段长度多态性方法,对344例冠心病患者和408例同期入院冠状动脉造影结果阴性的患者(对照组)APOA5基因-12238T/C多态性进行检测,同时进行血脂水平的测定.结果 APOA5基因-12238T/C的3种基因型在冠心病组的分布频率分别为:TT型50.00%,TC型43.31%,CC型6.69%;在对照组的分布分别为:TT型39.95%,TC型45.10%,CC型14.95%,两组基因型分布差异具有统计学意义(P<0.01).通过Logistics回归校正了年龄、性别,吸烟史、血脂、高血压、糖尿病史等影响因素后,CC基因型的个体患冠心病的风险是TT型的0.328倍(OR=0.328,95%CI:0.154~0.700).冠心病组-12238T/C基因型亚组间的甘油三酯水平的差异有统计学意义(P<0.05),CC及TC基因型较TT型有更低的甘油三酯水平.结论 APOA5基因-12238T/C多态性对新疆维吾尔族人血清甘油三酯水平有影响,并且与冠心病的发生有一定的相关性,CC基因型可能是冠心病发生的一个保护因素.
Abstract:
Objective To investigate the association of the -12238T/C polymorphism of apolipoprotein A5 (APOA5) gene with coronary heart disease (CHD) and the influence of serum lipid levels in Chinese Uygur population of Xinjiang. Methods The -12238T/C polymorphism of APOA5 gene in 344 patients with CHD and 408 controls was analyzed by polymerase chain reaction restriction fragment length polymorphism; the serum lipid levels were detected as well. Results The frequencies of CC, TC and TT genotype were 6.69%, 43.31% and 50. 00% in the CHD group, while they were 14. 95%, 45.10% and 39.95% in the control group. There was significant difference in the distribution of genotypes between the two groups (P< 0. 01). Logistic regression analyses adjusted for age, gender, smoking, serum total cholesterol, presence of hypertension and diabetes revealed that individuals carrying CC genotype had an increased risk of CHD compared with TT genotype (OR=0. 328,95% CI: 0. 154-0. 700). There was also significant difference in serum triglyceride level in genotypes between these two groups (P<0.01). Patients in CHD group who carried CC and TC genotypes had lower serum triglyceride level than the TT genotype carriers. Conclusion The - 12238T/C polymorphism of APOA5 gene has influence on the serum triglyceride level in Uygur population of Xinjiang. This polymorphism might be associated with development of CHD, and the CC genotype might be a protective factor in the development of CHD.

关 键 词:载脂蛋白A5  甘油三酯  冠状动脉粥样硬化性心脏病  遗传多态性

Association of apolipoprotein A5 gene polymorphism with coronary heart disease in Uygur population of Xinjiang
YUAN Shan,MA Yi-tong,XIE Xiang,YANG Yi-ning,FU Zhen-yan,MA Xiang,LI Xiao-mei,XIANG Yang,LIU Fen,CHEN Bang-dang. Association of apolipoprotein A5 gene polymorphism with coronary heart disease in Uygur population of Xinjiang[J]. Chinese journal of medical genetics, 2011, 28(1). DOI: 10.3760/cma.j.issn.1003-9406.2011.01.017
Authors:YUAN Shan  MA Yi-tong  XIE Xiang  YANG Yi-ning  FU Zhen-yan  MA Xiang  LI Xiao-mei  XIANG Yang  LIU Fen  CHEN Bang-dang
Abstract:Objective To investigate the association of the -12238T/C polymorphism of apolipoprotein A5 (APOA5) gene with coronary heart disease (CHD) and the influence of serum lipid levels in Chinese Uygur population of Xinjiang. Methods The -12238T/C polymorphism of APOA5 gene in 344 patients with CHD and 408 controls was analyzed by polymerase chain reaction restriction fragment length polymorphism; the serum lipid levels were detected as well. Results The frequencies of CC, TC and TT genotype were 6.69%, 43.31% and 50. 00% in the CHD group, while they were 14. 95%, 45.10% and 39.95% in the control group. There was significant difference in the distribution of genotypes between the two groups (P< 0. 01). Logistic regression analyses adjusted for age, gender, smoking, serum total cholesterol, presence of hypertension and diabetes revealed that individuals carrying CC genotype had an increased risk of CHD compared with TT genotype (OR=0. 328,95% CI: 0. 154-0. 700). There was also significant difference in serum triglyceride level in genotypes between these two groups (P<0.01). Patients in CHD group who carried CC and TC genotypes had lower serum triglyceride level than the TT genotype carriers. Conclusion The - 12238T/C polymorphism of APOA5 gene has influence on the serum triglyceride level in Uygur population of Xinjiang. This polymorphism might be associated with development of CHD, and the CC genotype might be a protective factor in the development of CHD.
Keywords:apolipoprotein A5  triglyceride  coronary heart disease  genetic polymorphism
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