Study on the Association between R219K Polymorphism of ATP-binding Cassette Transporter A1 Gene and Coronary Heart Disease in Uygur and Han_West China Medical Journal

Authors：

MAO Ying ^1,2 , DENG Fengmei ³ , CHEN Yulan ¹ , WU Guizhen ⁴ , ZOU Jianping ¹ ,  HE Bingxian. ¹

1. Cardiac Center, the First Affiliated Hospital of Xinjiang Medical University, Urumqi, Xijiang 830054, P.R. China; 2. Department of Cardiology, the Fifth Affiliated Hospital of Xinjiang Medical University, Urumqi, Xinjiang 830011, P. R. China; 3. Key Laboratory of Xinjiang Endemic and Ethnic Diseases/College of Medicine, Shihezi University, Shihezi, Xinjiang 832002, P. R. China; 4. Molecular Biology Laboratory, Xinjiang Medical University, Urumqi, Xinjiang 830011, P. R. China;

Corresponding author：

HE Bingxian., Email: mimu_mao@163.com

Keywords：

冠心病; 基因; ATP结合盒转运子A1; 维吾尔族; 汉族

DOI：

10.7507/1002-0179.20130488

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目的　探讨ATP结合盒转运子A1（ABCA1）基因R219K多态性与新疆维吾尔族和汉族冠心病及血脂的相关性。方法　收集2006年12月－2008年5月住院及门诊患者中无血缘关系的维吾尔族、汉族为研究对象。冠心病组377例，其中维吾尔族199例，汉族178例；对照组178例，其中维吾尔族83例，汉族95例。用聚合酶链式反应限制性片段长度多态性方法，检测维吾尔族和汉族冠心病组及对照组ABCA1基因R219K多态性，并比较不同基因型间血脂水平。结果　ABCA1基因R219K多态性K等位基因频率在维吾尔族冠心病组和对照组间分布差异有统计学意义（P＜0.05）。维吾尔族对照组中载脂蛋白A水平在KR型高于KK型，汉族冠心病组中低密度脂蛋白胆固醇水平在KR型高于KK型，差异有统计学意义（P＜0.05），但不具有临床意义。不同基因型间的其余血脂水平差异无统计学意义（P＞0.05）。结论　ABCA1基因R219K多态性K等位基因频率与维吾尔族冠心病相关，K等位基因可能降低其发病风险；ABCA1 R219K多态性等位基因频率在维吾尔族和汉族间无差异，且对维吾尔族、汉族血脂水平无明显影响。

Citation： MAO Ying,DENG Fengmei,CHEN Yulan,WU Guizhen,ZOU Jianping,HE Bingxian.. Study on the Association between R219K Polymorphism of ATP-binding Cassette Transporter A1 Gene and Coronary Heart Disease in Uygur and Han. West China Medical Journal, 2013, 28(10): 1545-1550. doi: 10.7507/1002-0179.20130488 Copy

1.	Alpert JS, Thygesen K, Antman E, et al. Myocardial infarction redefined--a consensus document of the Joint European Society of Cardiology/American College of Cardiology Committee for the redefinition of myocardial infarction[J]. J Am Coll Cardiol, 2000, 36(3): 959-969.
2.	Cenarro A, Artieda M, Castillo S, et al. A common variant in the ABCA1 gene is associated with a lower risk for premature coronary heart disease in familial hypercholesterolaemia[J]. J Med Genet, 2003, 40(3): 163-168.
3.	Benton JL, Ding J, Tsai MY, et al. Associations between two common polymorphisms in the ABCA1 gene and subclinical atherosclerosis: Multi-Ethnic Study of Atherosclerosis (Mesa)[J]. Atherosclerosis, 2007, 193(2): 352-360.
4.	Clee SM, Zwinderman AH, Engert JC, et al. Common genetic variation in ABCA1 is associated with altered lipoprotein levels and a modified risk for coronary artery disease[J]. Circulation, 2001, 103(9): 1198-1205.
5.	Harada T, Imai Y, Nojiri T, et al. A common Ile 823 Met variant of ATP-binding cassette transporter A1 gene (ABCA1) alters high density lipoprotein cholesterol level in Japanese population[J]. Atherosclerosis, 2003, 169(1): 105-112.
6.	赵水平, 肖志杰, 聂赛, 等. 冠心病患者ATP结合盒转运子1基因R219K变异的研究[J]. 中华心血管病杂志, 2004, 32(8): 712-716.
7.	吴银, 白怀, 刘瑞, 等. 中国人内源性高甘油三酯血症患者ATP结合盒转运子A1基因R219K多态性研究[J]. 中华医学遗传学杂志, 2007, 24(2): 177-181.
8.	孙明慧, 马依彤, 谢翔, 等. ABCAl基因R219K多态性在新疆维吾尔族、汉族分布特征及与血脂水平关系[J]. 中华实用诊断与治疗杂志, 2011, 25(1): 14-17.
9.	刘静, 高清歌, 高静媛, 等. ATP结合盒转运子A1R219K基因多态性与2型糖尿病合并冠心病的相关性研究[J]. 中国糖尿病杂志, 2008, 16(2): 104-106.
10.	张步春, 刘伟静, 李海玲, 等. 中国汉族人群ATP结合盒转运子A1基因R219K多态性与冠心病关联研究的荟萃分析[J]. 中国动脉硬化杂志, 2012, 20(8): 744-748.
11.	Tregouet DA, Ricard S, Nicaud V, et al. In-depth haplotype analysis of ABCA1 gene polymorphisms in relation to plasma ApoA1 levels and myocardial infarction[J]. Arterioscler Thromb Vasc Biol, 2004, 24(4): 775-781.
12.	李亚, 张思仲, 马用信, 等. ABCA1基因多态性与冠心病相关性研究[J]. 遗传, 2005, 27(4): 549-552.

1. 　Alpert JS, Thygesen K, Antman E, et al. Myocardial infarction redefined--a consensus document of the Joint European Society of Cardiology/American College of Cardiology Committee for the redefinition of myocardial infarction[J]. J Am Coll Cardiol, 2000, 36(3): 959-969.
2. 　Cenarro A, Artieda M, Castillo S, et al. A common variant in the ABCA1 gene is associated with a lower risk for premature coronary heart disease in familial hypercholesterolaemia[J]. J Med Genet, 2003, 40(3): 163-168.
3. 　Benton JL, Ding J, Tsai MY, et al. Associations between two common polymorphisms in the ABCA1 gene and subclinical atherosclerosis: Multi-Ethnic Study of Atherosclerosis (Mesa)[J]. Atherosclerosis, 2007, 193(2): 352-360.
4. 　Clee SM, Zwinderman AH, Engert JC, et al. Common genetic variation in ABCA1 is associated with altered lipoprotein levels and a modified risk for coronary artery disease[J]. Circulation, 2001, 103(9): 1198-1205.
5. 　Harada T, Imai Y, Nojiri T, et al. A common Ile 823 Met variant of ATP-binding cassette transporter A1 gene (ABCA1) alters high density lipoprotein cholesterol level in Japanese population[J]. Atherosclerosis, 2003, 169(1): 105-112.
6. 　赵水平, 肖志杰, 聂赛, 等. 冠心病患者ATP结合盒转运子1基因R219K变异的研究[J]. 中华心血管病杂志, 2004, 32(8): 712-716.
7. 　吴银, 白怀, 刘瑞, 等. 中国人内源性高甘油三酯血症患者ATP结合盒转运子A1基因R219K多态性研究[J]. 中华医学遗传学杂志, 2007, 24(2): 177-181.
8. 　孙明慧, 马依彤, 谢翔, 等. ABCAl基因R219K多态性在新疆维吾尔族、汉族分布特征及与血脂水平关系[J]. 中华实用诊断与治疗杂志, 2011, 25(1): 14-17.
9. 　刘静, 高清歌, 高静媛, 等. ATP结合盒转运子A1R219K基因多态性与2型糖尿病合并冠心病的相关性研究[J]. 中国糖尿病杂志, 2008, 16(2): 104-106.
10. 　张步春, 刘伟静, 李海玲, 等. 中国汉族人群ATP结合盒转运子A1基因R219K多态性与冠心病关联研究的荟萃分析[J]. 中国动脉硬化杂志, 2012, 20(8): 744-748.
11. 　Tregouet DA, Ricard S, Nicaud V, et al. In-depth haplotype analysis of ABCA1 gene polymorphisms in relation to plasma ApoA1 levels and myocardial infarction[J]. Arterioscler Thromb Vasc Biol, 2004, 24(4): 775-781.
12. 　李亚, 张思仲, 马用信, 等. ABCA1基因多态性与冠心病相关性研究[J]. 遗传, 2005, 27(4): 549-552.

West China Medical Journal

Study on the Association between R219K Polymorphism of ATP-binding Cassette Transporter A1 Gene and Coronary Heart Disease in Uygur and Han

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