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結合盒轉運子A1; 維吾爾族; 漢族

DOI：

10.7507/1002-0179.20130488

Video：

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目的　探討ATP結合盒轉運子A1（ABCA1）基因R219K多態性與新疆維吾爾族和漢族冠心病及血脂的相關性。方法　收集2006年12月－2008年5月住院及門診患者中無血緣關系的維吾爾族、漢族為研究對象。冠心病組377例，其中維吾爾族199例，漢族178例；對照組178例，其中維吾爾族83例，漢族95例。用聚合酶鏈式反應限制性片段長度多態性方法，檢測維吾爾族和漢族冠心病組及對照組ABCA1基因R219K多態性，并比較不同基因型間血脂水平。結果　ABCA1基因R219K多態性K等位基因頻率在維吾爾族冠心病組和對照組間分布差異有統計學意義（P＜0.05）。維吾爾族對照組中載脂蛋白A水平在KR型高于KK型，漢族冠心病組中低密度脂蛋白膽固醇水平在KR型高于KK型，差異有統計學意義（P＜0.05），但不具有臨床意義。不同基因型間的其余血脂水平差異無統計學意義（P＞0.05）。結論　ABCA1基因R219K多態性K等位基因頻率與維吾爾族冠心病相關，K等位基因可能降低其發病風險；ABCA1 R219K多態性等位基因頻率在維吾爾族和漢族間無差異，且對維吾爾族、漢族血脂水平無明顯影響。

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.	趙水平, 肖志杰, 聶賽, 等. 冠心病患者ATP結合盒轉運子1基因R219K變異的研究[J]. 中華心血管病雜志, 2004, 32(8): 712-716.
7.	吳銀, 白懷, 劉瑞, 等. 中國人內源性高甘油三酯血癥患者ATP結合盒轉運子A1基因R219K多態性研究[J]. 中華醫學遺傳學雜志, 2007, 24(2): 177-181.
8.	孫明慧, 馬依彤, 謝翔, 等. ABCAl基因R219K多態性在新疆維吾爾族、漢族分布特征及與血脂水平關系[J]. 中華實用診斷與治療雜志, 2011, 25(1): 14-17.
9.	劉靜, 高清歌, 高靜媛, 等. ATP結合盒轉運子A1R219K基因多態性與2型糖尿病合并冠心病的相關性研究[J]. 中國糖尿病雜志, 2008, 16(2): 104-106.
10.	張步春, 劉偉靜, 李海玲, 等. 中國漢族人群ATP結合盒轉運子A1基因R219K多態性與冠心病關聯研究的薈萃分析[J]. 中國動脈硬化雜志, 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.	李亞, 張思仲, 馬用信, 等. ABCA1基因多態性與冠心病相關性研究[J]. 遺傳, 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. 　趙水平, 肖志杰, 聶賽, 等. 冠心病患者ATP結合盒轉運子1基因R219K變異的研究[J]. 中華心血管病雜志, 2004, 32(8): 712-716.
7. 　吳銀, 白懷, 劉瑞, 等. 中國人內源性高甘油三酯血癥患者ATP結合盒轉運子A1基因R219K多態性研究[J]. 中華醫學遺傳學雜志, 2007, 24(2): 177-181.
8. 　孫明慧, 馬依彤, 謝翔, 等. ABCAl基因R219K多態性在新疆維吾爾族、漢族分布特征及與血脂水平關系[J]. 中華實用診斷與治療雜志, 2011, 25(1): 14-17.
9. 　劉靜, 高清歌, 高靜媛, 等. ATP結合盒轉運子A1R219K基因多態性與2型糖尿病合并冠心病的相關性研究[J]. 中國糖尿病雜志, 2008, 16(2): 104-106.
10. 　張步春, 劉偉靜, 李海玲, 等. 中國漢族人群ATP結合盒轉運子A1基因R219K多態性與冠心病關聯研究的薈萃分析[J]. 中國動脈硬化雜志, 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. 　李亞, 張思仲, 馬用信, 等. ABCA1基因多態性與冠心病相關性研究[J]. 遺傳, 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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