三磷酸腺苷结合盒转运体A1基因多态性与下肢动脉粥样硬化的相关性
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- 英文论文题名：Association between ATP binding cassette transporter A1 gene single nucleotide polymorphisms and lower extremity atherosclerotic disease
- 论文作者：林小凤 ; 戴成家 ; 连霞 ; 费燕
- 英文论文作者：Lin Xiaofeng ; Dai Chengjia ; Lian Xia ; Fei Yan ; Department of Pharmacy ; The 175th Hospital of PLA(Affiliated Southeast Hospital of Xiamen University)
- 年：2016
- 作者机构：解放军第175医院药学科/厦门大学附属东南医院;
- 论文关键词：ABCA1基因 ; 多态性 ; 关联分析 ; 下肢动脉粥样硬化
- 英文论文关键词：ATP binding cassette transporter A1 gene ; polymorphisms ; association study ; lower extremity atherosclerotic disease
- 会议召开时间：2016-09-27
- 会议录名称：中国药学会第十三届青年药学科研成果交流会论文集
- 语种：中文
- 分类号：R543.5
- 学会代码：YYWS
- 会议名称：中国药学会第十三届青年药学科研成果交流会
- 会议地点：中国江西南昌
- 主办单位：中国药学会
- 学会名称：中国药学会
- 页数：6
- 文件大小：339k
- 原文格式：O
- 会议级别：全国
摘要
目的:进行三磷酸腺苷结合盒转运体A1(ATP binding cassette transporter A1,ABCA1)基因多态性(single nucleotide polymorphisms,SNPs)与下肢动脉粥样硬化(lower extremity atherosclerotic disease,LEAD)的关联分析。方法:收集福建省闽南地区630例体检者(314例LEAD者和316例正常者)的临床资料及外周血;采用Sequenom MassArray系统对该人群的ABCA1基因9个单核苷酸多态性(single nucleotide polymorphisms,SNPs)位点进行检测。结果:9个SNP位点中,rs2980083位-点不符合Hardy-Weinberg平衡,分析中舍去;rs2066714与rs2066715,rs1800976与rs2246293,rs2246293与rs2980083,rs1800976与rs2980083等4组位点之间存在明显的连锁不平衡(D′>0.9,r~2>1/3),对其构建的6种单倍型在两组的分布无统计学差异(P>0.05);该8个SNP位点的基因型统计在病例对照分析中的分布频率未见显著差异(P>0.05),基因logistic回归分析未显示有患病风险。结论:闽南汉族人群ABCA1基因rs10124755、rs2980083、rs1800976、rs4149341、rs2066714、rs2066715、rs2066716、rs2230808、rs2246293多态性可能与LEAD的遗传易感性无关。
Objective To analyze the association between single nucleotide polymorphisms(SNPs) of ATP binding cassette transporter Al gene(ABCAl) and lower extremity atherosclerotic disease(LEAD).Methods The clinical data and peripheral blood were collected from 630 participants(314 LEAD cases and 316 normal controls) in Han population of Minnan.The 9SNP genotypes in the ABCAl gene were detected by Sequenom MassArray.Results rs2980083 wasn't in further analysis because the genotype distribution of rs2980083 wasn't in accordance with Hardy-Weinberg equilibrium.Obvious linkage disequilibrium was found between rs2066714 and rs2066715,between rsl800976 and rs2246293,between rs2246293 and rs2980083,and between rs 1800976 and rs2980083(D'>0.9,r2>1/3).There were no significant differences(P>0.05) in 6haplotypes of ABCAl gene groups between LEAD cases and normal groups.No significant differences(P>0.05) were observed in frequency distribution between LEAD cases and normal groups in 8 SNPs from genotype statistics.There was no onset risk of LEAD from gene logistic regression analysis.Conclusions The SNPs of rsl0124755,rs2980083,rsl800976,rs4149341,rs2066714,rs2066715,rs2066716,rs2230808,rs2246293 might not be associated with the susceptibility of LEAD in this community-based population.
Objective To analyze the association between single nucleotide polymorphisms(SNPs) of ATP binding cassette transporter Al gene(ABCAl) and lower extremity atherosclerotic disease(LEAD).Methods The clinical data and peripheral blood were collected from 630 participants(314 LEAD cases and 316 normal controls) in Han population of Minnan.The 9SNP genotypes in the ABCAl gene were detected by Sequenom MassArray.Results rs2980083 wasn't in further analysis because the genotype distribution of rs2980083 wasn't in accordance with Hardy-Weinberg equilibrium.Obvious linkage disequilibrium was found between rs2066714 and rs2066715,between rsl800976 and rs2246293,between rs2246293 and rs2980083,and between rs 1800976 and rs2980083(D'>0.9,r2>1/3).There were no significant differences(P>0.05) in 6haplotypes of ABCAl gene groups between LEAD cases and normal groups.No significant differences(P>0.05) were observed in frequency distribution between LEAD cases and normal groups in 8 SNPs from genotype statistics.There was no onset risk of LEAD from gene logistic regression analysis.Conclusions The SNPs of rsl0124755,rs2980083,rsl800976,rs4149341,rs2066714,rs2066715,rs2066716,rs2230808,rs2246293 might not be associated with the susceptibility of LEAD in this community-based population.
引文
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[3]张玲.DNA拓扑异构酶Ⅱ抑制剂以依赖LXR的方式诱导巨噬细胞ABCA1表达及胆固醇外输[D].天津:南开大学博士学位论文,2014.
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[6]Oram JF,Heinecke JW.ATP-binding cassette transporter Al:a cell cholesterol exporter that protects against cardio-vascular disease[J].Physiol Rev,2005,85:1343-372.
[7]Singaraja RR,Brunham LR,Visscher H,et al.Efflux and athero-sclerosis:the clinical and biochemical impact of variations in the ABCA1gene[J].Arterioscler Thromb Vasc Biol,2003,23:1322-332.
[8]Nagao K,Kimura Y,Ueda K.Lysine residues of ABCAl are required for the interaction with apoA-I.Biochim Biophys Acta,2012,1821(3):530-5.
[9]董渊,冉启军,魏泽红,等.ABCA1基因R1587K多态性与冠心病遗传易感性的系统评价[J].重庆医科大学学报,2015,40(10):1312-1317.
[10]杨景慧.老年人代谢性疾病及周围动脉闭塞性疾病基因关联研究[D].北京:解放军医学院解放军总医院硕士学位论文,2014.
[2]Shao B,Tang C,Sinha A,et al.Humans with atherosclerosis have impaired ABCAl cholesterol efflux and enhanced high-density lipoprotein oxidation by myeloperoxidase.Circ Res,2014,114:1733-1742.
[3]张玲.DNA拓扑异构酶Ⅱ抑制剂以依赖LXR的方式诱导巨噬细胞ABCA1表达及胆固醇外输[D].天津:南开大学博士学位论文,2014.
[4]唐朝克,姜志胜.ATP结合盒转运体基础与临床[M].北京:科技出版社,2011.
[5]Murano T,Yamaguchi T,Tatsuno I,et al.Subfraction analysis of circulating lipoproteins in a patient with Tangier disease due to a novel ABCA1 mutation[J].Clin Chim Acta,2016,452:167-72.
[6]Oram JF,Heinecke JW.ATP-binding cassette transporter Al:a cell cholesterol exporter that protects against cardio-vascular disease[J].Physiol Rev,2005,85:1343-372.
[7]Singaraja RR,Brunham LR,Visscher H,et al.Efflux and athero-sclerosis:the clinical and biochemical impact of variations in the ABCA1gene[J].Arterioscler Thromb Vasc Biol,2003,23:1322-332.
[8]Nagao K,Kimura Y,Ueda K.Lysine residues of ABCAl are required for the interaction with apoA-I.Biochim Biophys Acta,2012,1821(3):530-5.
[9]董渊,冉启军,魏泽红,等.ABCA1基因R1587K多态性与冠心病遗传易感性的系统评价[J].重庆医科大学学报,2015,40(10):1312-1317.
[10]杨景慧.老年人代谢性疾病及周围动脉闭塞性疾病基因关联研究[D].北京:解放军医学院解放军总医院硕士学位论文,2014.