目的：进行三磷酸腺苷结合盒转运体A1（ATP binding cassette transporter A1,ABCA1）基因单核苷酸多态性（single nucleotide polymorphisms,SNP）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 Mass Array系统对该人群的ABCA1基因9个SNP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,r2〉1/3）,对其构建的6种单倍型在两组的分布差异无统计学意义（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 correlation of single nucleotide polymorphisms （SNP） of ATP binding cassette transporter A1 gene （ABCA1） and lower extremity atherosclerotic disease （LEAD）. Methods： The clinical data and peripheral blood were col- lected from 630 participants （314 LEAD cases and 316 normal controls） in Han population of Minnan. The 9 SNP genotypes in the ABCA1 gene were detected by Sequenom MassArray. Results： Among the 9 SNP genotypes, rs2980083 was rejected because it wash＇ t in accordance with Hardy-Weinberg equilibrium. Obvious linkage disequilibrium was found between rs2066714 and rs2066715, rs1800976 and rs2246293, rs2246293 and rs2980083, and rs1800976 and rs2980083 （D＇ 〉 0.9 ,r2 〉 1/3）. There were no significant differenees （ P 〉 0.05 ） in 6 haplotypes of ABCA1 gene groups between the LEAD eases and the normal controls. No significant differ- ences （ P 〉 0.05 ） were found in frequency distribution between the LEAD cases and the normal controls in 8 SNP according to the re- sults of genotype statistics. There was no onset risk of LEAD according to the gene logistie regression analysis. Conelusion： The SNPs of rs10124755, rs2980083, rs1800976, rs4149341, rs2066714, rs2066715, rs2066716, rs2230808 and rs2246293 might not eorrelate with the susceptibility of LEAD in Han population of Minnan.2013年度南京军区医学科技创新课题（编号：MS098
