利用全基因组SNP芯片筛查2型糖尿病患者大血管-第三军医大学学报.DOC

利用全基因组SNP芯片筛查2型糖尿病患者大血管病变易感基因 朱 沂1，张晓莉1，张忠辉2，张 峰3，张永彪3，府伟灵1（400038重庆，第三军医大学西南医院：检验科1，内分泌科2 ；101300北京，中国科学院北京基因组所3） 【摘要】 目的 分析筛查2型糖尿病（T2DM）病人早期大血管病变的易感基因和单核苷酸多态性（Single nucleotide polymorphism，SNP）位点。方法 利用ILLUMINA人类全基因组SNP芯片(HumanCytoSNP-12 v1.0 DNA Analysis BeadChip Kit)对在经多因素干预下仍出现大血管病变的34例2型糖尿病病例及同样条件下未发大血管病变的52例对照进行SNP扫描分型；通过全基因组关联分析，筛选2型糖尿病早期大血管病变的易感基因和遗传标记。结果 通过PLINK软件对芯片结果进行全基因组关联分析(Genome-wide Association Study, GWAS)，筛选出在病例组和对照组间有显著差异（p＜0.001）的SNP位点总计452个，其中处于T2DM大血管病变主要代谢通路相关基因内或者附近的SNP位点37个,通过这些SNP位点锁定T2DM患者大血管病变易感基因30个。结论 T2DM大血管病变受遗传多态性影响，可能与多个基因以及位点相关。 【关键词】 2型糖尿病；大血管病变；单核苷酸多态性；易感基因；全基因组SNP芯片 【中图法分类号】 【文献标志码】A Screening for macroangiopathy susceptibility genes of in type 2 diabetes mellitus patients with whole genome -wide SNP array Zhu Yi1, Zhang Xiaoli1, Zhang Zhonghui2, Zhang Feng3, Zhang Yongbiao3, Fu Weiling1 (1Department of Laboratory Medicine, 2Department of Endocrinology, Southwest Hospital, Third Military Medical University, Chongqing, 400038；; 3Genomics Institute of Chinese Academy of Sciences, Beijing, 101300, China) 【Abstract】 Objective The aim of this study is to analyze and screen for macroangiopathy susceptibility genes and single nucleotide polymorphism (SNP) loci ofin type 2 diabetes mellitus (T2DM) patients. Methods The DNA sample of 34 patients with type 2 diabetes who had been interfered inwith multiple risk factors of macroangiopathy but still developed to be atherosclerosis and 54 other T2DM patients under the same conditions but had nowithout arteriosclerosis were scanned by hHuman whole genome-wide SNP array of ILLUMINA (HumanCytoSNP-12 v1.0 DNA Analysis Bead Chip Kit);. screening ofThe susceptibility genes and genetic markers of macroangiopathy in type 2 diabetes were screened through the Ggenome-wide association analysis (GWA). Results The Rresultss of chip test were studied befor Ggenome-wide Aassociation Studied onby PLINK software,. There were 452 SNPs werefound to be significantly differe