中文摘要：

目的：研究欧美白种人全基因组关联研究新鉴定的4个血脂与冠心病易感基因在中国汉族人群中与冠心病易感性的关系。方法：采用病例一对照研究方法，按照WHO冠心病诊断标准，选取冠心病病例1000例，年龄和性别频数匹配的对照1000例，采用Taqman基因分型技术检测基因多态性。结果：位于SORTI基因区域的rs599839和位于NCAN基因区域的rs16996148与中国汉族人冠心病发病风险有显著性关联。与rs599839基因型为AA者相比，基因型为AG者患冠心病的危险性降低（OR=0．64，95％CI=0．48。0．85，P=0．002）；与rs16996148基因型为GG者相比，基因型为GT者患冠心病的危险性降低（OR=0．67．95％CI=0.52～0．91，P=0．008）。未发现位于B4GALT4基因区域的rs12695382和B3GALT4基因区域的rs2254287与中国汉族人冠心病发病风险有关。结论：欧美白种人新鉴定的两个血脂相关基因SORT1和NCAN与中国汉族人群的冠心病发病风险有关。

英文摘要：

Objective To explore the relation of newly genome-wide association study （GWAS） identified lipid-associated genes by euramerican white and coronary heart disease （CHD） susceptibility in Chinese Han population. Methods One thousand patients with CHD were enrolled according to WHO criteria. 1000 age- and sex- matched controls were included. Single-nucleotide polymorphisms （SNPs） were detected by Taqman technique. Results Two novel SNPs （rs599839 in SORT1 region and rs16996148 in NCAN region） were significantly associated with CHD risk in Chinese Han population. Compared to AA genotype of rs599839, subjects with AG genotype of rs599839 （OR = 0.64, 95%CI= 0.48 ~ 0.85, P= 0.002 and OR = 0.67, 95%CI = 0.52 - 0.91, P= 0.008, respectively）. Compared to GG genotype of rs16996148, subjects with GT genotype were associated with significantly decreased risk of CHD（OR = 0.67, 95%CI = 0.52 ~ 0.91, P = 0.008）o Two another SNPs （rs12695382 in B4GALT4 region and rs2254287 in B3GALT4 region） were not significantly associated with CHD in Chinese Han population. Conclusions Two novel SNPs （rs599839 and rs16996148） at newly identified lipid-associated loci were significantly associated with CHD susceptibility in Chinese Han population.