Huang Er-Wen, Peng Long-Yun, Zheng Jin-Xiang, Wang Dan, Tan Xiao-Hong, Yang Zhong-Yi, Li Xue-Mei, Wu Qiu-Ping, Tang Shuang-Bo, Luo Bin, Quan Li, Liu Shui-Ping, Liu Xiao-Shan, Li Zhao-Hui, Shi He, Lv Guo-Li, Zhao Jian, Liu Chao, Cheng Jian-Ding
Department of Forensic Pathology, Zhongshan School of Medicine, Sun Yat-Sen University, Guangzhou, Guangdong, China.
Guangzhou Forensic Science Institute, Guangzhou, Guangdong, China.
J Hum Genet. 2016 May;61(5):389-93. doi: 10.1038/jhg.2015.158. Epub 2016 Jan 7.
A large-scale meta-analysis of 14 genome-wide association studies has identified and replicated a series of susceptibility polymorphisms for coronary artery disease (CAD) in European ancestry populations, but evidences for the associations of these loci with CAD in other ethnicities remain lacking. Herein we investigated the associations between ten (rs579459, rs12413409, rs964184, rs4773144, rs2895811, rs3825807, rs216172, rs12936587, rs46522 and rs3798220) of these loci and CAD in Southern Han Chinese (CHS). Genotyping was performed in 1716 CAD patients and 1572 controls using mass spectrography. Both allelic and genotypic associations of rs964184, rs2895811 and rs3798220 with CAD were significant, regardless of adjustment for covariates of gender, age, hypertension, type 2 diabetes, blood lipid profiles and smoking. Significant association of rs12413409 was initially not observed, but after the adjustment for the covariates, both allelic and genotypic associations were identified as significant. Neither allelic nor genotypic association of the other six polymorphisms with CAD was significant regardless of the adjustment. Our results indicated that four loci of the total 10 were associated with CAD in CHS. Therefore, some of the CAD-related loci in European ancestry populations are indeed susceptibility loci for the risk of CAD in Han Chinese.
一项对14项全基因组关联研究的大规模荟萃分析,已经在欧洲血统人群中识别并重复验证了一系列冠状动脉疾病(CAD)的易感性多态性,但这些基因座与其他种族CAD关联的证据仍然不足。在此,我们研究了其中10个基因座(rs579459、rs12413409、rs964184、rs4773144、rs2895811、rs3825807、rs216172、rs12936587、rs46522和rs3798220)与中国南方汉族(CHS)CAD的关联。使用质谱法对1716例CAD患者和1572例对照进行基因分型。无论对性别、年龄、高血压、2型糖尿病、血脂谱和吸烟等协变量进行调整,rs964184、rs2895811和rs3798220与CAD的等位基因和基因型关联均具有显著性。最初未观察到rs12413409的显著关联,但在对协变量进行调整后,等位基因和基因型关联均被确定为显著。无论是否进行调整,其他6个多态性与CAD的等位基因和基因型关联均不显著。我们的结果表明,在总共10个基因座中,有4个与中国南方汉族的CAD相关。因此,欧洲血统人群中一些与CAD相关的基因座确实是汉族人群患CAD风险的易感基因座。