Jun Ma, Xue-Qiang Guan, Jia Li, Yang-Jing Xue, Cheng Zheng, Ge Jin
The Department of Cardiology, 2nd Affiliated Hospital of Wenzhou Medical University, Wenzhou 325000, China.
Oncotarget. 2017 Jul 22;8(45):78419-78428. doi: 10.18632/oncotarget.19472. eCollection 2017 Oct 3.
To investigate the association of several single nucleotide polymorphisms (SNPs) within Interleukin-6 () and vitamin D receptor () gene, and additional gene- gene and gene- smoking interaction with coronary heart disease (CHD) risk in a Chinese population.
Hardy-Weinberg equilibrium (HWE) examination was used by SNPstats (http://bioinfo.iconcologia.net/SNPstats). Generalized multifactor dimensionality reduction (GMDR) was used to screen the best interaction combination among SNPs and smoking. Stratified analysis for gene- smoking interaction was investigated by logistic regression.
CHD risk was significantly higher in carriers with the C allele of rs1800796 within gene than those with GG genotype (GC+ CC versus GG), adjusted OR (95%CI) =1.62 (1.19-2.23); CHD risk was also higher in carriers with the T allele of rs2228570 within gene than those with CC genotype (CT+ TT versus CC), adjusted OR (95%CI) = 1.68 (1.26-2.17). However, we did not find any direct associations of the others SNPs in and gene with CHD risk. We also found a significant interaction between rs1800796 and smoking, the cross-validation consistency of this two- locus model was 10/ 10, and the testing accuracy was 60.11%. Current smokers with rs1800796- GC or CC genotype have the highest CHD risk, compared to never- smokers with rs1800796- GG genotype within gene, OR (95%CI) = 2.57 (1.74 -3.46).
We found that the C allele of rs1800796 within and T allele of rs2228570 within gene, interaction between rs1800796 and smoking were all associated with increased CHD risk.
研究白细胞介素-6（IL-6）和维生素D受体（VDR）基因内多个单核苷酸多态性（SNP），以及基因-基因和基因-吸烟相互作用与中国人群冠心病（CHD）风险的关联。
IL-6基因内rs1800796的C等位基因携带者的冠心病风险显著高于GG基因型携带者（GC + CC与GG相比），校正比值比（95%可信区间）=1.62（1.19 - 2.23）；VDR基因内rs2228570的T等位基因携带者的冠心病风险也高于CC基因型携带者（CT + TT与CC相比），校正比值比（95%可信区间）=1.68（1.26 - 2.17）。然而，我们未发现IL-6和VDR基因中的其他SNP与冠心病风险有任何直接关联。我们还发现rs1800796与吸烟之间存在显著相互作用，该两位点模型的交叉验证一致性为10/10，检验准确性为60.11%。与IL-6基因内rs1800796 - GG基因型的从不吸烟者相比，rs1800796 - GC或CC基因型的当前吸烟者的冠心病风险最高，比值比（95%可信区间）=2.57（1.74 - 3.46）。
我们发现IL-6基因内rs1800796的C等位基因、VDR基因内rs2228570的T等位基因以及rs1800796与吸烟之间的相互作用均与冠心病风险增加有关。
