渗出性年龄相关性黄斑变性易感基因交互作用分析

摘要

目的 探讨渗出性年龄相关性黄斑变性(AMD)易感基因之间是否存在交互作用.方法 病例对照研究.对150例渗出性AMD患者与161例正常对照人群的C3 rs2230199(R102G)、C3rs1047286 (P314L)、LOC387715 rs10490924、HTRA1 rs11200638、CFH rs1410996(非编码区)及CFHrs1061170(Y402H)共6个单核苷酸多态性(SNP)位点的基因型进行对照分析.患者组与对照组的年龄比较采用t检验,性别比例和SNP位点的基因型分布比例比较采用x2检验.应用logistic回归模型和叉生分析法计算受检者各基因型间交互作用指数(SI),分析易感基因SNP位点间是否存在交互作用.结果 150例渗出性AMD患者中,男性88例(58.7％),女性62例(41.3％),平均年龄(66.6±7.7)岁；161例对照者中,男性84例(52.2％),女性77例(47.8％),平均年龄(65.7±8.4)岁；两组间性别(x2=1.32)和年龄(t=0.91)差异均无统计学意义(P＞0.05).SNP位点中,CFH rs1410996(x2=17.83)、LOC387715 rs10490924(x2=17.71)及HTRA1 rs11200138(x2 =2.77)位点的组间基因型分布比例差异有统计学意义(P＜0.05).各位点间交互作用分析,显示CFH rs1410996与LOC387715 rs10490924位点间无明显的交互影响(回归分析:P =0.41；叉生分析:SI=1.04,P=0.45),CFH rs1410996与HTRA1 rs11200138位点间也无明显的交互影响(回归分析:P=0.91；叉生分析:SI=1.42,P=0.17).结论 CFH非编码区SNP位点rs1410996与LOC387715 rs10490924和HTRA1 rs11200138位点间均无明显的交互作用.%Objective To determine the interaction of susceptibility genes in patients with exudative age-related macular degeneration (AMD) in a Chinese case-control cohort.Methods It was a case-control study.Six single nucleotide polymorphisms (SNPs) previousely genotyped in cases with exudative AMD and control indivisuals,including complement factor H (CFH) non-coding variant rs1410996,CFH rs1061170(Y402H),LOC387715 rs10490924,C3 rs2230199 ( R102G),C3 rs1047286 ( P314L),and HTRA1rs11200638,were selected for analyzing the interactions among susceptibility genes.The numerical data were examined by Student t test.The genotype distributions between cases and controls were compared using the x2 test.Genetic interactions were examined using logistic regression model and synergy index (SI) value based on crossover analysis table.Results A total of 150 cases with exudative AMD (88 male,62 female)and 161 control individuals (84 male,77 female) were included in this study.There was no significant difference in age (t =0.91,P =0.37) or gender (x2 =1.32,P =0.25 ) between the A MD cases and the controls.SNPs associated with the risk of exudative AMD included CFH non-coding variant rs1410996(x2 =17.83,P＜0.05),LOC387715 ra10490924 (x2 =17.71,P＜0.05) and HTRA1 rs11200138(x2 =2.77,P ＜ 0.05 ).No interaction was observed between CFH rsl410996 and LOC387715 rs10490924 ( logistic regression,P =0.41 ; SI =1.04,P =0.45 ) or between CFH rs1410996 and HTRA1 rs11200138 ( logistic regression,P =0.91 ; SI =1.42,P =0.17 ).Conclusion The data suggest that LOC387715rs10490924 / HTRA1 rs11200138 and CFH rs1410996 are independently associated with the risk of exudative AMD in Chinese.