渗出性年龄相关性黄斑变性易感基因交互作用分析

Interaction of susceptibility genes in patients with exudative age-related macular degeneration

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C3rs2230199（R102G）、C3rs1047286（P314L）、LOC387715rs10490924、HTRAlrsl1200638、CFHrs1410996（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（x^2=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（X^2=17．71）及HTRA1 rsl1200138（X^2=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CFHrsl410996与LOC387715 rs 10490924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），CFHrs1410996与HTRA1 rsl1200138位点间也无明显的交互影响（回归分析：P=0．91；叉生分析：S1=1．42，P=0．17）。结论CFH非编码区SNP位点rs1410996与LOC387715 rs10490924和HTRA1 rsl1200138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 HTRA1 rs11200638, 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 X^2 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 （X^2 =1.32, P =0.25） between the AMD cases and the controls. SNPs associated with the risk of exudative AMD included CFH non-coding variant rs1410996 （X^2 =17.83, P 〈0.05）, LOC387715 rs10490924 （X^2 = 17.71, P 〈0. 05） and HTRA1 rs11200138 （X^2 = 2. 77, P 〈 0.05）. No interaction was observed between CFH rs1410996 and LOC387715 rs1049092d （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 LOC387715 rs10490924 / HTRA1 rs11200138 and CFH rs1410996 are independently associated with the risk of exudative AMD in Chinese.