目的：探讨高温必需因子A-1(HTRA1)多态性与汉族人群湿性年龄相关性黄斑变性(AMD)遗传易感性的关系。

方法：选取本院2014-05/2017-01收治的汉族湿性AMD患者201例，汉族正常健康者201例，分别设为病例组和健康组。采集研究对象外周静脉血样并提取基因组DNA，利用Sequenom质谱分析平台对HTRA1基因的rs11200638、rs2248799位点进行基因型检测，分析HTRA1多态性与湿性AMD遗传易感性的关系。

结果：两组研究对象rs11200638、rs2248799位点的基因型等级分布比较，差异均有统计学意义(P<0.01)，病例组AA、TT的频率分别为51.2%、57.7%，健康组AA、TT的频率分别为20.9%、28.4%，前者均明显高于后者，差异均有统计学意义(P<0.01)； 病例组rs11200638位点危险性等位基因A与rs2248799位点危险性等位基因T分布的频率分别为69.7%、73.6%，健康组分别为45.8%、52.5%，前者均明显高于后者，差异均有统计学意义(P<0.01)。rs11200638基因型AA、AG的OR值分别为5.36与3.45，是湿性AMD发病的危险因素(P<0.01)； rs2248799 基因型TT、TC的OR值分别为2.36与1.98，是湿性AMD发病的危险因素(P<0.01)。

结论：HTRA1基因rs11200638和rs2248799多态性与湿性AMD发病关系显著，基因型AA、TT与汉族人群湿性AMD患病风险关系密切，其频率增高可增加湿性AMD患病风险。

METHODS: Totally 201 patients of wet AMD in Han population were selected from May 2014 to January 2017 in our hospital as disease group, and 201 healthy persons of Han were selected as health group. Blood samples of peripheral vein were collected and genomic DNA was extracted. HTRA1 polymorphism loci were detected, and the rs11200638 and rs2248799 loci of HTRA1 gene were detected by Sequenom mass spectrometry platform. Then the relationship between HTRA1 polymorphism and genetic susceptibility of wet AMD were analyzed.

RESULTS: The grade distributions of the genotype of the rs11200638 and rs2248799 loci in the two groups subjects had significant differences(P<0.01), and the frequencies of AA and TT in the disease group were respectively 51.2% and 57.7%, of which the health group were respectively 20.9% and 28.4%, and the former were significantly higher than the latter, with significant differences(P<0.01). The frequencies of risk allele A of rs11200638 loci and risk allele T of rs2248799 loci in the disease group were respectively 69.7% and 73.6%, of which the health group respectively were 45.8% and 52.5%, and the former were significantly higher than the latter, with significant differences(P<0.01). The OR values of rs11200638 genotype AA and AG were respectively 5.36 and 3.45, which were the risk factors of wet AMD(P<0.01). The OR values of rs2248799 genotype TT and TC were respectively 2.36 and 1.98, which were the risk factors of wet AMD(P<0.01).

CONCLUSION: The rs11200638 and rs2248799 polymorphisms of HTRA1 gene are associated with the incidence of wet AMD, and the genotype AA and TT are closely related to the risk of wet AMD in Han population, of which the higher frequencies can increase the risk of wet AMD.