AIM: To investigate the relationship between high temperature essential factor A-1(HTRA1)polymorphism and genetic susceptibility of wet age-related macular degeneration(AMD)in Han population.

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.