An association of neovascular age‐related macular degeneration with polymorphisms of CFH, ARMS2, HTRA1 and C3 genes in Czech population

• Published in: Acta ophthalmologica (Oxford, England) England), 2020-09, Vol.98 (6), p.e691-e699
• Main Authors: Matušková, Veronika, Zeman, Tomáš, Ewerlingová, Laura, Hlinomazová, Zuzana, Souček, Jan, Vlková, Eva, Goswami, Nandu, Balcar, Vladimir J., Šerý, Omar
• Format: Article
• Language: English
• Subjects: Age; Aged; Aged, 80 and over; C3 gene; Case-Control Studies; Complement C3 - genetics; Complement component C3; Complement factor H; Complement Factor H - genetics; Czech Republic; Female; gene; Gene polymorphism; Genes; Genotype & phenotype; High-Temperature Requirement A Serine Peptidase 1 - genetics; Humans; inflammation; Macular degeneration; Macular Degeneration - genetics; Male; obesity; Obesity, Abdominal - complications; Polymorphism; Polymorphism, Single Nucleotide; Population; Proteins - genetics; retina; risk; Risk Factors; Serine; Serine proteinase; Sex differences; Sex Factors; Statistical analysis; Surgery; Temperature requirements
• ISSN: 1755-375X; 1755-3768
• DOI: 10.1111/aos.14357

Purpose We investigated associations between neovascular age‐related macular degeneration (AMD) and rs10490924 polymorphism of ARMS2 gene (age‐related maculopathy susceptibility 2), rs1061170 polymorphism of gene for complement factor H (CFH), rs2230199 polymorphism of gene for complement component C3 and rs11200638 polymorphism of gene for serine protease high‐temperature requirement A1 (HTRA1) in the Czech population. Methods We analysed samples of DNA from 307 patients diagnosed with neovascular form of late AMD (average age: 73.7 ± 7.7 years) and 191 control subjects, recruited from patients awaiting cataract surgery (average age, 73.6 ± 8.7 years). Results HTRA1, CFH and ARMS2 genes polymorphisms were found to be related to neovascular AMD in the Czech population. All analysed polymorphisms were statistically significantly associated with neovascular AMD, with stronger associations in females than in males. In whole group, CC genotype of CFH gene polymorphism, TT genotype of ARMS2 gene polymorphism and AA genotype of HTRA1 gene polymorphism showed the greatest risk for neovascular AMD with odds ratios equal to 8.43, 10.07, 9.83, respectively (p