rs۱۰۷۳۷۶۸۰ polymorphism in complement factor H and neovascular age-related macular degeneration in Yogyakarta, Indonesia

Abstract Background: Neovascular age-related macular degeneration (nAMD) is one of the main causes of blindness in developed countries. Complement factor H (CFH) is one of the genes involved in the pathogenesis of nAMD. This study investigated the rs۱۰۷۳۷۶۸۰ polymorphism in CFH and its conferred susceptibility to nAMD in Yogyakarta, Indonesia. Methods: This case-control hospital-based study recruited participants consisting of ۹۶ patients with nAMD and ۱۰۱ controls without nAMD from the Eye Polyclinic of Sardjito Hospital, YAP Eye Hospital, and Hardjolukito Hospital Yogyakarta. nAMD was diagnosed when fundus examination, fundus photographs, and optical coherence tomography revealed hard or soft drusen in the macular area measuring > ۶۳ µm that appeared below the retinal pigment epithelium, with or without macular hypo- or hyperpigmentation, and was accompanied by choroidal neovascularization. Genomic DNA was extracted using a commercial DNA isolation kit. The restriction fragment length polymorphism technique was used to identify the rs۱۰۷۳۷۶۸۰ polymorphism in CFH. Results: The mean (standard deviation [SD]) age of the nAMD group was not homogeneous with that of the control group (P < ۰.۰۵); ۶۵.۴۱ (۹.۷۴) years versus ۶۸.۲۴ (۷.۸۲) years. The number of patients with hypertension in the nAMD group was significantly higher than in the control group (P < ۰.۰۵). In the nAMD group, the genotype distribution indicated homozygous risk allele in ۳۴.۳۸%, heterozygous risk allele in ۵۷.۲۹%, and homozygous non-risk allele in ۸.۳۳%. In the control group, the genotype distribution indicated homozygous risk allele in ۲۱.۷۸%, heterozygous risk allele in ۳۶.۶۳%, and homozygous non-risk allele in ۴۱.۵۸%. Statistical analysis between the two study groups according to homozygous risk allele genotype (odds ratio [OR], ۷.۸۷; ۹۵% confidence interval [CI], ۲.۸۸–۲۲.۷۹) and heterozygous genotype (OR, ۷.۸۰; ۹۵% CI, ۳.۱۱–۲۱.۱۹) showed a significant difference (both P < ۰.۰۱). Conclusions: Homozygous risk allele was less frequent than heterogeneous risk allele in patients with nAMD; however, both increased the risk for nAMD. Although the homozygous or heterozygous risk-alleles were detected in most patients, yet other important genetic or environmental factors could be involved in the pathogenesis of nAMD. Overall, we found a significant association between rs۱۰۷۳۷۶۸۰ polymorphism in CFH and the susceptibility to nAMD in Yogyakarta, Indonesia; however, future studies are needed to fully delineate the mechanism.