rs9332739

Cross-sectional study of 835 CATT participants with neovascular AMD genotyped for SNPs in CFH, ARMS2, C3, LIPC, CFB, and C2. ARMS2 risk alleles were associated with larger total lesions (p=0.03) and increased intraretinal fluid (p=0.008); C3 risk alleles were associated with decreased intraretinal fluid (p=0.001) and retinal thickness (p=0.02); CFH risk alleles were associated with decreased total thickness (p=0.01).

This case-control study of 1844 unrelated white individuals examined the association between 8 SNPs in 5 genes (CFH, HTRA1/LOC387715, C2, CFB, C3) and advanced age-related macular degeneration (AMD), including geographic atrophy and choroidal neovascularization. All genetic variants showed strong associations with AMD, with odds ratios ranging from 0.44 (C2 rs9332739, protective) to 10.99 (HTRA1/LOC387715 rs10490924 TT). A combined predictive model including genetic variants and environmental factors (smoking, age, BMI) achieved 78.8% discrimination accuracy with ROC curve AUC of 0.82.

A case-control study investigating whether AMD-associated genetic variants predict treatment response. In 170 dry AMD patients treated with antioxidant supplements, CFH Y402H (rs1061170) carriers had significantly lower response rates (51.7% heterozygous/homozygous vs 75% wild-type, p=0.005), while protective variants in C2 (rs9332739) and CFB (rs4151667, rs2072633) showed improved response. In 52 neovascular AMD patients treated with ranibizumab, ARMS2 A69S (rs10490924) carriers had worse outcomes (46.4% responders vs 87.5% wild-type, p=0.002).