Environmental and genetic risk factors for retinal angiomatous proliferation

Abstract

Purpose: To identify genetic and environmental risk factors in patients with retinal angiomatous proliferation (RAP).

Methods: In this case-control study, 108 cases with RAP, 258 patients with choroidal neovascularisation (CNV) without RAP and 443 healthy controls were evaluated. Single nucleotide polymorphisms of age related maculopathy susceptibility 2 (ARMS2) and complement factor H (CFH), and environmental risk factors including arterial hypertension, body mass index and smoking were analysed. Statistical analysis was performed by univariate and multivariate regression analysis and odds ratios (OR) and 95% confidence intervals (CI) were calculated.

Results: In our cohort, higher age, female sex, and genetic variants in CFH and ARMS2 were identified as risk factors for developing CNV without RAP as well as for RAP. For RAP patients, additionally arterial hypertension was determined as a risk factor (OR 2.39 95% CI 1.47-3.90; p=0.0005). Comparing the RAP with the CNV-non-RAP group, higher age (OR 1.05; 95% CI 1.01-1.09; p=0.008) and arterial hypertension (OR 1.82; 95% CI 1.08-3.05; p=0.02) were significantly associated with RAP, whereas heterozygous (OR 0.54; 95% CI 0.31-0.94; p=0.03) and homozygous CFH risk alleles (OR 0.40; 95% CI 0.21-0.73; p=0.003) occurred less frequent in RAP patients, which was confirmed in multivariate analysis (OR 0.41; 95% CI 0.19-0.91; p=0.03 for heterozygous risk allele and OR 0.38; 95% CI 0.16-0.89; p=0.03 for homozygous risk allele).

Conclusions: Risk factors for developing RAP are comparable to other CNV subgroups but CFH seems to play an inferior role in RAP lesions compared to ARMS2.

Keywords: 412 age-related macular degeneration • 539 genetics • 464 clinical (human) or epidemiologic studies: risk factor assessment