Correlation between genetic and environmental risk factors for age-related macular degeneration in Brazilian patients

Abstract

Purpose To analyze the correlations between age-related macular degeneration (AMD) and genetic and environmental risk factors for in a Brazilian population. Design Cross-sectional study with a control group. Methods We collected data on 236 participants 50 years of age or older (141 with AMD and 95 controls without the disease). Data was obtained using a questionnaire and included information on demographics, ocular and medical history, family history of AMD, lifestyle, and smoking and drinking habits. Genetic evaluations included direct sequencing for the LOC387715 (rs10490924) variant, as well as PCR and enzymatic digestion for the CFH Y402H (rs1061170) and HTRA1 (rs11200638) variants. We performed a risk assessment of environmental risk factors and genetic variants associated with AMD and determined correlations between AMD and the data collected using multiple linear regression analysis. Results Of the 141 AMD cases, 99 (70%) had advanced AMD in at least one eye (57% neovascular AMD and 13% geographic atrophy), and 42 (30%) had not-advanced AMD. Family history of AMD (OR: 6.58; 95% CI: 1.94–22.31), presence of cardiovascular disease (CVD) (OR: 2.39; 95% CI: 1.08–5.28), low physical activity level (OR: 1.39; 95% CI: 0.82–2.37), and high serum cholesterol (OR: 1.49; 95% CI: 0.84–2.65) were associated with an increased risk for AMD. There was a significant association between CVD and incidence of advanced AMD (OR: 2.29; 95% CI 0.81–6.44). The OR for the risk allele of the LOC387715 gene, the CFH gene and the HTRA1 gene were 2.21 (95% CI: 1.47–3.35), 2.27 (95% CI: 1.52–3.37), and 2.76 (95% CI: 1.89–4.03), respectively. In the stepwise multiple linear regression analyses, the HTRA1 and CFH risk alleles, family history of AMD, the LOC387715 risk allele, and CVD were associated with an increased risk of AMD for a total of 25.6% contribution to the AMD phenotype. Conclusions The analysis correlating environmental and genetic risk factors such as family history of AMD, and CVD and the variants of HTRA1, CFH, and LOC387715 genes showed an expressive contribution for the development of AMD among this admixed population.

AAV-Based Strategies for Treatment of Retinal and Choroidal Vascular Diseases: Advances in Age-Related Macular Degeneration and Diabetic Retinopathy Therapies

“…AMD is a multifactorial disease characterised by the development and accumulation of extracellular deposits (drusen) in the subretinal space, progressive degeneration of the RPE, photoreceptors and adjacent tissues, with resultant central vision loss [ 30 , 31 ]. Several risk factors have been associated with AMD, including ageing, genetic susceptibility, and environmental risks, such as diet, hypertension, hyperlipidaemia, obesity, and smoking [ 30 , 32 ]. AMD can be classified into two forms—dry AMD and wet AMD (wAMD).…”