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Yuhong Chen, Jiexi Zeng, Chao Zhao, Kevin Wang, Elizabeth Trood, Jeanette Buehler, Matthew Weed, Daniel Kasuga, Paul Bernstein, Kang Zhang; Assessing Susceptibility to Age-Related Macular Degeneration with Genetic Markers and Environmental Factors. Invest. Ophthalmol. Vis. Sci. 2011;52(14):5228.
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© ARVO (1962-2015); The Authors (2016-present)
To evaluate the independent and joint effects of genetic factors and environmental variables on advanced forms of age related macular degeneration (AMD) including geographic atrophy (GA) and choroidal neovascularization (CNV), and to develop a predictive model with both genetic and environmental factors included.
Demographic information, including age of onset, smoking status and body mass index (BMI), was collected in 1844 participants. Genotypes were evaluated for eight variants in five genes related to AMD. Unconditional logistic regression analyses were performed to generate a risk predictive model.
All genetic variants showed strong association with AMD. Multivariate odds ratios (ORs) were 3.52 (95% CI: 2.08-5.94) for CFH rs1061170 CC, 4.21 (95% CI: 2.30-7.70) for CFH rs2274700 CC, 0.46 (95% CI:0.27-0.80) for C2 rs9332739 CC/CG, 0.44 (95% CI: 0.30-0.66) for CFB rs641153 TT/CT, 10.99 (95% CI: 6.04-19.97) for HTRA1/LOC387715 rs10490924 TT and 2.66 (95% CI: 1.43-4.96) for C3 rs2230199 GG. Smoking was independently associated with advanced AMD after controlling for age, gender, BMI and all genetic variants.
CFH confers more risk to the bilaterality of GA whereas LOC387715/HTRA1 contributes more to the bilaterality of CNV. C3 confers more risk for GA than CNV. Risk models with combined genetic and environmental factors together have notable discrimination power. Early detection and risk prediction of AMD could help to improve the prognosis of AMD and reduce the outcome of blindness. Targeting high risk individuals for surveillance and clinical interventions may help reduce disease burden.
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