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Clara Lee, Guy Hughes, Ye Wang, Maureen Crocker, Seanna Grob, Mark Nelson, Michael Goldbaum, Paul Tornambe, Yuhong Chen, Kang Zhang; Assessing Differential Genetic Effects Of Gene Variants On Choroidal Neovascularization And Geographic Atrophy. Invest. Ophthalmol. Vis. Sci. 2011;52(14):5230.
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© ARVO (1962-2015); The Authors (2016-present)
To explore differential effects of genetic variants on geographic atrophy (GA) and choroidal neovascularization (CNV) and bilaterality of advanced age-related macular degeneration (AMD).
Demographic information, including age of onset, smoking status and BMI, was collected in 994 CNV, 341 GA patients and 509 normal controls. Genotypes were evaluated for variants in five genes related to AMD. Statistical analyses were performed to generate a model.
All genetic variants showed strong association with AMD. We did not find a difference in allele frequency of the two major susceptibility genes CFH and HTRA1 in respect to GA and CNV. However, the risk allele of C3 rs2230199 was significantly higher in GA (32.4%) than in CNV (26.4%) (P = 5.99E-03) when adjusted for age and gender. CFH rs2274700 and CFH rs1410996 were enriched in bilateral GA compared to that in unilateral GA. HTRA1 rs11200638 was enriched in bilateral CNV compared to unilateral CNV.
CFH confers more risk to bilateral GA, whereas HTRA1 contributes more to bilateral CNV. C3 rs2230199 was enriched in GA compared to CNV. Our study will aid understanding and contribute to the diagnosis and prognosis of AMD in personalized medicine.
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