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Kyu Hyung Park, Jeeyun Ahn, Se Joon Woo; Genetic Analysis Of Exudative Age-related Macular Degeneration And Polypoidal Choroidal Vasculopathy In The Korean Population. Invest. Ophthalmol. Vis. Sci. 2012;53(14):3304.
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© ARVO (1962-2015); The Authors (2016-present)
To reveal genetic risk factors of Korean age-related macular degeneration (AMD) patients and find the genotypic difference between exudative AMD (eAMD) and polypoidal choroidal vasculopathy (PCV) using the candidate gene approach.
A case-control study involving 463 AMD patients and 395 normal controls was done. Subjects were genotyped for 86 single nucleotide polymorphisms (SNPs) of 31 candidate genes. A total of 157 eAMD and 112 PCV patients were enrolled in the AMD group. Comparative analyses of the eAMD and PCV patients’ clinical, dietary and genetic data were done.
Multivariate analysis of demographic and dietary data showed age, history of smoking, hypertension and green tea and coffee consumption to be significantly associated with AMD. SNPs in the HTRA1 (rs11200638) and ARMS2 (rs10490924, rs2736911) genes showed significant association with all AMD (p=2.69E-21, p=3.18E-21, p=0.000187) and variants in the CFH (rs800292) gene were significantly associated with eAMD (p=0.00004272). Variants in the ARMS2 (rs10490924) and HTRA1 (rs11200638) genes showed significant association with early and late AMD, as well as PCV and eAMD. One SNP in the CFH gene (rs800292) was associated with eAMD. No significant genotypic differences were observed between the eAMD and PCV groups.
ARMS2/HTRA1 and CFH are the major pathogenic genes in Korean AMD and no significant differences in association with major susceptible gene loci were present in Korean eAMD and PCV patients, implying a similar genetic pathogenesis in the two disease entities.
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