Genetic Association Study of Central Serous Chorioretinopathy with Age-related Macular Degeneration according to the Features of Pigment Epithelial Detachment ; 색소상피박리 양상에 따른 중심장액맥락망막병의 나이관련황반변성과의 유전학적 연관성분석

학위논문 (박사) -- 서울대학교 대학원 : 의과대학 의학과, 2021. 2. 박규형. ; Purpose: To analyze genetic association between patients with central serous chorioretinopathy (CSC) and those with typical neovascular age-related macular degeneration (tnAMD) or polypoidal choroidal vasculopathy (PCV) according to the features of pigment epithelial detachment (PED). Methods: For CSC patients, a flat, non-dome-shaped protrusion of retinal pigment epithelium (RPE) with at least partially hyper-reflective sub-RPE fluid on optical coherence tomography (OCT) was defined as an irregular PED. CSC without irregular PED included cases with regular PED, flat PED with hypo-reflective sub-retinal pigment epithelium (RPE) fluid, or with indeterminate optical density, RPE bump, and only sub-retinal fluid (SRF). Participants were classified into 6 subgroups; 1) total CSC (n=280) 2) CSC with irregular PED (n=126) 3) CSC without irregular PED (n=154) 4) typical neovascular age-related macular degeneration (tnAMD) (n=203) 5) polypoidal choroidal vasculopathy (PCV) (n=135) and 6) control (n=499). Ten known major AMD-associated single-nucleotide polymorphisms (SNPs) were analyzed. Genotype difference were compared between CSC subgroups. Logistic regression analysis was performed to reveal the age, sex adjusted association between each pair of subgroups. Individual tests for 10 SNPs were considered significant at P < 0.005 (Bonferroni correction). Results: Rs800292 in CFH showed significant different genotype distribution between CSC with and without irregular PED (P=3.31*10-5). Association analysis between CSC with irregular PED and tnAMD revealed no SNP showing significant difference. Between CSC with irregular PED and PCV, only 1 SNP (rs10490924 in ARMS2-HTRA1) was significantly different (P=4.17*10-3). In contrast, association analysis between CSC without irregular PED and tnAMD revealed that significant difference for rs10490924 (P=1.45*10-3), and marginally significant difference for rs800292 in CFH. Between CSC without irregular PED and PCV, rs10490924, ...