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Title: Discovery of Novel Genetic Risk Loci for Acute Central Serous Chorioretinopathy and Genetic Pleiotropic Effect With Age-Related Macular Degeneration
Authors: Feng, Lei
Chen, Si
Dai, Huatuo
Dorajoo, Rajkumar
Liu, Jianjun 
Kong, Jinfeng
Yin, Xianyong
Ren, Yunqing
Keywords: age-related macular degeneration
central serous chorioretinopathy
pleiotropic effect
risk loci
Issue Date: 20-Aug-2021
Publisher: Frontiers Media S.A.
Citation: Feng, Lei, Chen, Si, Dai, Huatuo, Dorajoo, Rajkumar, Liu, Jianjun, Kong, Jinfeng, Yin, Xianyong, Ren, Yunqing (2021-08-20). Discovery of Novel Genetic Risk Loci for Acute Central Serous Chorioretinopathy and Genetic Pleiotropic Effect With Age-Related Macular Degeneration. Frontiers in Cell and Developmental Biology 9 : 696885. ScholarBank@NUS Repository.
Rights: Attribution 4.0 International
Abstract: Background: Central serous chorioretinopathy (CSC) is a severe and heterogeneous chorioretinal disorder. Shared clinical manifestations between CSC and age-related macular degeneration (AMD) and the confirmation of CFH as genetic risk locus for both CSC and AMD suggest possible common pathophysiologic mechanisms between two diseases. Methods: To advance the understanding of genetic susceptibility of CSC and further investigate genetic pleiotropy between CSC and AMD, we performed genetic association analysis of 38 AMD-associated single nucleotide polymorphisms (SNPs) in a Chinese CSC cohort, consisting of 464 patients and 548 matched healthy controls. Results: Twelve SNPs were found to be associated with CSC at nominal significance (p < 0.05), and four SNPs on chromosomes 1, 4, and 15 showed strong associations whose evidences surpassed Bonferroni (BF)-corrected significance [rs1410996, odds ratios (OR) = 1.47, p = 2.37 × 10–5; rs1329428, OR = 1.40, p = 3.32 × 10–4; rs4698775, OR = 1.45, p = 2.20 × 10–4; and rs2043085, OR = 1.44, p = 1.91 × 10–4]. While the genetic risk effects of rs1410996 and rs1329428 (within the well-established locus CFH) are correlated (due to high LD), rs4698775 on chromosome 4 and rs2043085 on chromosome 15 are novel risk loci for CSC. Polygenetic risk score (PRS) constructed by using three independent SNPs (rs1410996, rs4698775, and rs2043085) showed highly significant association with CSC (p = 2.10 × 10–7), with the top 10% of subjects with high PRS showing 6.39 times higher risk than the bottom 10% of subjects with lowest PRS. Three SNPs were also found to be associated with clinic manifestations of CSC patients. In addition, by comparing the genetic effects (ORs) of these 38 SNPs between CSC and AMD, our study revealed significant, but complex genetic pleiotropic effect between the two diseases. Conclusion: By discovering two novel genetic risk loci and revealing significant genetic pleiotropic effect between CSC and AMD, the current study has provided novel insights into the role of genetic composition in the pathogenesis of CSC. © Copyright © 2021 Feng, Chen, Dai, Dorajoo, Liu, Kong, Yin and Ren.
Source Title: Frontiers in Cell and Developmental Biology
ISSN: 2296-634X
DOI: 10.3389/fcell.2021.696885
Rights: Attribution 4.0 International
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