Zhen Ji Chen , Danny S. Ng , Mary Ho , Shi Yao Lu , Pancy O.S. Tam , Alvin L. Young , Marten E. Brelen , Jason C. Yam , Clement C. Tham , Chi Pui Pang , Li Jia Chen
{"title":"中心性浆液性脉络膜视网膜病变亚型、新生血管性老年黄斑变性和多形性脉络膜血管病的遗传关联","authors":"Zhen Ji Chen , Danny S. Ng , Mary Ho , Shi Yao Lu , Pancy O.S. Tam , Alvin L. Young , Marten E. Brelen , Jason C. Yam , Clement C. Tham , Chi Pui Pang , Li Jia Chen","doi":"10.1016/j.apjo.2023.100003","DOIUrl":null,"url":null,"abstract":"<div><h3>Purpose</h3><p>To evaluate the genetic associations of different subtypes of central serous chorioretinopathy (CSCR), neovascular age-related macular degeneration (nAMD), and polypoidal choroidal vasculopathy (PCV).</p></div><div><h3>Design</h3><p>A case-control genetic association study.</p></div><div><h3>Methods</h3><p>This study enrolled 217 CSCR, 341 nAMD, 288 PCV patients, and 1380 controls. The CSCR patients were classified into those with focal or diffuse leakage, with or without pigment epithelial detachment (PED), and with or without macular neovascularization (MNV). Associations between 11 variants from 8 genes, <em>ADAMTS9</em>, <em>ANGPT2</em>, <em>ARMS2</em>, <em>CFH</em>, <em>NR3C2</em>, <em>PGF</em>, <em>TNFRSF10A</em> and <em>VIPR2</em>, and diseases/subtypes were analyzed by logistic regression analysis adjusted for age and sex, and inter-phenotype comparison by heterogeneity test.</p></div><div><h3>Results</h3><p>The <em>CFH</em> rs800292-A conferred a protective effect for CSCR with MNV (OR=0.44, <em>P</em> = 0.002) and a risk effect for CSCR without MNV (OR=1.31, <em>P</em> = 0.023). CSCR patients carrying rs800292-G had a 3.23-fold of increased risk towards developing secondary MNV (<em>P</em> = 1.45 ×10<sup>-4</sup>). <em>CFH</em> rs3753394, rs800292 and rs1329428 showed similar effects among CSCR with MNV, nAMD and PCV, but opposite effects on CSCR without MNV. <em>TNFRSF10A</em> rs13278062-T was associated with overall CSCR but not with CSCR subtypes, nAMD or PCV. Moreover, <em>CFH</em> and <em>ARMS2</em> SNPs showed heterogeneous effects in CSCR without MNV against CSCR with MNV, nAMD and PCV.</p></div><div><h3>Conclusions</h3><p>Genetic associations of CSCR with MNV resembled nAMD and PCV compared to CSCR without MNV, indicating differential genetic effects on neovascularization and choroidopathy. Further investigation of the functional roles of <em>CFH, ARMS2,</em> and <em>TNFRSF10A</em> in CSCR, nAMD and PCV should help elucidate the mechanisms of these maculopathies.</p></div>","PeriodicalId":8594,"journal":{"name":"Asia-Pacific Journal of Ophthalmology","volume":"13 1","pages":"Article 100003"},"PeriodicalIF":3.7000,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2162098923000038/pdfft?md5=e4f3cb82f59b58007c5c6fba34daf66b&pid=1-s2.0-S2162098923000038-main.pdf","citationCount":"0","resultStr":"{\"title\":\"Genetic associations of central serous chorioretinopathy subtypes, neovascular age-related macular degeneration, and polypoidal choroidal vasculopathy\",\"authors\":\"Zhen Ji Chen , Danny S. Ng , Mary Ho , Shi Yao Lu , Pancy O.S. Tam , Alvin L. Young , Marten E. Brelen , Jason C. Yam , Clement C. Tham , Chi Pui Pang , Li Jia Chen\",\"doi\":\"10.1016/j.apjo.2023.100003\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><h3>Purpose</h3><p>To evaluate the genetic associations of different subtypes of central serous chorioretinopathy (CSCR), neovascular age-related macular degeneration (nAMD), and polypoidal choroidal vasculopathy (PCV).</p></div><div><h3>Design</h3><p>A case-control genetic association study.</p></div><div><h3>Methods</h3><p>This study enrolled 217 CSCR, 341 nAMD, 288 PCV patients, and 1380 controls. The CSCR patients were classified into those with focal or diffuse leakage, with or without pigment epithelial detachment (PED), and with or without macular neovascularization (MNV). Associations between 11 variants from 8 genes, <em>ADAMTS9</em>, <em>ANGPT2</em>, <em>ARMS2</em>, <em>CFH</em>, <em>NR3C2</em>, <em>PGF</em>, <em>TNFRSF10A</em> and <em>VIPR2</em>, and diseases/subtypes were analyzed by logistic regression analysis adjusted for age and sex, and inter-phenotype comparison by heterogeneity test.</p></div><div><h3>Results</h3><p>The <em>CFH</em> rs800292-A conferred a protective effect for CSCR with MNV (OR=0.44, <em>P</em> = 0.002) and a risk effect for CSCR without MNV (OR=1.31, <em>P</em> = 0.023). CSCR patients carrying rs800292-G had a 3.23-fold of increased risk towards developing secondary MNV (<em>P</em> = 1.45 ×10<sup>-4</sup>). <em>CFH</em> rs3753394, rs800292 and rs1329428 showed similar effects among CSCR with MNV, nAMD and PCV, but opposite effects on CSCR without MNV. <em>TNFRSF10A</em> rs13278062-T was associated with overall CSCR but not with CSCR subtypes, nAMD or PCV. Moreover, <em>CFH</em> and <em>ARMS2</em> SNPs showed heterogeneous effects in CSCR without MNV against CSCR with MNV, nAMD and PCV.</p></div><div><h3>Conclusions</h3><p>Genetic associations of CSCR with MNV resembled nAMD and PCV compared to CSCR without MNV, indicating differential genetic effects on neovascularization and choroidopathy. Further investigation of the functional roles of <em>CFH, ARMS2,</em> and <em>TNFRSF10A</em> in CSCR, nAMD and PCV should help elucidate the mechanisms of these maculopathies.</p></div>\",\"PeriodicalId\":8594,\"journal\":{\"name\":\"Asia-Pacific Journal of Ophthalmology\",\"volume\":\"13 1\",\"pages\":\"Article 100003\"},\"PeriodicalIF\":3.7000,\"publicationDate\":\"2024-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.sciencedirect.com/science/article/pii/S2162098923000038/pdfft?md5=e4f3cb82f59b58007c5c6fba34daf66b&pid=1-s2.0-S2162098923000038-main.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Asia-Pacific Journal of Ophthalmology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S2162098923000038\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"OPHTHALMOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Asia-Pacific Journal of Ophthalmology","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2162098923000038","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"OPHTHALMOLOGY","Score":null,"Total":0}
Genetic associations of central serous chorioretinopathy subtypes, neovascular age-related macular degeneration, and polypoidal choroidal vasculopathy
Purpose
To evaluate the genetic associations of different subtypes of central serous chorioretinopathy (CSCR), neovascular age-related macular degeneration (nAMD), and polypoidal choroidal vasculopathy (PCV).
Design
A case-control genetic association study.
Methods
This study enrolled 217 CSCR, 341 nAMD, 288 PCV patients, and 1380 controls. The CSCR patients were classified into those with focal or diffuse leakage, with or without pigment epithelial detachment (PED), and with or without macular neovascularization (MNV). Associations between 11 variants from 8 genes, ADAMTS9, ANGPT2, ARMS2, CFH, NR3C2, PGF, TNFRSF10A and VIPR2, and diseases/subtypes were analyzed by logistic regression analysis adjusted for age and sex, and inter-phenotype comparison by heterogeneity test.
Results
The CFH rs800292-A conferred a protective effect for CSCR with MNV (OR=0.44, P = 0.002) and a risk effect for CSCR without MNV (OR=1.31, P = 0.023). CSCR patients carrying rs800292-G had a 3.23-fold of increased risk towards developing secondary MNV (P = 1.45 ×10-4). CFH rs3753394, rs800292 and rs1329428 showed similar effects among CSCR with MNV, nAMD and PCV, but opposite effects on CSCR without MNV. TNFRSF10A rs13278062-T was associated with overall CSCR but not with CSCR subtypes, nAMD or PCV. Moreover, CFH and ARMS2 SNPs showed heterogeneous effects in CSCR without MNV against CSCR with MNV, nAMD and PCV.
Conclusions
Genetic associations of CSCR with MNV resembled nAMD and PCV compared to CSCR without MNV, indicating differential genetic effects on neovascularization and choroidopathy. Further investigation of the functional roles of CFH, ARMS2, and TNFRSF10A in CSCR, nAMD and PCV should help elucidate the mechanisms of these maculopathies.
期刊介绍：
The Asia-Pacific Journal of Ophthalmology, a bimonthly, peer-reviewed online scientific publication, is an official publication of the Asia-Pacific Academy of Ophthalmology (APAO), a supranational organization which is committed to research, training, learning, publication and knowledge and skill transfers in ophthalmology and visual sciences. The Asia-Pacific Journal of Ophthalmology welcomes review articles on currently hot topics, original, previously unpublished manuscripts describing clinical investigations, clinical observations and clinically relevant laboratory investigations, as well as .perspectives containing personal viewpoints on topics with broad interests. Editorials are published by invitation only. Case reports are generally not considered. The Asia-Pacific Journal of Ophthalmology covers 16 subspecialties and is freely circulated among individual members of the APAO’s member societies, which amounts to a potential readership of over 50,000.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
