Fang-Yu Chang MD, Chu-Hsuan Huang MD, Chang-Hao Yang MD, PhD, Jung-Tzu Chang MD, Chung-May Yang MD, PhD, Tzzy-Chang Ho MD, Yi-Ting Hsieh MD, PhD, Tso-Ting Lai MD, Chao-Wen Lin MD, Chang-Pin Lin MD, Yi-Chieh Chen MD, Ying-Ju Lai MS, Pei-Lung Chen MD, PhD, Jacob Shujui Hsu PhD, Ta-Ching Chen MD, PhD
{"title":"新生血管性老年性黄斑变性易感性和抗血管内皮生长因子玻璃体内注射治疗反应的遗传学：病例系列研究。","authors":"Fang-Yu Chang MD, Chu-Hsuan Huang MD, Chang-Hao Yang MD, PhD, Jung-Tzu Chang MD, Chung-May Yang MD, PhD, Tzzy-Chang Ho MD, Yi-Ting Hsieh MD, PhD, Tso-Ting Lai MD, Chao-Wen Lin MD, Chang-Pin Lin MD, Yi-Chieh Chen MD, Ying-Ju Lai MS, Pei-Lung Chen MD, PhD, Jacob Shujui Hsu PhD, Ta-Ching Chen MD, PhD","doi":"10.1111/ceo.14388","DOIUrl":null,"url":null,"abstract":"<div>\n \n \n <section>\n \n <h3> Background</h3>\n \n <p>To identify genotypes associated with neovascular age-related macular degeneration (nAMD) and investigate the associations between genotype variations and anti-vascular endothelial growth factor (VEGF) treatment response.</p>\n </section>\n \n <section>\n \n <h3> Methods</h3>\n \n <p>This observational, retrospective, case series study enrolled patients diagnosed with nAMD who received anti-VEGF treatment in National Taiwan University Hospital with at least one-year follow-up between 2012 and 2020. A genome-wide association study (GWAS) was conducted on enrolled patients and controls. Correlations between the genotypes identified from GWAS and the treatment response of functional/anatomical biomarkers, including visual acuity (VA), presence of intraretinal or subretinal fluid (SRF), serous or fibrovascular pigmented epithelium detachment (PED), and disruption of the ellipsoid zone (EZ), were analysed.</p>\n </section>\n \n <section>\n \n <h3> Results</h3>\n \n <p>In total, 182 patients with nAMD and 1748 controls were enrolled. GWAS revealed 16 single nucleotide polymorphisms (SNPs) as risk loci for nAMD, including seven loci in <i>CFH</i> and <i>ARMS2/HTRA1</i> and nine novel loci, including rs117517872 and rs79835234(<i>COPB2-DT</i>), rs7525578(<i>RAP1A</i>), rs2123738(<i>LOC105376755</i>), rs1374879(<i>CNTN3</i>), rs3812692(<i>SAR1A</i>), rs117501587(<i>PRKCA</i>), rs9965945(<i>CNDP1</i>), and rs189769231(<i>MATK</i>). Our study revealed rs800292(<i>CFH</i>), rs11200638(<i>HTRA1</i>), and rs2123738(<i>LOC105376755</i>) correlated with poor treatment response in VA (<i>P</i> = 0.005), SRF (<i>P</i> = 0.044), and fibrovascular PED (<i>P</i> = 0.007), respectively. Rs9965945(<i>CNDP1</i>) was correlated with poor response in disruption of EZ (<i>P</i> = 0.046) and serous PED (<i>P</i> = 0.049).</p>\n </section>\n \n <section>\n \n <h3> Conclusions</h3>\n \n <p>Among the 16 SNPs found in the GWAS, four loci—<i>CFH</i>, <i>ARMS2/HTRA1</i>, and two novel loci—were correlated with the susceptibility of nAMD and anatomical/functional responses after anti-VEGF treatment.</p>\n </section>\n </div>","PeriodicalId":55253,"journal":{"name":"Clinical and Experimental Ophthalmology","volume":"52 6","pages":"655-664"},"PeriodicalIF":4.9000,"publicationDate":"2024-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Genetics in neovascular age-related macular degeneration susceptibility and treatment response to anti-VEGF intravitreal injection: A case series study\",\"authors\":\"Fang-Yu Chang MD, Chu-Hsuan Huang MD, Chang-Hao Yang MD, PhD, Jung-Tzu Chang MD, Chung-May Yang MD, PhD, Tzzy-Chang Ho MD, Yi-Ting Hsieh MD, PhD, Tso-Ting Lai MD, Chao-Wen Lin MD, Chang-Pin Lin MD, Yi-Chieh Chen MD, Ying-Ju Lai MS, Pei-Lung Chen MD, PhD, Jacob Shujui Hsu PhD, Ta-Ching Chen MD, PhD\",\"doi\":\"10.1111/ceo.14388\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div>\\n \\n \\n <section>\\n \\n <h3> Background</h3>\\n \\n <p>To identify genotypes associated with neovascular age-related macular degeneration (nAMD) and investigate the associations between genotype variations and anti-vascular endothelial growth factor (VEGF) treatment response.</p>\\n </section>\\n \\n <section>\\n \\n <h3> Methods</h3>\\n \\n <p>This observational, retrospective, case series study enrolled patients diagnosed with nAMD who received anti-VEGF treatment in National Taiwan University Hospital with at least one-year follow-up between 2012 and 2020. A genome-wide association study (GWAS) was conducted on enrolled patients and controls. Correlations between the genotypes identified from GWAS and the treatment response of functional/anatomical biomarkers, including visual acuity (VA), presence of intraretinal or subretinal fluid (SRF), serous or fibrovascular pigmented epithelium detachment (PED), and disruption of the ellipsoid zone (EZ), were analysed.</p>\\n </section>\\n \\n <section>\\n \\n <h3> Results</h3>\\n \\n <p>In total, 182 patients with nAMD and 1748 controls were enrolled. GWAS revealed 16 single nucleotide polymorphisms (SNPs) as risk loci for nAMD, including seven loci in <i>CFH</i> and <i>ARMS2/HTRA1</i> and nine novel loci, including rs117517872 and rs79835234(<i>COPB2-DT</i>), rs7525578(<i>RAP1A</i>), rs2123738(<i>LOC105376755</i>), rs1374879(<i>CNTN3</i>), rs3812692(<i>SAR1A</i>), rs117501587(<i>PRKCA</i>), rs9965945(<i>CNDP1</i>), and rs189769231(<i>MATK</i>). Our study revealed rs800292(<i>CFH</i>), rs11200638(<i>HTRA1</i>), and rs2123738(<i>LOC105376755</i>) correlated with poor treatment response in VA (<i>P</i> = 0.005), SRF (<i>P</i> = 0.044), and fibrovascular PED (<i>P</i> = 0.007), respectively. Rs9965945(<i>CNDP1</i>) was correlated with poor response in disruption of EZ (<i>P</i> = 0.046) and serous PED (<i>P</i> = 0.049).</p>\\n </section>\\n \\n <section>\\n \\n <h3> Conclusions</h3>\\n \\n <p>Among the 16 SNPs found in the GWAS, four loci—<i>CFH</i>, <i>ARMS2/HTRA1</i>, and two novel loci—were correlated with the susceptibility of nAMD and anatomical/functional responses after anti-VEGF treatment.</p>\\n </section>\\n </div>\",\"PeriodicalId\":55253,\"journal\":{\"name\":\"Clinical and Experimental Ophthalmology\",\"volume\":\"52 6\",\"pages\":\"655-664\"},\"PeriodicalIF\":4.9000,\"publicationDate\":\"2024-05-16\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Clinical and Experimental Ophthalmology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://onlinelibrary.wiley.com/doi/10.1111/ceo.14388\",\"RegionNum\":2,\"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":"Clinical and Experimental Ophthalmology","FirstCategoryId":"3","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1111/ceo.14388","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"OPHTHALMOLOGY","Score":null,"Total":0}
Genetics in neovascular age-related macular degeneration susceptibility and treatment response to anti-VEGF intravitreal injection: A case series study
Background
To identify genotypes associated with neovascular age-related macular degeneration (nAMD) and investigate the associations between genotype variations and anti-vascular endothelial growth factor (VEGF) treatment response.
Methods
This observational, retrospective, case series study enrolled patients diagnosed with nAMD who received anti-VEGF treatment in National Taiwan University Hospital with at least one-year follow-up between 2012 and 2020. A genome-wide association study (GWAS) was conducted on enrolled patients and controls. Correlations between the genotypes identified from GWAS and the treatment response of functional/anatomical biomarkers, including visual acuity (VA), presence of intraretinal or subretinal fluid (SRF), serous or fibrovascular pigmented epithelium detachment (PED), and disruption of the ellipsoid zone (EZ), were analysed.
Results
In total, 182 patients with nAMD and 1748 controls were enrolled. GWAS revealed 16 single nucleotide polymorphisms (SNPs) as risk loci for nAMD, including seven loci in CFH and ARMS2/HTRA1 and nine novel loci, including rs117517872 and rs79835234(COPB2-DT), rs7525578(RAP1A), rs2123738(LOC105376755), rs1374879(CNTN3), rs3812692(SAR1A), rs117501587(PRKCA), rs9965945(CNDP1), and rs189769231(MATK). Our study revealed rs800292(CFH), rs11200638(HTRA1), and rs2123738(LOC105376755) correlated with poor treatment response in VA (P = 0.005), SRF (P = 0.044), and fibrovascular PED (P = 0.007), respectively. Rs9965945(CNDP1) was correlated with poor response in disruption of EZ (P = 0.046) and serous PED (P = 0.049).
Conclusions
Among the 16 SNPs found in the GWAS, four loci—CFH, ARMS2/HTRA1, and two novel loci—were correlated with the susceptibility of nAMD and anatomical/functional responses after anti-VEGF treatment.
期刊介绍：
Clinical & Experimental Ophthalmology is the official journal of The Royal Australian and New Zealand College of Ophthalmologists. The journal publishes peer-reviewed original research and reviews dealing with all aspects of clinical practice and research which are international in scope and application. CEO recognises the importance of collaborative research and welcomes papers that have a direct influence on ophthalmic practice but are not unique to ophthalmology.
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