{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T19:38:54Z","timestamp":1786649934320,"version":"build-2736575974"},"reference-count":45,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","license":[{"start":{"date-parts":[[2026,1,24]],"date-time":"2026-01-24T00:00:00Z","timestamp":1769212800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2026,2]]},"abstract":"\n Purpose:<\/jats:title>\n \n Age-related macular degeneration (AMD) is a leading cause of irreversible vision loss in the elderly. This study investigated the association of single-nucleotide polymorphisms (SNPs) in\n ARMS2, HTRA1<\/jats:italic>\n , and\n CFH<\/jats:italic>\n with AMD and its clinical phenotypes and systemic cytokine profiles in a North Indian population.\n <\/jats:p>\n <\/jats:sec>\n \n Method:<\/jats:title>\n \n A total of 113 AMD patients and 99 controls were genotyped using TaqMan assays. All patients underwent detailed ophthalmic evaluations, including optical coherence tomography (OCT), fundus photography, and angiography-based imaging. Serum cytokine levels were quantified using bead-based multiplex immunoassay and analyzed via flow cytometry. Statistical analyses were performed using SPSS v23.0, employing\n t<\/jats:italic>\n -tests, ANOVA, and Mann-Whitney U tests.\n <\/jats:p>\n <\/jats:sec>\n \n Results:<\/jats:title>\n \n Significant associations were observed between AMD and control for risk alleles in\n ARMS2 (<\/jats:italic>\n 36.3% vs 10.1%,\n P<\/jats:italic>\n = 0.001),\n HTRA1 (<\/jats:italic>\n 37.2% vs 33.3%,\n P<\/jats:italic>\n = 0.003), and CFH (27.4% vs 13.1%,\n P<\/jats:italic>\n = 0.001). Genotype\u2013phenotype correlations revealed that heterozygous and homozygous risk genotypes were significantly associated with hallmark AMD features such as pigment epithelial detachment (PED), choroidal neovascular membrane (CNVM), large drusen, and retinal pigment epithelium (RPE) atrophy. Cytokine profiling showed significantly reduced levels of erythropoietin (EPO) in AMD patients and granulocyte colony-stimulating factor (G-CSF) in controls (\n P<\/jats:italic>\n = 0.044 and\n P<\/jats:italic>\n = 0.023).\n <\/jats:p>\n <\/jats:sec>\n \n Conclusion:<\/jats:title>\n \n This study establishes novel genotype\u2013phenotype correlations for\n ARMS2<\/jats:italic>\n ,\n HTRA1<\/jats:italic>\n , and\n CFH<\/jats:italic>\n SNPs in a North Indian cohort, linking heterozygous\/homozygous risk alleles to distinct AMD clinical features. Reduced EPO and G-CSF levels suggest impaired neuroprotective\/anti-inflammatory mechanisms, revealing dual pathways in AMD pathogenesis. By integrating these findings with global data, future efforts can deepen our understanding of AMD\u2019s complex etiology and improve patient outcomes worldwide.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.4103\/ijo.ijo_1395_25","type":"journal-article","created":{"date-parts":[[2026,1,25]],"date-time":"2026-01-25T13:00:25Z","timestamp":1769346025000},"page":"279-285","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["Impact of age-related maculopathy susceptibility 2, high-temperature requirement A serine peptidase 1, and complement factor H genetic variants on clinical phenotypes of age-related macular degeneration"],"prefix":"10.4103","volume":"74","author":[{"given":"Divya","family":"Ranga","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, Advanced Eye Centre, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simarpreet","family":"Kaur","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Advanced Eye Centre, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India"},{"name":"Department of Microbiology and Infectious Diseases, University of Calgary, Alberta, QC, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nayudu","family":"Nallabelli","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Advanced Eye Centre, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India"},{"name":"Faculty of Medicine, Department of Molecular Medicine, Laval University, Quebec, QC, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Surya Prakash","family":"Sharma","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Advanced Eye Centre, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Basavaraj","family":"Tigari","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Advanced Eye Centre, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohit","family":"Dogra","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Advanced Eye Centre, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deeksha","family":"Katoch","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Advanced Eye Centre, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suresh K","family":"Sharma","sequence":"additional","affiliation":[{"name":"Department of Statistics, Panjab University, Chandigarh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ramandeep","family":"Singh","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Advanced Eye Centre, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nirbhai","family":"Singh","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Advanced Eye Centre, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2026,1,24]]},"reference":[{"key":"R1-20260420","doi-asserted-by":"crossref","first-page":"e106","DOI":"10.1016\/S2214-109X(13)70145-1","article-title":"Global prevalence of age-related macular degeneration and disease burden projection for 2020 and 2040: A systematic review and meta-analysis","volume":"2","author":"Wong","year":"2014","journal-title":"Lancet Glob Health"},{"key":"R2-20260420","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1001\/archopht.123.3.321","article-title":"The US twin study of age-related macular degeneration: relative roles of genetic and environmental influences","volume":"123","author":"Seddon","year":"2005","journal-title":"Arch Ophthalmol"},{"key":"R3-20260420","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1016\/S0197-2456(99)00031-8","article-title":"The age-related eye disease study (AREDS): Design implications. 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