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Role of Complement Factor B Rs4151667 (L9h) Polymorphisms and Its Interactional Role With Cfh Y402h and C3 Rs2230199 (R102g) Risk Variants in Age-Related Macular Degeneration: A Case Control Study Publisher Pubmed



Roshanipour N1 ; Laleh MG2, 3 ; Bonyadi M2, 3 ; Bonyadi MHJ4 ; Soheilian M4 ; Javadzadeh A5 ; Yaseri M6
Authors
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Authors Affiliations
  1. 1. Department of Biology, Tabriz Branch, Islamic Azad University, Tabriz, Iran
  2. 2. Center of Excellence for Biodiversity, Faculty of Natural Sciences, University of Tabriz, Tabriz, Iran
  3. 3. Liver and Gastrointestinal Disease Research Center, Tabriz University of Medical Sciences, Tabriz, Iran
  4. 4. Ocular Tissue Engineering Research Center, Ophthalmic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  5. 5. Department of Ophthalmology, Tabriz University of Medical Sciences, Tabriz, Iran
  6. 6. Department of Biostatistics and Epidemiology, Tehran University of Medical Sciences, Tehran, Iran

Source: BMC Ophthalmology Published:2020


Abstract

Background: Age-related Macular Degeneration (AMD) is a complex eye disease, which is genetically associated with different susceptibility loci. We planned to investigate the possible association of Complement Factor B (CFB) rs4151667 (L9H) variants and their possible interaction with Complement Factor H (CFH) Y402H and Complement factor 3 (C3) rs2230199 (R102G) in AMD. Methods: This case-control association study included 216 advanced type AMD patients and 191 healthy individuals for evaluation. Extracted-DNA samples were genotyped for the polymorphic regions of CFB rs4151667 (L9H), CFH Y402H and C3 rs2230199 (R102G). Results: The distribution of CFB rs4151667 (L9H) genotypes was not significantly different in the AMD patients compared to that of controls (P = 0.18). The AT genotype frequencies for CFB was non significantly lower in AMD group (6.5% vs. 13.1%, AOR = 0.49, CI = 0.23-1.04, P = 0.064(. The A allele of CFB rs4151667 (L9H) was found to be non-significantly lower in AMD patients. CFB rs4151667 (L9H) had no protective interactional effect against CFH (Y402H) and C3 (R102G) risk variants. Conclusions: This study showed that the protective role of CFB rs4151667 (L9H) in AMD is not significant and it has no significant protective interactional effect against CFH (Y402H) and C3 (R102G) risk variants. © 2020 The Author(s).
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