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- Title
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.
- Authors
Roshanipour, Nasrin; Laleh, Maryam Ghaffari; Bonyadi, Mortaza; Bonyadi, Mohammad Hossein Jabbarpoor; Soheilian, Masoud; Javadzadeh, Alireza; Yaseri, Mehdi
- Abstract
<bold>Background: </bold>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.<bold>Methods: </bold>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).<bold>Results: </bold>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.<bold>Conclusions: </bold>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.
- Subjects
RETINAL degeneration; COMPLEMENT factor H; EYE diseases; GENOTYPES; CASE studies; COMPLEMENT (Immunology); GENETIC polymorphisms; CASE-control method; GENES
- Publication
BMC Ophthalmology, 2020, Vol 20, Issue 1, p1
- ISSN
1471-2415
- Publication type
journal article
- DOI
10.1186/s12886-020-01552-4