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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

Association of genetic variants rs641153 (CFB), rs2230199 (C3), and rs1410996 (CFH) with age-related macular degeneration in a Brazilian population

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Neto, Jamil M. [1] ; Viturino, Marina G. M. [1] ; Ananina, Galina [2] ; Bajano, Flavia F. [2] ; Costa, Sueli M. da S. [2] ; Roque, Alicia B. [1] ; Borges, Gessica F. S. [1] ; Franchi, Raissa [2] ; Rim, Priscila H. H. [1] ; Medina, Flavio M. [3] ; Costa, Fernando F. [4] ; de Melo, Monica B. [2] ; de Vasconcellos, Jose P. C. [1]
Total Authors: 13
Affiliation:
[1] Univ Estadual Campinas, Dept Ophthalmol, Fac Med Sci, BR-13083887 Campinas, SP - Brazil
[2] Univ Estadual Campinas, Ctr Mol Biol & Genet Engn CBMEG, Lab Human Genet, BR-13083875 Campinas, SP - Brazil
[3] Univ Estado Rio De Janeiro, Fac Med Sci, Dept Ophthalmol, BR-20551030 Rio De Janeiro, RJ - Brazil
[4] Univ Estadual Campinas, Hematol & Hemotherapy Ctr, BR-13083878 Campinas, SP - Brazil
Total Affiliations: 4
Document type: Journal article
Source: Experimental Biology and Medicine; v. 246, n. 21 JUL 2021.
Web of Science Citations: 0
Abstract

This study aimed to investigate the association among genetic variants of the complement pathway CFB R32Q (rs641153), C3 R102G (rs2230199), and CFH (rs1410996) with age-related macular degeneration (AMD) in a sample of the Brazilian population. In a case-control study, 484 AMD patients were classified according to the clinical age-related maculopathy grading system (CARMS) and compared to 479 unrelated controls. The genetic variants rs1410996 of complement H (CFH), rs641153 of complement factor B (CFB), and rs2230199 of complement 3 (C3) were evaluated through polymerase chain reaction (PCR) and direct sequencing. The associations between single nucleotide polymorphisms (SNPs) and AMD, adjusted by age, were assessed by using logistic regression models. A statistically significant association was observed between AMD risk and rs2230199 variant with an OR of 2.01 (P = 0.0002) for CG individuals compared to CC individuals. Regarding the comparison of advanced AMD versus the control group, the OR was 2.12 (P = 0.0036) for GG versus AA genotypes for rs1410996 variant. Similarly, the OR for rs2230199 polymorphism was 2.3034 (P = 5.47(e-05)) when comparing CG individuals to CC carriers. In contrast, the rs641153 variant showed a significant protective effect against advanced AMD for GA versus GG genotype (OR = 0.4406; P = 0.0019). When comparing wet AMD versus controls, a significant association was detected for rs1410996 variant (OR = 2.16; P = 0.0039) comparing carriers of the homozygous GG versus AA genotype, as well as in the comparisons of GG (OR = 3.0713; P = 0.0046) and CG genotypes (OR = 2.2249; P = 0.0002) versus CC genotype for rs2230199 variant, respectively. The rs641153 variant granted a significant protective effect against wet AMD for GA versus GG genotypes (OR = 0.4601; P = 0.0044). Our study confirmed the risk association between rs2230199 and rs1410996 variants and AMD, and the protective role against AMD for rs641153 variant. (AU)

FAPESP's process: 10/18353-9 - Inflammatory cytokines and their association with treatment and etiology of primary open angle glaucoma
Grantee:Mônica Barbosa de Melo
Support Opportunities: Regular Research Grants