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

• Published in: Experimental biology and medicine (Maywood, N.J.) Vol. 246; no. 21; pp. 2290 - 2296
• Main Authors: Neto, Jamil M, Viturino, Marina GM, Ananina, Galina, Bajano, Flávia F, Costa, Sueli M da S, Roque, Alicia B, Borges, Gessica FS, Franchi, Raissa, Rim, Priscila HH, Medina, Flávio M, Costa, Fernando F, Melo, Mônica B de, de Vasconcellos, José PC
• Format: Journal Article
• Language: English
• Published: London, England SAGE Publications 01.11.2021
• Subjects: Aged; Aged, 80 and over; Brazil; Case-Control Studies; Complement C3 - genetics; Complement Factor B - genetics; Complement Factor H - genetics; Female; Gene Frequency - genetics; Genetic Predisposition to Disease - genetics; Genotyping Techniques; Humans; Macular Degeneration - genetics; Male; Middle Aged; Original Research; Polymerase Chain Reaction; Polymorphism, Single Nucleotide - genetics; Brazil; rs641153; Complement pathway; rs1410996; rs2230199; age-related macular degeneration; genetic risk
• ISSN: 1535-3702; 1535-3699
• DOI: 10.1177/15353702211024543

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  = 5.47e-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.