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

Autor(es):Mostrar menos -

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]

Afiliação do(s) autor(es)

^[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

• Tipo de documento: Artigo Científico
• Fonte: Experimental Biology and Medicine; v. 246, n. 21 JUL 2021.
• Citações Web of Science: 0

Resumo

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)

• Processo FAPESP: 10/18353-9 - Citocinas inflamatórias e associação com o tratamento e etiologia do glaucoma primário de ângulo aberto
• Beneficiário: Mônica Barbosa de Melo
• Modalidade de apoio: Auxílio à Pesquisa - Regular