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Monica Melo, Daniela Sacconi, Galina Ananina, Fabio Hirata, Priscila Rim, Andrea Torigoe, Marcio Silva, Jose Paulo Vasconcellos; Contribution of CFH Y402H polymorphism and CFHR3/CFHR1 deletion to age-related macular degeneration in Brazil. Invest. Ophthalmol. Vis. Sci. 2013;54(15):6175.
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Age-related macular degeneration (AMD) is the leading cause of irreversible blindness in developed countries and is considered a multifactorial disorder. Several risk factors are involved in its etiology and undoubtedly genetics plays an important role. Complement factor H (CFH) gene, involved in the regulation of the alternative pathway of the complement cascade, was the first significant gene to be related with the pathogenesis of AMD. Subsequently, other variants of complement pathway-associated genes have been studied and also implicated in the susceptibility or protection for the development of AMD, including complement factor H-related 1 and 3 (CFHR3 and CFHR1). The purpose of this study was to evaluate the role of the Y402H coding variant (rs1061170) in the CFH gene and the CFHR3/CFHR1 deletion in the etiology of AMD in a sample of Brazilian patients.
Ninety-eight unrelated AMD patients and 70 matched controls were evaluated for the rs1061170 SNP and CFHR3/CFHR1 deletion through PCR/direct sequencing and multiplex PCR, respectively. AMD patients were diagnosed according to the International ARM Epidemiological Study Group.
The C allele frequency of the rs1061170 SNP was significantly higher in AMD patients than in controls (p=0.0006) with an odds ratio (OR) of 2.187 (95%CI; 1.371-3.488). Genotype distribution was also significantly different when cases and controls were compared (p=0.006). For the comparison between CT versus TT genotype (p=0.0209), the OR for heterozygotes was 2.114 (95%CI; 1.082-4.132) and for the comparison between CC versus TT (p=0.0027) the OR for CC homozygotes was 4.933 (95%CI; 1.656-14.7). On the other hand the frequency of the CFHR3/CFHR1 deletion was significantly higher in controls when compared to AMD cases (p=0.0330).
These results are in accordance with the literature and support the role of the C allele of the CFH gene in AMD susceptibility as well as the contribution of the CFHR3/CFHR1 deletion as a protective factor against the development of the disease in this sample of Brazilian AMD patients.
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