RESUMO
Background: Genetic and environmental factors are known to be risk factors in development of neovascular age-related macular degeneration [nAMD]. Genetic factors such as polymorphisms in the complement component pathway genes might play a role in pathogenesis of nAMD and has been studied in various populations excluding Malaysia
Aim of the study: To determine the association of the R102G polymorphism of the complement component [C3] gene in nAMD subjects
Patients and methods: A total of 301 Malaysian subjects [149 case and 152 controls] were recruited and genotyped for the R102G [rs2230199] variant of the C3 gene. Genotyping was conducted using the PCRRFLP method and association analysis was conducted using appropriate statistical tests
Results: From our findings, no significant association was observed in the allele distribution of C3 R102G between nAMD and controls [OR = 1.42, 95% CI = 0.77-2.62, P = 0.268]. A further analysis that compared three genetic models [dominant, recessive and co-dominant] also recorded no significant difference [P > 0.05]. These findings could be due to the low frequency of the GG variant in the case [4.7%] and control [1.3%] groups, compared to the normal variant CC, which is present in 91.3% of case and 92.8% of control alleles
Conclusion: The present study showed no evidence of association between C3 R102G polymorphism and nAMD in Malaysian subjects