Abstract
Abstract: :
Purpose: To investigate the role of polymorphisms in genes encoding enzymes involved in the detoxification of reactive oxygen species produced from the breakdown of industrial pollutants including cigarette smoke in increasing susceptibility to advanced age–related macular degeneration (AMD). Methods: Control subjects were selected from the Northern Ireland arm of the population based European Eye diseases Study (EUREYE) which obtained prevalence estimates of early and late AMD using standardised grading of digital fundus photographs. Cases were subjects from the same region (Northern Ireland) attending local eye units. Common single nucleotide polymorphisms (SNPs) for eleven genes, CYP1A1, CYP2, C2E1, C2D6, EPHX1, MnSOD, AhR, NAT2, CAT, GPX1 and PON1, were typed in cases and controls and differences in individual SNP and haplotype frequencies were examined. Results:
* Result for single SNP a Possible association Conclusion: The results of the present study suggest that the genes assessed are unlikely to be associated with AMD. Furthermore they do not substantiate the role of PON1 and MnSOD previously reported to be implicated in the development of wet AMD. However there may be a possible association of C2E1 and AhR, though not statistically significant after correction for number of genes assessed.
Keywords: age–related macular degeneration • genetics