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Objective: The objective of the study was to determine whether breast cancer-associated gene (BRCA1/2) mutations are associated with wet age-related macular degeneration (AMD), together with other risk factors of older age and impaired DNA repair. In addition, role of RAD51B in the BRCA pathway was also investigated. Design: This was a prospective, hospital-based study. Participants: Ninety-four patients (26 male/26 female Ashkenazi Jews and 24 male/18 female non-Ashkenazi Jews) with a clinical diagnosis of wet AMD. Methods: Genomic DNA was extracted and tested for mutations in BRCA1 (c.5382insC and 185delAG) and BRCA2 (c.6174delT). RAD51B analysis for rs17105278, rs4902566, and rs8017304 was performed using single-nucleotide polymorphisms (SNP) genotyping analysis. The results were validated by direct sequencing. Results: No BRCA1 mutations were found in the Ashkenazi or non-Ashkenazi Jews, and only one Ashkenazi Jew (1.92%) carried the BRCA2 mutation. In the RAD51B SNP analysis, the Ashkenazi Jews showed 1.75-fold higher frequency in rs17105278 and 1.43-fold lower frequency of rs4902566 SNP than the non-Ashkenazi group, and no difference in rs8017304. Conclusions: Ashkenazi Jews with wet ARMD did not show a higher rate of BRCA1/2 mutations than the general population (<2.5%), suggesting that BRCA1/2 plays no role in wet AMD in this ethnic group. No difference was found between Ashkenazi and nonAshkenazi Jews suffering from wet AMD patients. The differences in the SNP variations of RAD51 need to be further explored.

Breast cancer-associated gene 1/2 mutations are not associated with risk of exudative age-related macular degeneration in Ashkenazi Jews