Retina-Vitreous
2022 , Vol 31 , Num 3
Relationship Between Three Common Genetic Variations of ATM and the Risk of Age-Related Macular Degeneration
1Asist. Dr., Department of Biology, College of Sciences, Shiraz University, Shiraz 71467-13565, Iran2Prof. Dr., Department of Biology, College of Sciences, Shiraz University, Shiraz 71467-13565, Iran DOI : 10.37845/ret.vit.2022.31.39 Purpose: The association of a few single nucleotide polymorphisms (SNPs) of gene involved in DNA repair pathways with the risk of agerelated macular degeneration (AMD) have been studied. However, the contribution of SNPs of ataxia telangiectasia mutated gene (ATM; MIM: 706585) has not yet been evaluated. The aim of this study was to examine the relationship between the rs611646, rs609429, and rs228593 polymorphisms of the ATM with the risk of AMD.
Materials and Methods: In the present study we used two pooled genomic DNA samples of 120 AMD patients and 118 healthy controls. PCR was carried out by specific primers using pooled samples, as template DNA. The allelic frequencies were estimated using measurement of band intensity on agarose gel electrophoresis.
Results: Statistical analysis revealed that there was no significant association between the studied ATM polymorphisms and the risk of AMD.
Conclusions: This study suggested that the rs611646, rs609429, and rs228593 of ATM1 is not predisposed polymorphisms for AMD.
Keywords : Age-related macular degeneration, ATM, Pooled samples