Variation in DNA Base Excision Repair Genes in Fuchs Endothelial Corneal Dystrophy.

ABSTRACT: BACKGROUND Fuchs endothelial corneal dystrophy (FECD) is a corneal disease characterized by abnormalities in the Descemet membrane and the corneal endothelium. The etiology of this disease is poorly understood. An increased level of oxidative DNA damage reported in FECD corneas suggests a role of DNA base excision repair (BER) genes in its pathogenesis. In this work, we searched for the association between variation of the PARP-1, NEIL1, POLG, and XRCC1 genes and FECD occurrence. MATERIAL AND METHODS This study was conducted on 250 FECD patients and 353 controls using polymerase chain reaction-restriction fragment length polymorphism, high-resolution melting analysis, and the TaqMan® SNP Genotyping Assay. RESULTS We observed that the A/A genotype and the A allele of the c.1196A>G polymorph

SUBMITTER: Wojcik KA 

PROVIDER: S-EPMC4582917 | biostudies-literature | 2015 Sep

REPOSITORIES: biostudies-literature