Oxidative stress generates 8-hydroxy-2'-deoxyguanine (8-oxodG), which can structurally modify DNA. Glycosylase hOGG1 can remove the mutagenic lesion 8-oxodG from DNA. The aim of the present study was to determine whether polymorphisms in hOGG1 were associated with the risk of polycystic ovary syndrome (PCOS). One common single-nucleotide polymorphism (Ser326Cys) in exon 7 and four rare polymorphisms (c.-18G>T, c.-23A>G, c.-45G>A and c. -53G>C) were screened in the 5' untranslated region of the hOGG1 gene. No such distributional differences were observed between the PCOS patients and controls either in the genotype frequency or in the allele frequency. There were no differences in the clinical variables among the different genotypes in all the variants, except that the follicle-stimulating hormone level was elevated in the GC genotype of c. -53G>C in PCOS patients (P=0.002). These results suggest that the polymorphisms in hOGG1 may not be an independent risk factor for PCOS.
Keywords: 5′ untranslated region; genetic polymorphism; hOGG1; polycystic ovary syndrome.