Genetic contribution between APE1 variants in polycystic ovarian syndrome

Polycystic Ovarian Syndrome (PCOS) has been identified as a gynecological, hormonal, and metabolic condition in women of reproductive age. Genetic studies can contribute to understand the pathogenesis of PCOS; which can be beneficial in early diagnosis and long-term management of the disease. Apurinic/apyrimidinic endonuclease 1 (APE1) has been related in the literature to polycystic ovarian syndrome.

The purpose of this study was to investigate the effects of -656 T > G and 1349 T > G single nucleotide polymorphisms (SNPs) in the APE1 gene in Saudi women with PCOS.

This study includes 100 PCOS women and 100 healthy controls were genotyped for -656 T > G and 1349 T > G SNPs using PCR-RFLP method. Serum sample was used for FBG and lipid profile tests. The obtained biochemical and genotypes data were entered into Excel and utilized for statistical analysis.

Clinical data presented in Table 1 was used to calculate the t-tests between PCOS and control subjects and results indicate age, weight, BMI, TG, LDLC and PCOS family history was associated (p < 0.0001). Genotype and allele frequencies showed the negative association in -656 T > G SNP (GG vs TT: OR-1.15 (0.61-2.17); p = 0.65 and GG + TG vs TT: OR-1.17 (0.67-2.04); p = 0.57) and positive association in 1349 T > G SNP (GG vs TT: OR-3.52 (1.48-8.36); p = 0.003 and GG + TG vs TT: OR-2.84 (1.27-6.31); p = 0.008) in APE1 gene. Anova analysis was not associated with any one of the involved parameters (p > 0.05).

This study found that the 1349 T > G SNP was related with PCOS in Saudi women. However, the -656SNP had no favorable effect on the APE1 gene.