Examining the Genetic Role of rs8192675 Variant in Saudi Women Diagnosed with Polycystic Ovary Syndrome

Abstract

Polycystic ovary syndrome is a complex disorder defined by the Rotterdam criteria. Insulin resistance is a common factor for the development of type 2 diabetes mellitus among women with PCOS. The SLC2A2 gene has been identified as a T2DM gene by genome-wide association studies in the rs8192675 SNP. This study aimed to investigate the rs8192675 SNP in women diagnosed with PCOS on a molecular level and further for T2DM development in the Saudi women. In this case-control study, 100 PCOS women and 100 healthy controls were selected. Among 100 PCOS women, 28 women showed T2DM development. Genotyping for rs8192675 SNP was performed by PCR-RFLP analysis. Additionally, Sanger sequencing was performed to validate the RFLP analysis. The obtained data were used for a statistical analysis for the genotype and allele frequencies, logistic regression, and ANOVA analysis. The clinical data confirmed the positive association between FBG, FI, FSH, TT, TC, HDLc, LDLc, and family histories (p < 0.05). HWE analysis was associated in both the PCOS cases and the control individuals. Genotype and allele frequencies were associated in PCOS women and strongly associated with women with PCOS who developed T2DM (p < 0.05). No association was found in the logistic regression model or ANOVA analysis studied in women with PCOS (p > 0.05). A strong association was observed between the rs8192675 SNP and women with PCOS who developed T2DM using ANOVA analysis (p < 0.05). This study confirms that the rs8192675 SNP is associated with women with PCOS and strongly associated with women with PCOS with developed T2DM in Saudi Arabia.

Elevated Anti-Müllerian Hormone as a Prognostic Factor for Poor Outcomes of In Vitro Fertilization in Women with Polycystic Ovary Syndrome

“…Additionally, the retrospective analysis was limited to data previously available, while in a prospective study, other specified parameters, such as androgen levels and genotyping, could have been collected. Androgen levels could be useful not only for detailed phenotypic characterization, but also to explore the correlation between androgens and AMH, while gene polymorphisms could contribute to explain the phenotypic variability and provide further insights on the expected outcomes [51,52]. Another limitation is the fact that the endometrium was not evaluated.…”

Association of genetic predisposition studies in CYP1A1 polymorphism studies in acute myeloid leukemia

“…A well-known restriction enzyme i.e., BsrDI was used to digest the PCR products into149 and 55 bp respectively. The protocol of the digestion was carried out based on the recent study ( Alsobaie et al, 2023 ). PCR and BsrDI was run on 2 % agarose gel stained with ethidium bromide liquid.…”