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

Sarah Alsobaie; Arwa A Alageel; Tahira Ishfaq; Imran Ali Khan; Khalid Khalaf Alharbi

doi:10.3390/diagnostics13203214

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

Diagnostics (Basel). 2023 Oct 14;13(20):3214. doi: 10.3390/diagnostics13203214.

Authors

Sarah Alsobaie¹, Arwa A Alageel¹, Tahira Ishfaq², Imran Ali Khan¹, Khalid Khalaf Alharbi¹

Affiliations

¹ Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud University, Riyadh 11433, Saudi Arabia.
² Department of Obstetrics and Gynecology, College of Medicine, King Saud University, Riyadh 11472, Saudi Arabia.

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.

Keywords: SLC2A2 gene; Saudi women; T2DM; polycystic ovary syndrome (PCOS); rs8192675 SNP.

Grants and funding

RSPD2023R735/The authors would like to extend their sincere appreciation to the Researchers Supporting Project number (RSPD2023R735), King Saud University, Riyadh, Saudi Arabia, for funding this project.