Abstract
OBJECTIVES: Polycystic Ovarian Syndrome (PCOS) is a common endocrine and metabolic disorder, and a major health concern in Pakistani women, causing infertility, obesity, and psychological complications. The current study was aimed to elucidate the risk factors for PCOS and the association of SNPs rs1501299 and rs17300539 in Adiponectin (ADIPOQ) gene with serum adiponectin level and the vulnerability of PCOS in women ascertained from Southern Punjab, Pakistan. METHODS: In this observational case-control study design, 204 clinically confirmed PCOS patients and 150 healthy controls were recruited during 2020-2022 from tertiary care hospitals in Southern Punjab, Pakistan. SNPs were genotyped by ARMS-PCR and RFLP methods. RESULTS: The analyses revealed that obesity, smoking, family history, parental consanguinity, environmental exposures and ethnicity were significant risk factors of PCOS. SNPs (rs1501299 and rs17300539) were found to be significantly associated with elevated risk of PCOS in different inheritance models. At rs1501299, G-allele confers a significantly high risk of PCOS. Further, G-G haplotype at the forward strand and G-A haplotype at the reverse strand were significantly highly prevalent among the individuals with PCOS. Serum adiponectin level was significantly lower in individuals with GG genotype at rs1501299. CONCLUSION: This study elucidated certain bio-epidemiological variables as risk factors of PCOS. Additionally, SNPs rs1501299 and rs17300539 were strongly associated with increased PCOS risk. These findings may have direct application to clinical practice in women health. Additional studies are warranted to identify panel of SNPs that may be utilized as potential biomarkers for the risk of PCOS in this population.