PCOS data.xlsx

Polycystic ovary syndrome (PCOS) is a prevalent hormonal disorder affecting women in their reproductive age and is more common in South Asia with 52% of cases only in Pakistan. This study investigated the role of SNPs rs2479106 and rs10818854 in the DENN Domain Containing 1A (DENND1A) gene with demographic and clinical factors in developing PCOS. We also investigated the factors that impact the number of ovarian cysts in women having PCOS and examined the sizes of the cysts with the number of cysts. We enrolled 320 subjects including 160 cases and 160 controls. DNA was extracted from their blood samples and the Tetra-Arm PCR method was utilized to amplify target DNA in DENND1A. The chi-square test determined the association between genetic and non-genetic variables with PCOS. The Classification and Regression Trees (CRT) model and odd ratios were used to identify the potential genetic, demographic, and clinical factors that cause PCOS. The results demonstrated a strong association between education, marital status, irregular menstrual cycles, and SNP rs2479106 (A/G) with PCOS while 71.4% of women with alternative genotype AA and 74.5% with genotype GA for SNP rs10818854 had PCOS. The CRT model indicated that the risk of PCOS increased in women with DENND1A gene variants, menstrual irregularity, abnormal hormone levels, and BMI > 22.5. Moreover, Women between their peak reproductive age (from >22 years to ≤ 29.5) would have the risk of developing more cysts in their ovaries. Our findings reflected that PCOS is a multifactorial condition influenced by hormonal imbalances, lifestyle choices, and genetics. Women with investigated SNPs are advised to maintain a healthy lifestyle to overcome the chances of PCOS. These results may help medical practitioners in risk assessment, enabling early intervention and management of disease to maintain the health of women.