Materials and Methods: This case-control study was done at the Gynaecological Department of Al-Yarmouk Teaching Hospital of AI-Mustansiriyah College of Medicine, Baghdad during January-December 2018. Two-hundred women were enrolled in the study, including 100 women with PCOS as the case group and 100 healthy and age-matched women as the control group. Main outcome measures were to analyze DENND1a gene polymorphism rs2479106 and THADA gene polymorphism rs12478601 at genotype and allelic levels.

Results: The DENND1A gene polymorphism rs2479106 had three genotypes of AA, AG, and GG. The homozygous mutant genotype (GG) was considerably related to the incidence of PCOS (OR = 5.43, 95% CI = 1.13-25.97, P = 0.034) with 5-time more risk compared with those carrying the wild homozygous genotype (AA). The heterozygous genotype (AG) was more but not statistically different (OR = 1.73, 95% CI = 0.85-3.54, P = 0.131). At the allelic level, G allele was two times more frequent among cases compared to control cases with a highly significant difference. THADA gene polymorphism rs12478601 had three genotypes of CC, CT, and TT. Although TT genotype was repeated more among the case group than controls, the difference was not significant (P = 0.346). Likewise, no significant differences were found in the allele distribution of this polymorphism.

Conclusions: In general, the DENND1A-rs 2479106 polymorphism was considerably related to the incidence of PCOS among Iraqi women while THADA-rs12478601 polymorphism was not.