• Impact of miR146 rs6864584 polymorphism on risk of polycystic ovarian syndrome in the Southeast Iranian population
  • Narges-khatoon Mohagheghi,1 Mahdi Majidpour,2 Ramin Saravani,3 Saman Sargazi,4,*
    1. Department of Clinical Biochemistry, School of Medicine, Zahedan University of Medical Sciences, Zahedan, Iran
    2. Department of Clinical Biochemistry, School of Medicine, Zahedan University of Medical Sciences, Zahedan, Iran
    3. Department of Clinical Biochemistry, School of Medicine, Zahedan University of Medical Sciences, Zahedan, Iran
    4. Department of Clinical Biochemistry, School of Medicine, Zahedan University of Medical Sciences, Zahedan, Iran


  • Introduction: Polycystic ovary syndrome (PCOS) is a multifactorial endocrine disorder that occurs in about 5-20 percent of women of reproductive age all over the world. Recently, microRNAs (miRNAs) have become important regulators and biomarkers of certain PCOS phenotypes. On this basis, we conducted a preliminary study to examine the relationship between miR-146a rs6864584 polymorphism and predisposition to PCOS.
  • Methods: This case-control study involved 286 participants, 143 women newly diagnosed with PCOS at Imam Ali Hospital, Zahedan, Iran, and 143 healthy controls matched with the general population. The patients were recruited according to the Rotterdam (2003) Diagnostic criteria for PCOS. Patients with systemic illnesses such as cancer, acromegaly, diabetes mellitus (DM), insulin resistance, hypertension, thyroid disorders, hyperprolactinemia, severe acne, Cushing syndrome, or autoimmune diseases were excluded, as well as those with a family history of other participants. The miR-146a variant (rs6864584) was genotyped by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique.
  • Results: Age was well matched between the case and control groups (p=0.22), and the genotype frequencies in the control group were in Hardy-Weinberg equilibrium (p > 0.05). The polymorphism of the rs6864584 was analyzed, and the significantly increased risk of PCOS was observed under the codominant heterozygous [Odds Ratio (OR) = 2.51; 95% CI 1.11–5.71; p= 0.031], dominant (OR =2.71; 95% CI 1.25–5.87; p=0.018), and overdominant genetic models (OR =2.46; 95% CI 1.12–5.58; p=0.037). Moreover, the C allele was linked with the risk of PCOS, which increased 2.75-fold (OR =2.75; 95% CI 1.36–5.61; p=0.008).
  • Conclusion: We conclude that the miR-146a rs6864584 polymorphism is linked to a high risk of developing PCOS and this finding could be relevant in the etiology of the disease. These findings require validation in larger, independent cohorts.
  • Keywords: Polycystic ovarian syndrome, Genetic association study, Polymorphism, MicroRNA, MiR146a