Karimi, Roghayeh, Shafienia, Hanieh, Hoseini, Seyed Mehdi, Behjoo, Maryam, Rajabi, Mahya, Sheikhha, Mohammad Hasan, Dehghani, Mahmood, Montazeri, Fateme (2026). Evaluation of ESR2 rs4986938 (+1730 G/A) Polymorphism As a Potential Genetic Risk Factor for Polycystic Ovary Syndrome. Shahid Sadoughi University of Medical Sciences- Journal Management System, (), -.
Roghayeh Karimi; Hanieh Shafienia; Seyed Mehdi Hoseini; Maryam Behjoo; Mahya Rajabi; Mohammad Hasan Sheikhha; Mahmood Dehghani; Fateme Montazeri. "Evaluation of ESR2 rs4986938 (+1730 G/A) Polymorphism As a Potential Genetic Risk Factor for Polycystic Ovary Syndrome". Shahid Sadoughi University of Medical Sciences- Journal Management System, , , 2026, -.
Karimi, Roghayeh, Shafienia, Hanieh, Hoseini, Seyed Mehdi, Behjoo, Maryam, Rajabi, Mahya, Sheikhha, Mohammad Hasan, Dehghani, Mahmood, Montazeri, Fateme (2026). 'Evaluation of ESR2 rs4986938 (+1730 G/A) Polymorphism As a Potential Genetic Risk Factor for Polycystic Ovary Syndrome', Shahid Sadoughi University of Medical Sciences- Journal Management System, (), pp. -.
Karimi, Roghayeh, Shafienia, Hanieh, Hoseini, Seyed Mehdi, Behjoo, Maryam, Rajabi, Mahya, Sheikhha, Mohammad Hasan, Dehghani, Mahmood, Montazeri, Fateme Evaluation of ESR2 rs4986938 (+1730 G/A) Polymorphism As a Potential Genetic Risk Factor for Polycystic Ovary Syndrome. Shahid Sadoughi University of Medical Sciences- Journal Management System, 2026; (): -.

Evaluation of ESR2 rs4986938 (+1730 G/A) Polymorphism As a Potential Genetic Risk Factor for Polycystic Ovary Syndrome

Journal of Integrated Maternal and Pediatric Care
Articles in Press, Accepted Manuscript, Available Online from 19 September 2026
Document Type: Original Article
Authors
Roghayeh Karimi1, 2; Hanieh Shafienia1, 3; Seyed Mehdi Hoseini4; Maryam Behjoo1; Mahya Rajabi1; Mohammad Hasan Sheikhha1; Mahmood Dehghani2; Fateme Montazeri* 1
1Abortion Research Center, Yazd Reproductive Sciences Institute, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
2Department of Biology, Ashkezar Branch, Islamic Azad University, Ashkezar, Iran
3Mother and Newborn Health Research Center, Comprehensive Research Institute for Maternal and Child Health, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
4Biotechnology Research Center, Yazd Reproductive Sciences Institute, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
Abstract
Background: Polycystic Ovary Syndrome (PCOS) is a complex endocrine disorder affecting approximately 18% of reproductive-aged women. Given the crucial role of estrogen in regulating folliculogenesis and ovulation, estrogen receptor (ER) genes, particularly ESR2, are considered primary candidates for investigating the genetic basis of this syndrome. This study was designed to evaluate the frequency distribution of the ESR2 rs4986938 (+1730 G/A) polymorphism in an Iranian population and determine its potential association with PCOS risk and related hormonal/metabolic parameters.
Methods: A case–control genetic association analysis was conducted to compare genotype frequencies of the ESR2 rs4986938 polymorphism between women diagnosed with PCOS and healthy controls. Anthropometric and hormonal variables, including BMI, PRL, LH, and FSH, were assessed across genotypes.
Results: The GA genotype was significantly more prevalent in the PCOS group compared with controls (83% vs. 58%, p < 0.05), indicating a strong association with increased susceptibility. Significant correlations were also observed between the rs4986938 polymorphism and BMI, PRL, LH, and FSH levels.
Conclusion: Our results suggest that the ESR2 rs4986938 polymorphism, and potentially adjacent regulatory regions, may contribute to the etiology of PCOS and its metabolic and reproductive complications. Identification of such genetic variants could support early risk prediction and inform preventive strategies for managing PCOS-related outcomes.
Keywords
Estrogen; ESR2; SNP; Polycystic Ovary Syndrome
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