@article{Sadat Eshaghi_Dehghan Tezerjani_Ghasemi_Dehghani_2022, title={Association study of ESR1 rs9340799, rs2234693, and MMP2 rs243865 variants in Iranian women with premature ovarian insufficiency: A case-control study}, volume={20}, url={https://knepublishing.com/index.php/ijrm/article/view/12268}, DOI={10.18502/ijrm.v20i10.12268}, abstractNote={<p><strong>Background:</strong> Primary ovarian insufficiency (POI) is a rare disease clinically characterized by ovarian follicles depletion or dysfunction and menopause before the age of 40 yr as the cut-off age for POI. It is a complex disease, and its etiology involves several factors. However, genetic factors have a predominant role in the susceptibility to the disease.</p> <p><strong>Objective:</strong> This study aims to investigate the polymorphisms of rs243865 in the matrix metallopeptidase 2 (<em>MMP2</em>) gene and rs2234693 and rs9340799 in the estrogen receptor 1 (<em>ESR1</em>) gene with susceptibility to POI in Iranian women under 35 yr.</p> <p><strong>Materials and Methods:</strong> This case-control study was performed on 150 women with POI and 150 healthy women who were referred to Yazd Reproductive Sciences Institute, Yazd, Iran between May-October 2020. The genotyping of <em>ESR1</em> rs9340799, rs2234693, and <em>MMP2</em> rs243865 polymorphism was done using tetra-amplification refractory mutation system-polymerase chain reaction. In addition, haplotype analysis and linkage disequilibrium were investigated by SNPanalyzer software.</p> <p><strong>Results:</strong> Our study revealed the frequency of rs243865 TT, CC genotypes in the <em>MMP2</em> gene and rs2234693 CC, TT; and rs9340799 GG, AA in the <em>ESR1</em> gene were more prevalent in the case group compared to the control group. In addition, <em>ESR1</em> rs2234693 and rs9340799 genotypes showed significant association with the development of the disease in our population. Among 4 haplotypes for 2 polymorphisms in the <em>ESR1</em> gene, rs2234693T/rs9340799A haplotype was associated with conferring risk to POI.</p> <p><strong>Conclusion:</strong> <em>ESR1</em> rs2234693 and rs9340799 polymorphism were strongly associated with our population’s POI.</p> <p><strong>Key words:</strong> Matrix metalloproteinase-2, Estrogen receptor alpha, Primary ovarian insufficiency, Female infertility.</p&gt;}, number={10}, journal={International Journal of Reproductive BioMedicine (IJRM)}, author={Sadat Eshaghi, Farzaneh and Dehghan Tezerjani, Masoud and Ghasemi, Nasrin and Dehghani, Mohammadreza}, year={2022}, month={Nov.}, pages={841–850} }