PMID- 36381354
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20221117
IS  - 2476-4108 (Print)
IS  - 2476-3772 (Electronic)
IS  - 2476-3772 (Linking)
VI  - 20
IP  - 10
DP  - 2022 Oct
TI  - Association study of ESR1 rs9340799, rs2234693, and MMP2 rs243865 variants in 
      Iranian women with premature ovarian insufficiency: A case-control study.
PG  - 841-850
LID - 10.18502/ijrm.v20i10.12268 [doi]
AB  - BACKGROUND: 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. OBJECTIVE: This study aims to 
      investigate the polymorphisms of rs243865 in the matrix metallopeptidase 2 (MMP2) 
      gene and rs2234693 and rs9340799 in the estrogen receptor 1 (ESR1) gene with 
      susceptibility to POI in Iranian women under 35 yr. MATERIALS AND METHODS: 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 ESR1 rs9340799, rs2234693, and MMP2 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. RESULTS: Our study 
      revealed the frequency of rs243865 TT, CC genotypes in the MMP2 gene and 
      rs2234693 CC, TT; and rs9340799 GG, AA in the ESR1 gene were more prevalent in 
      the case group compared to the control group. In addition, ESR1 rs2234693 and 
      rs9340799 genotypes showed significant association with the development of the 
      disease in our population. Among 4 haplotypes for 2 polymorphisms in the ESR1 
      gene, rs2234693T/rs9340799A haplotype was associated with conferring risk to POI. 
      CONCLUSION: ESR1 rs2234693 and rs9340799 polymorphism were strongly associated 
      with our population's POI.
CI  - Copyright (c) 2022 Eshaghi et al.
FAU - Sadat Eshaghi, Farzaneh
AU  - Sadat Eshaghi F
AD  - Department of Genetics, Faculty of Medicine, Shahid Sadoughi University of 
      Medical Sciences, Yazd, Iran.
FAU - Dehghan Tezerjani, Masoud
AU  - Dehghan Tezerjani M
AD  - Abortion Research Center, Yazd Reproductive Sciences Institute, Shahid Sadoughi 
      University of Medical Sciences, Yazd, Iran.
FAU - Ghasemi, Nasrin
AU  - Ghasemi N
AD  - Abortion Research Center, Yazd Reproductive Sciences Institute, Shahid Sadoughi 
      University of Medical Sciences, Yazd, Iran.
FAU - Dehghani, Mohammadreza
AU  - Dehghani M
AUID- ORCID: 0000-0002-8392-8175
AD  - Medical Genetics Research Center, Shahid Sadoughi University of Medical Sciences, 
      Yazd, Iran.
LA  - eng
PT  - Journal Article
DEP - 20221102
PL  - Iran
TA  - Int J Reprod Biomed
JT  - International journal of reproductive biomedicine
JID - 101679102
PMC - PMC9644649
OTO - NOTNLM
OT  - Female infertility.
OT  - Primary ovarian insufficiency
OT  - Estrogen receptor alpha
OT  - Matrix metalloproteinase-2
COIS- The authors declare that they do not have any conflict of interest.
EDAT- 2022/11/17 06:00
MHDA- 2022/11/17 06:01
PMCR- 2022/11/02
CRDT- 2022/11/16 02:52
PHST- 2021/10/16 00:00 [received]
PHST- 2022/04/06 00:00 [revised]
PHST- 2022/06/11 00:00 [accepted]
PHST- 2022/11/16 02:52 [entrez]
PHST- 2022/11/17 06:00 [pubmed]
PHST- 2022/11/17 06:01 [medline]
PHST- 2022/11/02 00:00 [pmc-release]
AID - 10.18502/ijrm.v20i10.12268 [doi]
PST - epublish
SO  - Int J Reprod Biomed. 2022 Nov 2;20(10):841-850. doi: 10.18502/ijrm.v20i10.12268. 
      eCollection 2022 Oct.