PMID- 29105397
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20200930
IS  - 2228-5806 (Print)
IS  - 2228-5814 (Electronic)
IS  - 2228-5806 (Linking)
VI  - 19
IP  - 4
DP  - 2018 Jan
TI  - The Impact of Genetic Variation and Gene Expression Level of The 
      Follicle-Stimulating Hormone Receptor on Ovarian Reserve.
PG  - 620-626
LID - 10.22074/cellj.2018.4183 [doi]
AB  - OBJECTIVES: Ovarian reserve is defined as the capacity of the ovary to provide 
      fertile oocytes. Diminished ovarian reserve (DOR) is a disorder in which ovaries 
      are prone to go through early menopause. Where this loss of function occurs 
      before the age of 40, it results in the premature ovarian failure (POF) disease. 
      Throughout folliculogenesis, the follicle-stimulating hormone receptor (FSHR) 
      starts a signaling cascade in the granulosa cells where its inactivation leads to 
      the arrest of follicle maturation and therefore adversely affects ovarian 
      reserve. The aim of this study was to investigate the association of genetic 
      variation (polymorphisms and inactivating mutations) of FSHR with POF and DOR. 
      MATERIALS AND METHODS: This case-control study comprised 84 POF, 52 DOR and 80 
      fertile Iranian women. To determine the presence of the 566C>T mutation and the 
      -29G>A polymorphism in FSHR, PCR-RFLP method was used. SSCP-sequencing was used 
      to identify any allelic variants in exon 10. The expression of human FSHR at the 
      transcript level was also compared between DOR and fertile controls by real 
      time-polymerase chain reaction (PCR). RESULTS: The 566C>T polymorphism was normal 
      in all the cases. All genotypes of -29G>A and 919G>A (exon 10) polymorphisms were 
      observed. Statistically significant differences were seen in the genotypic 
      distribution of both polymorphisms when comparing the control group with the DOR 
      patient group. A decrease was observed in FSHR expression of DOR patients 
      compared with the control group but was not significant. CONCLUSIONS: We conclude 
      that the -29G>A and 919G>A polymorphisms in FSHR may be associated with DOR. 
      Although these polymorphisms had significant differences at the genic level, no 
      significant variation was found at the transcript level.
CI  - Copyright(c) by Royan Institute. All rights reserved.
FAU - Ghezelayagh, Zeinab
AU  - Ghezelayagh Z
AD  - University of Science and Culture, Faculty of Basic Sciences and Advanced 
      Technologies in Biology, ACECR, Tehran, Iran.
AD  - Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute 
      for Reproductive Biomedicine, ACECR, Tehran, Iran.
FAU - Totonchi, Mehdi
AU  - Totonchi M
AD  - Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute 
      for Reproductive Biomedicine, ACECR, Tehran, Iran.
FAU - Zarei-Moradi, Shabnam
AU  - Zarei-Moradi S
AD  - Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute 
      for Reproductive Biomedicine, ACECR, Tehran, Iran.
FAU - Asadpour, Ommolbanin
AU  - Asadpour O
AD  - Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute 
      for Reproductive Biomedicine, ACECR, Tehran, Iran.
FAU - Maroufizadeh, Saman
AU  - Maroufizadeh S
AD  - Department of Epidemiology and Reproductive Health, Reproductive Epidemiology 
      Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, 
      Iran.
FAU - Eftekhari-Yazdi, Poopak
AU  - Eftekhari-Yazdi P
AD  - Department of Embryology, Reproductive Biomedicine Research Center, Royan 
      Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.
FAU - Gourabi, Hamid
AU  - Gourabi H
AD  - Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute 
      for Reproductive Biomedicine, ACECR, Tehran, Iran.
FAU - Mohseni-Meybodi, Anahita
AU  - Mohseni-Meybodi A
AD  - Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute 
      for Reproductive Biomedicine, ACECR, Tehran, IranElectronic address: 
      anahitamohseni@gmail.com.
LA  - eng
PT  - Journal Article
DEP - 20171104
PL  - Iran
TA  - Cell J
JT  - Cell journal
JID - 101566618
PMC - PMC5672101
OTO - NOTNLM
OT  - Allelic Variants
OT  - Follicle Stimulating Hormone Receptor
OT  - Premature Ovarian Failure
COIS- The authors declare no conflict of interest in this study.
EDAT- 2017/11/07 06:00
MHDA- 2017/11/07 06:01
PMCR- 2018/01/01
CRDT- 2017/11/07 06:00
PHST- 2016/04/24 00:00 [received]
PHST- 2016/09/15 00:00 [accepted]
PHST- 2017/11/07 06:00 [entrez]
PHST- 2017/11/07 06:00 [pubmed]
PHST- 2017/11/07 06:01 [medline]
PHST- 2018/01/01 00:00 [pmc-release]
AID - 10.22074/cellj.2018.4183 [doi]
PST - ppublish
SO  - Cell J. 2018 Jan;19(4):620-626. doi: 10.22074/cellj.2018.4183. Epub 2017 Nov 4.