PMID- 27574919
OWN - NLM
STAT- MEDLINE
DCOM- 20170411
LR  - 20210816
IS  - 1945-0257 (Electronic)
IS  - 1945-0257 (Linking)
VI  - 20
IP  - 11
DP  - 2016 Nov
TI  - A Study on the Role of Estrogen Receptor Gene Polymorphisms in Female 
      Infertility.
PG  - 692-695
AB  - BACKGROUND: Female infertility is often of unknown etiology and is a significant 
      medical problem. It occurs when implantation does not occur; a fertilized embryo 
      fails to survive after implantation; or when the egg cannot move from the ovary 
      to the uterus. The aim of this study was to analyze the role of estrogen receptor 
      1 (ESR1) genotypes in female infertility. METHODS: Blood samples were collected 
      from 114 women with infertility undergoing infertility treatment. Samples were 
      also collected from 115 age-matched control women with at least one live child 
      and with no history of infertility or abortions. Genomic DNA was isolated from 
      the blood samples, and genotyping of the ESR1 gene was performed using polymerase 
      chain reaction-restriction fragment length polymorphism. RESULTS: The study 
      revealed the presence of two single nucleotide polymorphisms (SNPs) in the ESR1 
      gene, PvuII and XbaI. Individual analyses of these two polymorphisms showed that 
      the XbaI heterozygote was significantly increased in controls compared to cases 
      (odds ratio-0.39, confidence interval-0.21 to 0.74, p-0.005). The combined 
      analysis of the PvuII and XbaI genotypes showed no significant difference between 
      the case and control samples. CONCLUSION: Analysis of the Pvull and Xba1 
      polymorphisms of the ESR1 gene, demonstrated that the XbaI heterozygote was 
      significantly increased in controls indicating a protective effect.
FAU - Swaminathan, Monisha
AU  - Swaminathan M
AD  - 1 Department of Biomedical Genetics, School of BioSciences and Technology, VIT 
      University , Vellore, India .
FAU - Ganesh, Vijaya
AU  - Ganesh V
AD  - 2 Department of Human Genetics, Sri Ramachandra University , Chennai, India .
FAU - Koshy, Teena
AU  - Koshy T
AD  - 2 Department of Human Genetics, Sri Ramachandra University , Chennai, India .
FAU - Venugopal, Priyanka
AU  - Venugopal P
AD  - 2 Department of Human Genetics, Sri Ramachandra University , Chennai, India .
FAU - Paul, Solomon
AU  - Paul S
AD  - 2 Department of Human Genetics, Sri Ramachandra University , Chennai, India .
FAU - Venkatesan, Vettriselvi
AU  - Venkatesan V
AD  - 2 Department of Human Genetics, Sri Ramachandra University , Chennai, India .
LA  - eng
PT  - Journal Article
DEP - 20160830
PL  - United States
TA  - Genet Test Mol Biomarkers
JT  - Genetic testing and molecular biomarkers
JID - 101494210
RN  - 0 (ESR1 protein, human)
RN  - 0 (Estrogen Receptor alpha)
SB  - IM
MH  - Adult
MH  - Case-Control Studies
MH  - Estrogen Receptor alpha/*genetics/metabolism
MH  - Female
MH  - Genetic Predisposition to Disease
MH  - Genotype
MH  - Haplotypes
MH  - Heterozygote
MH  - Humans
MH  - Infertility, Female/*genetics/metabolism
MH  - Odds Ratio
MH  - Polymorphism, Single Nucleotide
MH  - Pregnancy/genetics
OTO - NOTNLM
OT  - RFLP
OT  - estrogen receptor alpha
OT  - female infertility
OT  - gene polymorphism
OT  - genotyping
EDAT- 2016/08/31 06:00
MHDA- 2017/04/12 06:00
CRDT- 2016/08/31 06:00
PHST- 2016/08/31 06:00 [pubmed]
PHST- 2017/04/12 06:00 [medline]
PHST- 2016/08/31 06:00 [entrez]
AID - 10.1089/gtmb.2016.0097 [doi]
PST - ppublish
SO  - Genet Test Mol Biomarkers. 2016 Nov;20(11):692-695. doi: 10.1089/gtmb.2016.0097. 
      Epub 2016 Aug 30.