PMID- 31092986
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20201001
IS  - 0970-1915 (Print)
IS  - 0974-0422 (Electronic)
IS  - 0970-1915 (Linking)
VI  - 34
IP  - 2
DP  - 2019 Apr
TI  - Clinical Importance of Estrogen Receptor 1 (ESR1) Gene Polymorphisms and Their 
      Expression Patterns in Coronary Artery Disease Patients: A Study from India.
PG  - 133-142
LID - 10.1007/s12291-019-00827-y [doi]
AB  - The influence of Estrogen Receptor 1 (ESR1) gene -397T>C (PvuII) and -351A>G 
      (XbaI) polymorphisms on the risk of development of coronary artery disease (CAD) 
      in the north Indian population was analysed. We hypothesized that ESR1 gene 
      polymorphisms may influence the susceptibility to CAD through variation in 
      Estrogen Receptor alpha (ERalpha) expression. To assess this concept, we evaluated ERalpha 
      mRNA expression in blood plasma of CAD patients. The study included hundred CAD 
      patients who showed presence of greater than 50% luminal stenosis in at least one 
      major coronary artery in angiography along with hundred age and sex matched 
      healthy controls. The ESR1 polymorphisms were investigated by PCR-RFLP. 
      Quantitative Real Time PCR was carried out for the measurement of ERalpha mRNA 
      expression. The results showed that genotypic frequencies of ESR1 -397T>C and 
      -351A>G gene polymorphisms were significantly higher in CAD patients than control 
      subjects (p < 0.0001). A significantly increased CAD risk was also found in 
      dominant and codominant inheritance model for both of the SNPs. In gender based 
      analysis these findings were replicated only in male subgroup. In case of -397T>C 
      polymorphism, the ERalpha mRNA expression was highest in CAD patients with wild type 
      homozygous TT genotype (2(-∆ct) = 0.28). A mutant 'C' allele, dose dependent, 
      significant decrease in trend in ERalpha mRNA expression was observed, with lowest 
      expression in mutant homozygous CC genotype (2(-∆ct) = 0.09), and intermediate 
      expression level in heterozygous TC genotype (2(-∆ct) = 0.14) subgroups of CAD 
      patients. In conclusion, this study demonstrates a significantly heightened risk 
      of CAD associated with the inheritance of mutant genotypes of ESR1 -397T>C and 
      -351A>G gene polymorphisms, in the north Indian population. This is the first 
      report of a lowered ERalpha mRNA expression in conjunction with the presence of 
      mutant 'C' allele of ESR1 -397T>C polymorphism with consequent increased CAD 
      susceptibility.
FAU - Sumi, Mamta P
AU  - Sumi MP
AD  - 1Department of Biochemistry, Maulana Azad Medical College, University of Delhi, 
      New Delhi, India. ISNI: 0000 0001 2109 4999. GRID: grid.8195.5
FAU - Guru, Sameer Ahmad
AU  - Guru SA
AD  - 1Department of Biochemistry, Maulana Azad Medical College, University of Delhi, 
      New Delhi, India. ISNI: 0000 0001 2109 4999. GRID: grid.8195.5
FAU - Mir, Rashid
AU  - Mir R
AD  - 1Department of Biochemistry, Maulana Azad Medical College, University of Delhi, 
      New Delhi, India. ISNI: 0000 0001 2109 4999. GRID: grid.8195.5
FAU - Masroor, Mirza
AU  - Masroor M
AD  - 1Department of Biochemistry, Maulana Azad Medical College, University of Delhi, 
      New Delhi, India. ISNI: 0000 0001 2109 4999. GRID: grid.8195.5
FAU - Bhat, Musadiq A
AU  - Bhat MA
AD  - 1Department of Biochemistry, Maulana Azad Medical College, University of Delhi, 
      New Delhi, India. ISNI: 0000 0001 2109 4999. GRID: grid.8195.5
FAU - Girish, M P
AU  - Girish MP
AD  - 2Department of Cardiology, GB Pant Hospital, University of Delhi, New Delhi, 
      India. ISNI: 0000 0001 2109 4999. GRID: grid.8195.5
FAU - Saxena, Alpana
AU  - Saxena A
AD  - 1Department of Biochemistry, Maulana Azad Medical College, University of Delhi, 
      New Delhi, India. ISNI: 0000 0001 2109 4999. GRID: grid.8195.5
LA  - eng
PT  - Journal Article
DEP - 20190405
PL  - India
TA  - Indian J Clin Biochem
JT  - Indian journal of clinical biochemistry : IJCB
JID - 8708303
PMC - PMC6486943
OTO - NOTNLM
OT  - Coronary artery disease
OT  - ERalpha mRNA expression
OT  - ESR1 gene polymorphisms
OT  - Real time PCR
COIS- There is no conflict of interest to declare in this study.The study was conducted 
      in accordance to GCP and ICMR guideline and approved by Institutional Ethical 
      Committee of Maulana Azad Medical College, New Delhi, India. The study was 
      approved by Institutional Ethical Committee of Maulana Azad Medical College, New 
      Delhi, India.Written informed consent was obtained from each patient and healthy 
      volunteer.
EDAT- 2019/05/17 06:00
MHDA- 2019/05/17 06:01
PMCR- 2020/04/01
CRDT- 2019/05/17 06:00
PHST- 2019/01/24 00:00 [received]
PHST- 2019/03/19 00:00 [accepted]
PHST- 2019/05/17 06:00 [entrez]
PHST- 2019/05/17 06:00 [pubmed]
PHST- 2019/05/17 06:01 [medline]
PHST- 2020/04/01 00:00 [pmc-release]
AID - 827 [pii]
AID - 10.1007/s12291-019-00827-y [doi]
PST - ppublish
SO  - Indian J Clin Biochem. 2019 Apr;34(2):133-142. doi: 10.1007/s12291-019-00827-y. 
      Epub 2019 Apr 5.