Speaker Biography

Mamta Sumi


Introduction: The influence of ESR1 gene -397T>C polymorphism on the risk of development of coronary artery disease (CAD) in north Indian population was analysed. We hypothesized that this polymorphism may influence the susceptibility to CAD through variation in ERα expression. To examine this concept, we evaluated ERα mRNA expression in peripheral blood leucocytes of CAD patients.

Methodology: The study included hundred angiographically confirmed CAD patients and hundred age and sex matched control subjects. The ERα polymorphisms were investigated by PCR-RFLP. Quantitative Real Time PCR was carried out for the measurement of ERα mRNA expression.

Results: The frequencies of mutant homozygous (CC) and heterozygous (TC) genotypes of ESR1 -397T>C gene polymorphism significantly higher in CAD patients than control subjects. A significantly increased CAD risk was observed in dominant and codominant inheritance models for this polymorphism. The ESR1 mRNA expression was highest in CAD patients with wild type homozygous TT genotype (2-∆ct =0.28 ). A significant mutant ‘C’ allele, dose dependent, fall  in ESR1 mRNA expression was observed with lowest expression in mutant homozygous CC genotype (2-∆ct=0.09 ), and intermediate level of expression in heterozygous TC genotype (2-∆ct=0.14) subgroups of CAD patients.

Conclusions: In conclusion, this study demonstrates a significantly heightened risk of CAD associated with the inheritance of mutant genotypes of ESR1 -397T>C gene polymorphisms. This is the first report of a lowered ERα expression in conjunction with the presence of mutant ‘C’ allele of ESR1 -397T>C polymorphism with associated increased susceptibility to CAD.