Correlation Between Estrogen Receptor α Gene Polymorphism (c454-397T>C) with Serum Estradiol Levels and Known Risk...

Area of Science:

• Genetics
• Cardiology
• Endocrinology

Background:

• Myocardial infarction (MI) is a leading cause of cardiac failure and mortality.
• Estrogen receptor-α (ESR1) gene variants may influence cardiovascular disease risk.

Purpose of the Study:

• To investigate the association of ESR1 gene polymorphism c454-397T>C with serum estradiol levels and dyslipidemia in MI patients.
• To evaluate the role of this polymorphism as a genetic risk factor for MI.

Main Methods:

• Genotyping of ESR1 c454-397T>C polymorphism using PCR-RFLP.
• Quantification of serum estradiol levels using Access Sensitive Estradiol assay.
• Analysis of lipid profiles, including HDL, in 220 MI patients (35-70 years).

Main Results:

• TC heterozygote genotype showed increased MI risk in both men (OR 10.66) and women (OR 16.57).
• The C allele increased MI risk by 25% in men and 24% in women (p<0.0001).
• Men with MI had significantly higher estradiol levels than controls and women; TC and CC genotypes were associated with higher HDL levels in men.

Conclusions:

• The ESR1 c454-397T>C polymorphism, particularly the TC heterozygote, is a significant genetic risk factor for MI in the South Indian population.
• This polymorphism influences serum estradiol levels and lipid profiles, contributing to MI pathogenesis.