Association of an estrogen receptor-alpha gene polymorphism with left ventricular mass

Background. The development of left ventricular hypertrophy (LVH) is influenced by gender and by sex hormones including estrogens. This study hypothesized that genetic variation in the TA repeat regulatory region of the estrogen receptor alpha gene (ESR1) is related to left ventricular mass. Methods. Consecutive patients undergoing coronary angiography with echocardiographic studies were studied. The length of the dinucleotide repeat thymine and adenine (TA) upstream of exon 1 in the ESR1 gene was determined. The mean number of TA repeats (n=18) categorized the subjects into long, short and mixed allele genotypes. Results. Ninety-two patients (mean age 60.3 +/- 12.6 years, 63 males, 29 females) were entered into the study. When LV mass indexed to body surface area was examined in the three genotype groups, a significant difference between the groups was noted with lower LV mass in the short allele group (p < 0.03). When the short allele group was compared with subjects with at least one long allele, a highly significant difference in left ventricular mass index was noted (86.9 g/m(2) vs 101.3 g/m(2), p < 0.009). Conclusion. The ESR1 TA repeat polymorphism may influence left ventricular mass. Patients with at least one long allele exhibit a tendency to higher LV mass.