Download Association of Estrogen Receptor β Gene Polymorphisms with Left

Poster No. 70
Title:
Association of Estrogen Receptor β Gene Polymorphisms with Left Ventricular Mass and Wall Thickness
in Women
Authors:
Inga Peter, Amanda Shearman, Ramachandran Vasan, Deborah Zucker, Christopher Schmid,
Serkalem Demissie, L. Adrienne Cupples, Jeffrey Kuvin, Richard Karas, Michael Mendelsohn,
David Housman, Emelia Benjamin
Presented by:
Inga Peter
Department(s):
Biostatistics Research Center, Institute of Clinical Research and Health Policy Studies, Molecular
Cardiology Research Institute and Department of Medicine, Tufts–New England Medical Center;
Massachusetts Institute of Technology, “Boston University School of Public Health,” Framingham Heart
Study
Abstract:
Background: Left ventricular hypertrophy is a significant risk factor for cardiovascular disease. Given
sex-based differences in cardiac structure and remodeling, we hypothesized that variation in estrogenpathway genes might be associated with alteration of left ventricular (LV) structure.
Methods: We studied 1249 unrelated individuals, 547 men and 702 women (mean age 59 years) from the
Framingham Heart Study. Twelve single nucleotide polymorphisms in the genes for estrogen receptor α,
estrogen receptor β (ESR2), aromatase, and steroid receptor coactivator 1 were tested for association with
5 LV measures: LV mass (LVM), LV wall thickness (LVWT), LV internal diameter at end-diastole and
end-systole, and fractional shortening. Sex-specific multiple regression analyses were performed adjusting
for age, weight, height, systolic and diastolic blood pressure, hypertension treatment, diabetes, and in
women, menopausal status.
Results: In men, there was no evidence of association between the estrogen-pathway polymorphisms tested
and LV structure or function. In women, however, two polymorphisms, ESR2 rs1256031 and ESR2
rs1256059, in linkage disequilibrium with one another, were associated with LVM and LVWT
(P=0.0007-0.03); the association was most pronounced in those women with hypertension
(P=0.0006-0.01). The association did not appear to be explained by variation in blood pressure, plasma
lipoprotein levels or hyperglycemia.
Conclusions: ESR2 polymorphisms are associated with LV structural differences in women with
hypertension in a community-based population. These data are consistent with the hypothesis that genetic
factors may mediate part of the observed sex-based differences in LV structure and remodeling.
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