RGD Reference Report - Association of estrogen receptor beta gene polymorphisms with left ventricular mass and wall thickness in women. - Rat Genome Database

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Association of estrogen receptor beta gene polymorphisms with left ventricular mass and wall thickness in women.

Authors: Peter, I  Shearman, AM  Vasan, RS  Zucker, DR  Schmid, CH  Demissie, S  Cupples, LA  Kuvin, JT  Karas, RH  Mendelsohn, ME  Housman, DE  Benjamin, EJ 
Citation: Peter I, etal., Am J Hypertens. 2005 Nov;18(11):1388-95.
RGD ID: 1581013
Pubmed: PMID:16280269   (View Abstract at PubMed)
DOI: DOI:10.1016/j.amjhyper.2005.05.023   (Journal Full-text)

BACKGROUND: Left ventricular (LV) hypertrophy is a significant risk factor for cardiovascular disease. Given sex-based differences in cardiac structure and remodeling, we hypothesized that variation in estrogen pathway genes might be associated with alteration of LV structure. METHODS: We studied 1249 unrelated individuals, 547 men and 702 women (mean age 59 years) from the Framingham Heart Study. Eight single nucleotide polymorphisms in the genes for estrogen receptor alpha and estrogen receptor beta (ESR2) 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 = .0007 to .03); the association was most pronounced in those women with hypertension (P = .0006 to .01). The association did not appear to be explained by variation in blood pressure, plasma lipoprotein levels, or hyperglycemia. CONCLUSIONS: The 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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Left Ventricular Hypertrophy  IAGP 1581013 RGD 
Left Ventricular Hypertrophy  ISOESR2 (Homo sapiens)1581013 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Esr2  (estrogen receptor 2)

Genes (Homo sapiens)
ESR2  (estrogen receptor 2)


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