Key result
ESR1 polymorphisms (rs2234693 and rs9340799) had no significant association with heart rate variability, aerobic capacity, or serum lipid profiles in healthy young women.
Why the study?
Do ESR1 gene polymorphisms influence cardiorespiratory and metabolic variables in healthy young women?
Cross-Sectional (n=354)
No
Do ESR1 gene polymorphisms influence cardiorespiratory and metabolic variables in healthy young women?
ESR1 variants are not associated with cardiorespiratory or metabolic variables in healthy young women, indicating they may not directly contribute to early cardiovascular risk via these pathways.
Answers are grounded in this paper and cite their sources.
ESR1 genotyping offers no clinical utility for cardiorespiratory assessment in young women; leaves open associations in older or diseased cohorts.
This study examined the association of estrogen receptor alpha gene (ESR1) polymorphisms with cardiorespiratory and metabolic parameters in young women. In total, 354 healthy women were selected for cardiopulmonary exercise testing and short-term heart rate (HR) variability (HRV) evaluation. The HRV analysis was determined by the temporal indices rMSSD (square root of the mean squared differences of successive R-R intervals (RRi) divided by the number of RRi minus one), SDNN (root mean square of differences from mean RRi, divided by the number of RRi) and power spectrum components by low frequency (LF), high frequency (HF) and LF/HF ratio. Blood samples were obtained for serum lipids, estradiol and DNA extraction. ESR1 rs2234693 and rs9340799 polymorphisms were analyzed by PCR and fragment restriction analysis. HR and oxygen uptake (VO(2)) values did not differ between the ESR1 polymorphisms with respect to autonomic modulation. We not find a relationship between ESR1 T-A, T-G, C-A and C-G haplotypes and cardiorespiratory and metabolic variables. Multiple linear regression analysis demonstrated that VO(2), total cholesterol and triglycerides influence HRV (p < 0.05). The results suggest that ESR1 variants have no effect on cardiorespiratory and metabolic variables, while HRV indices are influenced by aerobic capacity and lipids in healthy women.
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Rebelo et al. (2012) conducted a cross-sectional in Healthy (n=354). Estrogen receptor alpha gene (ESR1) rs2234693 and rs9340799 polymorphisms vs. Other ESR1 genotypes/haplotypes was evaluated on Cardiorespiratory (VO2), short-term heart rate variability (HRV), and metabolic (serum lipids) parameters. ESR1 polymorphisms (rs2234693 and rs9340799) had no significant association with heart rate variability, aerobic capacity, or serum lipid profiles in healthy young women.
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