Association Between Estrogen Receptor ?? Gene Variation and Cardiovascular Disease

Shearman, Amanda M.; Cupples, L. Adrienne; Demissie, Serkalem; Peter, Inga; Schmid, Christopher H.; Karas, Richard H.; Mendelsohn, Michael E.; Housman, David E.; Levy, Daniel

doi:10.1097/00006254-200406000-00022

Cited by 58 publications

(89 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…14,15 The level of estrogen receptor in the cytosol of peripheral blood mononuclear cells is significantly lower in asymptomatic HBV carriers and patients with chronic hepatitis than in healthy controls, and administration of IFN-␣ increases its level in a dose-dependent manner in vitro and in vivo. 16,17 Together with the genetic effect of ESR1 polymorphism on several other clinical phenotypes, including breast cancer, 33 bone mineral density, 34 hypertension, 35 lipid levels, 36 coronary atherosclerosis, 37,38 and spontaneous abortion, 39 these illustrate the pleiotropic nature of the ESR1 protein. The estrogen/estrogen receptors axis can be simultaneously involved in several different metabolic pathways, including the reproductive system, bone, cardiovascular function, immune regulation, 40,41 liver function, 42,43 and HBV replication.…”

Section: Discussionmentioning

confidence: 99%

Association of estrogen receptor ? polymorphisms with susceptibility to chronic hepatitis B virus infection

Deng¹,

Zhou²,

Zhai³

et al. 2004

Hepatology

View full text Add to dashboard Cite

Several studies have demonstrated that estrogen receptor ␣ (ESR1) participates in the pathogenesis of persistent hepatitis B virus (HBV) infection. To examine whether polymorphisms at the ESR1 gene locus are associated with persistent HBV infection, we resequenced ESR1 genomic region for single nucleotide polymorphisms (SNPs) in 27 unrelated Chinese. Two haplotypetagged SNPs (htSNP), T29C and A252966G, were selected for genotyping in 1,277 persistent HBV-infected cases, 748 spontaneously recovered controls, and 293 nuclear families using polymerase chain reaction (PCR)-restriction fragment length polymorphism (PCR-RFLP) analysis. We observed that the subjects bearing ESR1 29T/T genotype had an increased susceptibility to persistent HBV infection compared to those bearing at least one 29C allele (odds ratio 1.41; 95% CI, 1.17-1.71, P < .001). Consistent with the results of population-based association study, a significantly greater than expected transmission of the 29T allele (56.4%) from heterozygous parents to offspring with persistent HBV infection was observed ( 2 ‫؍‬ 4.60, P ‫؍‬ .033) using the transmission-disequilibrium test (TDT) in 293 nuclear families. Linkage disequilibrium (LD) mapping analysis indicated that the T29C polymorphism contained within a LD block located from promoter region to intron 3 of ESR1, suggesting that the strong association detected with T29C in ESR1 originated from ESR1 itself. In conclusion, our results suggest that the genetic variation at the ESR1 locus influences susceptibility to persistent HBV infection in a Chinese population. (HEPATOLOGY 2004;40:318 -326.)

show abstract

Section: Discussionmentioning

confidence: 99%

Association of estrogen receptor ? polymorphisms with susceptibility to chronic hepatitis B virus infection

Deng¹,

Zhou²,

Zhai³

et al. 2004

Hepatology

View full text Add to dashboard Cite

show abstract

“…Three large, well-designed and well-implemented studies were published with apparent contradictory results in relation to ESR1 IVS1-397T>C polymorphism and myocardial infarction (9)(10)(11). In relation to ESR1 IVS1-397T>C polymorphism and lipid levels, Demissie et al (12) demonstrated an association between IVS1-397T>C polymorphism T/T genotype and LDL-C particle size reduction in women from the Framingham Heart Study.…”

Section: Discussionmentioning

confidence: 99%

Estrogen receptor 1 gene polymorphisms in premenopausal women: interaction between genotype and smoking on lipid levels

Almeida

Hutz

2008

Braz J Med Biol Res

View full text Add to dashboard Cite

Estrogen has multiple effects on lipid and lipoprotein metabolism. We investigated the association between the four common single nucleotide polymorphisms in the estrogen receptor 1 (ESR1) gene locus, -1989T>G, +261G>C, IVS1-397T>C and IVS1-351A>G, and lipid and lipoprotein levels in southern Brazilians. The sample consisted in 150 men and 187 premenopausal women. The women were considered premenopausal if they had regular menstrual bleeding within the previous 3 months and were 18-50 years of age. Exclusion criteria were pregnancy, secondary hyperlipidemia due to renal, hepatic or thyroid disease, and diabetes. Smoking status was self-reported; subjects were classified as never smoked and current smokers. DNA was amplified by PCR and was subsequently digested with the appropriate restriction enzymes. Statistical analysis was carried out for men and women separately. In the study population, major allele frequencies were -1989*T (0.83), +261*G (0.96), IVS1-397 *T (0.58), and IVS1-351*A (0.65). Multiple linear regression analyses indicated that an interaction between +261G>C polymorphism and smoking was a significant factor affecting high-density lipoprotein cholesterol (HDL-C) levels (P = 0.028) in women. Nonsmoking women with genotype G/C of +261G>C polymorphism had mean HDL-C levels higher than those with G/ G genotype (1.40 ± 0.33 vs 1.22 ± 0.26 mmol/L; P = 0.033). No significant associations with lipid and lipoprotein levels in women and men were detected for other polymorphisms. In conclusion, the +261G>C polymorphism might influence lipoprotein and lipid levels in premenopausal women, but these effects seem to be modulated by smoking, whereas in men ESR1 polymorphisms were not associated with high lipoprotein levels.

show abstract

“…26 Other studies have also shown associations between ESR1 polymorphisms and lipid levels, CVD disease or some vessels' angiographic complications. [27][28][29][30][31][32] Table 1 Total cholesterol, LDL-C, HDL-C and triglyceride means according to the 1082G4A genotype in premenopausal, postmenopausal HRT users and postmenopausal HRT nonusers…”

Section: Discussionmentioning

confidence: 99%

Estrogen receptor 2 and progesterone receptor gene polymorphisms and lipid levels in women with different hormonal status

et al. 2004

View full text Add to dashboard Cite

Sex steroid hormones have multiple effects on lipid metabolism. We investigated the association between two common single nucleotide polymorphisms of the estrogen receptor 2 gene (ESR2), 1082G4A and 1730A4G, and PROGINS polymorphism of the progesterone receptor gene (PGR) with lipoprotein levels in a cross-sectional study with 472 women of European descent. The women were classified into three subgroups according to hormonal status, premenopausal women (n ¼ 187; mean age ¼ 3479.7 years), postmenopausal women exposed to hormone replacement therapy (HRT) (n ¼ 118; 5676.7 years) and postmenopausal women unexposed to HRT (n ¼ 167; 5879.8 years). The premenopausal and postmenopausal women exposed to HRT, both carriers of G/A genotype, exhibited LDL-C (P ¼ 0.027 and 0.001, respectively) and T-chol levels (P ¼ 0.035 and 0.001, respectively) lower than carriers of G/G genotype. This association was not observed in postmenopausal women unexposed to HRT. These results suggest that ESR2 1082G4A genotype may influence LDL-C levels in women with abundant estrogen levels, due to either endogenous or exogenous sources. INTRODUCTIONEndogenous and exogenous sex steroid hormones have multiple effects on lipid and lipoprotein metabolism. The oral estrogen replacement therapy (ERT) in postmenopausal women decreases serum total cholesterol (T-chol) and lowdensity lipoprotein cholesterol (LDL-C) concentrations, as well as increases serum high-density lipoprotein cholesterol (HDL-C) and triglyceride (TG) levels. 1 The effects of combined (estrogen plus progestin) hormone replacement therapy (HRT) are uncertain; the addition of a progestogen to estrogens tends to attenuate the increase in serum HDL-C and the decrease in LDL-C, obtained with ERT, although this effect seems to be related to the dose and to androgenic potency of the progestogen. 2 The beneficial changes in these lipoproteins should be associated with at least 30-35% decline in coronary heart disease (CHD) incidence. 3 However, the results from the Heart and Estrogen/Progestin Replacement Study (HERS) 4 and the Women's Health Initiative (WHI) trial 5 demonstrated that oral HRT does not provide cardiovascular benefit or even some evidence of cardiovascular harm.

show abstract

Association Between Estrogen Receptor ?? Gene Variation and Cardiovascular Disease

Cited by 58 publications

References 0 publications

Association of estrogen receptor ? polymorphisms with susceptibility to chronic hepatitis B virus infection

Association of estrogen receptor ? polymorphisms with susceptibility to chronic hepatitis B virus infection

Estrogen receptor 1 gene polymorphisms in premenopausal women: interaction between genotype and smoking on lipid levels

Estrogen receptor 2 and progesterone receptor gene polymorphisms and lipid levels in women with different hormonal status

Contact Info

Product

Resources

About