The relationship of estrogen receptor-α polymorphism with symptoms and other characteristics in post-menopausal women

Malacara, Juan Manuel; Pérez-Luque, Elva; Martı́nez-Garza, Sandra; Sánchez-Marín, Francisco J.

doi:10.1016/j.maturitas.2004.01.002

Cited by 55 publications

(39 citation statements)

References 19 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…A previous study showed an association of polymorphisms in ERα with hot flashes [8]. Our previous study showed an association between a polymorphism in CYP1B1 and hot flashes [5], although two subsequent studies did not observe this association in other populations [38,39].…”

Section: Discussionmentioning

confidence: 66%

“…For example, polymorphisms in estrogen receptor-α (ERα) have been associated with low response of tissues to estrogen, as well as the risk of hot flashes [8]. In addition, a polymorphism in an estrogen metabolizing enzyme, cytochrome P450 1B1 (CYP1B1), was found to be associated with the severity, frequency, and duration of hot flashes [5].…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Genetic polymorphisms, hormone levels, and hot flashes in midlife women

et al. 2007

View full text Add to dashboard Cite

Objective-Hot flashes disrupt the lives of millions of women each year. Although hot flashes are a public health concern, little is known about risk factors that predispose women to hot flashes. Thus, the objective of this study was to examine whether sex steroid hormone levels and genetic polymorphisms in hormone biosynthesis and degradation enzymes are associated with the risk of hot flashes.Methods-In a cross-sectional study design, midlife women aged 45 to 54 years (n=639) were recruited from Baltimore and its surrounding counties. Participants completed a questionnaire and donated a blood sample for steroid hormone analysis and genotyping. The associations between genetic polymorphisms and hormone levels, as well as the associations between genetic polymorphisms, hormone levels, and hot flashes were examined using statistical models.Results-A polymorphism in CYP1B1 was associated with lower dehydroepiandrosterone-sulfate (DHEA-S) and progesterone levels, while a polymorphism in CYP19 (aromatase) was associated with higher testosterone and DHEA-S levels. Lower progesterone and sex hormone binding globulin levels, lower free estradiol index, and a higher ratio of total androgens to total estrogens were associated with the experiencing of hot flashes. A polymorphism in CYP1B1 and a polymorphism in 3βHSD were both associated with hot flashes.Conclusion-Some genetic polymorphisms may be associated with altered levels of hormones in midlife women. Further, selected genetic polymorphisms and altered hormone levels may be associated with the risk of hot flashes in midlife women.

show abstract

Section: Discussionmentioning

confidence: 66%

Section: Introductionmentioning

confidence: 99%

Genetic polymorphisms, hormone levels, and hot flashes in midlife women

et al. 2007

View full text Add to dashboard Cite

show abstract

“…The G and C alleles respectively have been associated with higher gene expression (Alonso et al, 2011), and increased serum estrogen levels Sowers et al, 2006), although not consistently (Malacara et al, 2004;Yaffe et al, 2009). In a similar manner, one or both alleles have also been associated with more favourable estrogen-dependent outcomes such as higher bone mass density and lower fractures (Ioannidis et al, 2002)), and a decreased risk of cognitive impairment (Yaffe et al, 2002), Alzheimer's disease (Monastero et al, 2006), phobia (Ryan et al, 2011b), general anxiety (Tiemeier et al, 2005) and cardiovascular disease .…”

Section: Discussionmentioning

confidence: 99%

“…Two ESR1 SNPs located at position 397 and 351 of intron 1 were examined, rs9340799 and rs2234693 respectively. These SNPs were chosen for because: 1/ they have shown potential causal associations with other estrogen-dependent health outcomes, including Alzheimer's disease (Corbo et al, 2006), cognitive function (Yaffe et al, 2002), cardiovascular disease (Herrington et al, 2002;Shearman et al, 2003), osteoporosis (Ioannidis et al, 2002), breast cancer (Kjaergaard et al, 2007;Slattery et al, 2007) and vasomotor symptoms (Malacara et al, 2004); 2/ we have previously demonstrated significant associations between these ESR1 polymorphisms and depressive symptoms in older women (Ryan et al, 2011a); 3/ there is evidence that these polymorphisms are functional as they regulate ESR1 expression (Alonso et al, 2011;Herrington et al, 2002;Maruyama et al, 2000) and have shown some association serum estradiol levels Sowers et al, 2006).…”

Section: Methodsmentioning

confidence: 99%

Estrogen receptor alpha gene variants and major depressive episodes

Ryan

Scali

Carrière

et al. 2012

Journal of Affective Disorders

View full text Add to dashboard Cite

Background: Despite evidence of estrogen's mood-enhancing effects, the association between estrogen receptor (ER) gene variants and lifetime major depression has been insufficiently studied.Methods: 3987 community-dwelling women aged 65 years and over were recruited in France as part of the Three City Study. Current and past major depressive disorders (MDD) were diagnosed using the Mini-International Neuropsychiatry Interview, according to DSM-IV criteria. The association between two common estrogen receptor alpha (ESR1) polymorphisms with lifetime MDD was examined using adjusted logistic regression models, taking into account the age at first depressive episode and the recurrence of depression.Results: Women homozygous for the variant G allele of ESR1 rs9340799 had a 1.6-fold increased risk of MDD across their lifetime compared with women who were homozygous for the A allele (p=0.009). There was a similar non-significant trend for the C allele of rs2234693 being associated with an increased risk (p=0.09). Polytomous regression analysis further indicated that the GG genotype of rs9340799 was specifically associated with an increased risk of recurrent depressive episodes, regardless of the age at first onset of depression relative to the menopause. Limitations:The duration and severity of depressive episodes was not considered in the analysis.Conclusions: This is the first study to examine the association between ESR1 gene variants and lifetime MDD. Our findings indicate a significant association between common variants and the risk of recurrent depressive episodes. This suggests that certain depressed women could be most responsive to hormone-based treatment.

show abstract

“…In a cross-sectional study, Malacara et al 44 found a weak association between a polymorphism in the ESR1 gene and HFs, and Crandall et al, 45 in their longitudinal prospective study, found no association between ESR1 (rs2234693 PvuII) and VMS. Additionally, Sowers et al, 46 after a longitudinal prospective study, indicated that women with a genetic polymorphism in the ESR1 gene may have a greater likelihood for more advanced ovarian aging than other women, suggesting a possible role of the polymorphism in the timing of the menopausal stages.…”

Section: Genetic Polymorphismsmentioning

confidence: 94%

Factors That May Influence the Experience of Hot Flushes by Healthy Middle-Aged Women

Ziv‐Gal¹,

Flaws

2010

Journal of Women's Health

View full text Add to dashboard Cite

Background: Interest in menopausal symptoms in general and hot flushes (HFs) in particular has grown in recent years. This is mostly due to increased awareness and the vast impact these symptoms have on women's lives. Despite the high prevalence of women who experience HFs, a definitive etiology for HFs is yet to be found. Our objective was to review the current literature dealing with associated factors for experiencing HFs and to provide a synthesized overview on this common and often debilitating condition. Methods: We systematically searched the English-language literature in the PubMed database using relevant key words and included only those articles that contained information on associated factors for HFs in generally healthy midlife women. Results: Both conflicting scientific results between studies documenting factors that influence HFs and the lack of validated measuring tools make it difficult to truly pinpoint associated factors for HFs. Nonetheless, we identified the following clusters of associated factors: the menopausal stages, sex steroid hormones, other endocrine agents, genetic polymorphisms, race=ethnicity, body mass index (BMI) and obesity, mood disorders, smoking, soy isoflavones and phytoestrogens, alcohol consumption, and physical activity. Conclusions: No single associated factor was consistently identified as having a major role in experiencing HFs. More resources should be directed to develop a unified study system along with multivariable analyses to get a better understanding of this condition, which often imposes a tremendous social and personal toll on the women who experience it.

show abstract

The relationship of estrogen receptor-α polymorphism with symptoms and other characteristics in post-menopausal women

Cited by 55 publications

References 19 publications

Genetic polymorphisms, hormone levels, and hot flashes in midlife women

Genetic polymorphisms, hormone levels, and hot flashes in midlife women

Estrogen receptor alpha gene variants and major depressive episodes

Factors That May Influence the Experience of Hot Flushes by Healthy Middle-Aged Women

Contact Info

Product

Resources

About