Polymorphisms in the promoter region of ESR2 gene and breast cancer susceptibility

Treeck, Oliver; Elemenler, E.; Kriener, C; Horn, F.; Springwald, Anette; Hartmann, Arndt; Ortmann, O.

doi:10.1016/j.jsbmb.2009.02.012

Cited by 21 publications

(17 citation statements)

References 46 publications

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“…Polymorphisms or haplotypes in ESR2 have been associated with an increased risk for a number of estrogen-related disorders, including osteoporosis [47,48,49,50,51], breast cancer, ovarian cancer [52,53,54,55,56,57,58,59,60] and polycystic ovarian disease [61]. ER-β is found in high concentrations in the hippocampus [51], and its activation has been linked to synaptic plasticity and hippocampal-dependent cognition [13,62].…”

Section: Discussionmentioning

confidence: 99%

Estrogen Receptor-Beta Variants Are Associated with Increased Risk of Alzheimer’s Disease in Women with Down Syndrome

Zhao¹,

Lee²,

Pang

et al. 2011

Dement Geriatr Cogn Disord

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Background/Aims: Genetic variants that affect estrogen activity may influence the risk of Alzheimer’s disease (AD). We examined the relation of polymorphisms in the gene for the estrogen receptor-beta (ESR2) to the risk of AD in women with Down syndrome. Methods: Two hundred and forty-nine women with Down syndrome, 31–70 years of age and nondemented at baseline, were followed at 14- to 18-month intervals for 4 years. Women were genotyped for 13 single-nucleotide polymorphisms (SNPs) in the ESR2 gene, and their association with AD incidence was examined. Results: Among postmenopausal women, we found a 2-fold increase in the risk of AD for women carrying 1 or 2 copies of the minor allele at 3 SNPs in introns seven (rs17766755) and six (rs4365213 and rs12435857) and 1 SNP in intron eight (rs4986938) of ESR2. Conclusion: These findings support a role for estrogen and its major brain receptors in modulating susceptibility to AD in women.

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Section: Discussionmentioning

confidence: 99%

Estrogen Receptor-Beta Variants Are Associated with Increased Risk of Alzheimer’s Disease in Women with Down Syndrome

Zhao¹,

Lee²,

Pang

et al. 2011

Dement Geriatr Cogn Disord

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“…Women with sporadic breast cancer more frequently (odds ratio (OR) = 1.99) carry the CC genotype of ER β promoter SNP rs2987983 (Treeck et al 2009). A large cohort examining four htSNPs that tag the six major haploytpes of ER β demonstrated that the inherited variants in ER β are not associated with an appreciable (OR > 1.2) change in breast cancer risk in Caucasian women (Cox et al 2008).…”

Section: Breast Cancer and Ermentioning

confidence: 99%

Estrogen receptors and human disease: an update

2012

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A myriad of physiological processes in mammals are influenced by estrogens and the estrogen receptors (ERs), ERα and ERβ. As we reviewed previously, given the widespread role for estrogen in normal human physiology, it is not surprising that estrogen is implicated in the development or progression of a number of diseases. In this review, we are giving a 5-year update of the literature regarding the influence of estrogens on a number of human cancers (breast, ovarian, colorectal, prostate, and endometrial), endometriosis, fibroids, and cardiovascular disease. A large number of sophisticated experimental studies have provided insights into human disease, but for this review, the literature citations were limited to articles published after our previous review (Deroo and Korach in J Clin Invest 116(3):561–570, 2006) and will focus in most cases on human data and clinical trials. We will describe the influence in which estrogen’s action, through one of or both of the ERs, mediates the aforementioned human disease states.

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“…We identified 13 eligible studies for systematic review [16][17][18][19][20][21][22][23][24][25][26][27][28] (Table 1). One study consisting of 1,011 cases and 615 controls provided ORs of haplotypes but not ORs of single polymorphisms [18].…”

Section: Systematic Reviewmentioning

confidence: 99%

“…In this systematic review, the associations that had been reported as significant by at least one study were discussed below. Regarding the overall risk estimate, three genetic variants had showed significant relationships with breast cancer in four studies [22][23][24]26]; rs4986938 was reported twice [23,26]. In the Breast and Prostate Cancer Cohort Consortium (BPC3) study [23] with the largest sample size, the investigators indicated that the A-allele carriers had a decrease in breast cancer risk (OR = 0.93, 95% CI 0.86-0.99), though the trend P value of unadjusted logistic regression did not reach significance.…”

Section: Systematic Reviewmentioning

confidence: 99%

“…In another study, Surekha et al [26] found that India women harboring the A allele of rs4986938 also had a reduced risk for breast cancer (OR = 0.41, 95% CI 0.16-0.95). Treeck et al [24] found a significantly increased risk of breast cancer in variant carriers of SNP rs2987983 in Caucasian women (OR = 1.99, 95% CI 1.23-3.23); Tsezou et al [22] revealed an association between microsatellite (CA)n and breast cancer in Greek women (OR = 0.010, 95% CI 0.003-0.036; adjusted OR = 0.002, 95% CI 0.000-0.022). An additional study reported by Maguire et al [19] implied that rs1256049 might decrease the breast cancer risk in Sweden women with a borderline significance (OR = 0.63, 95% CI 0.37-1.07).…”

Section: Systematic Reviewmentioning

confidence: 99%

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A systematic review of the relationship between polymorphic sites in the estrogen receptor-beta (ESR2) gene and breast cancer risk

Rao

Chen

et al. 2010

Breast Cancer Res Treat

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The estrogen signal is mediated by the estrogen receptor (ER). The specific role of ER-beta, a second ER, in breast carcinogenesis is not known. A number of association studies have been carried out to investigate the relationship between polymorphic sites in the ESR2 gene and breast cancer risk, however, the results are inconsistent. We searched PubMed, Medline, and Web of Science database (updated to 10 January 2010) and identified 13 relevant case-control studies, and approximately 28 single-nucleotide polymorphisms (SNPs) and one micro-satellite marker were reported in the literature. The median number of study subjects was 776 (range 158-13,550). Three genetic variants [(CA)n, rs2987983, and rs4986938] showed significant overall associations with breast cancer, and rs4986938 was reported twice. Because rs4986938 and rs1256049 were the most extensively studied polymorphisms, we subsequently conducted a meta-analysis to evaluate their relationship with breast cancer risk (9 studies of 10,837 cases and 16,021 controls for rs4986938; 8 studies of 11,652 cases and 15,726 controls for rs1256049). For rs4986938, the women harboring variant allele seemed to be associated with a decreased risk either in the dominant model [pooled OR = 0.944, 95% confidence interval (95% CI) 0.897-0.993, fixed-effects] or in the co-dominant model (AG vs. GG) (OR = 0.944, 95% CI 0.895-0.997, fixed-effects). rs1256049 was not associated with breast cancer risk in any model. Five studies had investigated the effect of haplotypes in the ESR2 gene on breast cancer risk, and four of them had positive outcomes. In summary, the present systematic review suggests that SNP rs4986938 as well as haplotypes in the ESR2 gene might be associated with breast cancer. The need for additional studies examining these issues seems of vital importance.

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Polymorphisms in the promoter region of ESR2 gene and breast cancer susceptibility

Cited by 21 publications

References 46 publications

Estrogen Receptor-Beta Variants Are Associated with Increased Risk of Alzheimer’s Disease in Women with Down Syndrome

Estrogen Receptor-Beta Variants Are Associated with Increased Risk of Alzheimer’s Disease in Women with Down Syndrome

Estrogen receptors and human disease: an update

A systematic review of the relationship between polymorphic sites in the estrogen receptor-beta (ESR2) gene and breast cancer risk

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