Estrogen receptor beta gene +1730 G/A polymorphism in women with polycystic ovary syndrome

Kim, Jin Ju; Choi, Young Min; Choung, Seon Ha; Yoon, Sang Ho; Lee, Gyoung Hoon; Moon, Shin Yong

doi:10.1016/j.fertnstert.2008.12.040

Cited by 25 publications

(16 citation statements)

References 34 publications

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“…The genotype distributions of the ESR1 and ESR2 gene polymorphisms are reported to differ among racial and ethnic groups (21,22,24,26). Nevertheless, in our study and in previous studies carried out in Japanese RA patients, polymorphisms in the ESR1 gene correlated significantly with age at RA onset.…”

Section: Discussioncontrasting

confidence: 81%

“…The XbaI and PvuII polymorphisms are located in the first intron of the ESR1 gene, 397 and 351 base pairs upstream of exon 2, respectively (21,22). The ESR2 gene is located on chromosome 14q22-24 (23,24). In the ESR2 gene, two common polymorphisms have been investigated: rs4986938:G>A, located in the 3′ UTR region, and the synonymous rs1256049:G>A (Val328Val) in exon 6 (24,25).…”

mentioning

confidence: 99%

“…The ESR2 gene is located on chromosome 14q22-24 (23,24). In the ESR2 gene, two common polymorphisms have been investigated: rs4986938:G>A, located in the 3′ UTR region, and the synonymous rs1256049:G>A (Val328Val) in exon 6 (24,25). Until now, only a few studies have investigated ESR polymorphisms in RA patients (26)(27)(28).…”

mentioning

confidence: 99%

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Oestrogen receptor polymorphisms in female patients with rheumatoid arthritis

Dziedziejko¹,

Kurzawski²,

Safranow³

et al. 2011

Scandinavian Journal of Rheumatology

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Section: Discussioncontrasting

confidence: 81%

mentioning

confidence: 99%

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Oestrogen receptor polymorphisms in female patients with rheumatoid arthritis

Dziedziejko¹,

Kurzawski²,

Safranow³

et al. 2011

Scandinavian Journal of Rheumatology

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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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“…ERβ is encoded by estrogen receptor β ( ESR2 ) gene, which is located on chromosome 14q23.2 and covers a genomic region of 111.5 kb [19]. Several ESR2 genetic variants have been investigated, including rs1256049 in exon 5, which causes a synonymous change of unknown functional significance, and rs4986938, which is located in the 3′-untranslated region of the ESR2 gene [20,21]. Both rs1256049 and rs4986938 have been associated with a number of diseases, including breast cancer, endometrial cancer, prostate cancer, reduced bone mineral density, and cardiovascular disease [22-28].…”

Section: Introductionmentioning

confidence: 99%

Association of estrogen receptor betavariants and serum levels of estradiol with risk of colorectal cancer: a case control study

Chen

et al. 2012

BMC Cancer

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BackgroundEndogenous estrogens may play a vital role in colorectal tumorigenesis. Estrogen receptor beta is the predominant subtype which mediates the biological effect of estrogens, while loss of expression of estrogen receptor beta has been indicated as a common step in the development of colorectal cancer (CRC). Epidemiological studies have revealed several functional polymorphisms of estrogen receptor beta (ESR2) for cancer risk, but relevant study in CRC is limited, particularly in men. This study aimed to investigate the association of circulating estradiol and variations of ESR2 with CRC risk in men.MethodsWe initiated a case–control study consisting of 390 patients with CRC and 445 healthy controls in men only. We genotyped ESR2 single nucleotide polymorphisms (SNPs) rs1256049 and rs4986938 and measured serum estradiol concentration using chemilluminescence immunoassay. Multivariable logistic regression model was performed to evaluate the associations between these variables and CRC risk.ResultsESR2 rs1256049 CT/TT genotypes were associated with reduced risk of CRC (odds ratio [OR], 0.7, 95% confidence interval [CI], 0.5–1.0), while rs4986938 CT/TT genotypes were associated with increased risk of CRC (OR, 1.5, 95% CI, 1.0–2.1). In addition, the CRC risk increased with the number of risk genotypes of these two SNPs in a dose–response manner (Ptrend, 0.003). Specifically, subjects carrying risk genotypes of both SNPs had the highest risk of CRC (OR, 2.0, 95% CI, 1.3–3.3.). Moreover, serum estradiol concentration alone was associated with risk of CRC in men (OR, 1.2, 95% CI, 1.0–1.3). However, individuals presenting both rs4986938 CT/TT genotypes and high level of serum estradiol had a high risk of CRC (OR, 2.3, 95% CI, 1.4–3.9), compared with those presenting CC genotype and low level of serum estradiol. The similar joint results were not observed for SNP rs1256049.ConclusionsThese results suggest that endogenous estrogen and genetic variations in ESR2 may individually, or more likely jointly, affect CRC risk in male Han Chinese population, while larger studies are needed to validate our findings.

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Estrogen receptor beta gene +1730 G/A polymorphism in women with polycystic ovary syndrome

Cited by 25 publications

References 34 publications

Oestrogen receptor polymorphisms in female patients with rheumatoid arthritis

Oestrogen receptor polymorphisms in female patients with rheumatoid arthritis

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

Association of estrogen receptor betavariants and serum levels of estradiol with risk of colorectal cancer: a case control study

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