Estrogen Receptor 1 (ESR1) genetic variations in cancer risk: A systematic review and meta-analysis

Sun, Huiling; Hou, Jinjun; Shi, Wenbin; Zhang, Lei

doi:10.1016/j.clinre.2014.07.016

Cited by 19 publications

(16 citation statements)

References 42 publications

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“…For rs2234693, Caucasian patients were likely to develop breast cancer in a homozygous model, indicating that the association between rs2234693 and breast cancer risk was stronger in Asians, but not non-correlated in Caucasians as previously reported. Our negative result on rs1801132 also gave a further justification to Zhang et al and Sun et al [31, 74] , but is inconsistent with Li et al [32, 75] , which may be due to its limited sample sizes and different inclusion or exclusion criteria with ours.…”

Section: Discussioncontrasting

confidence: 68%

Association of three single nucleotide polymorphisms of ESR1 with breast cancer susceptibility: a meta-analysis

Hu¹,

Jiang²,

Tang³

et al. 2017

J Biomed Res

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Expression of estrogen receptors is correlated with breast cancer risk, but inconsistent results have been reported. To clarify potential estrogen receptor (ESR)-related breast cancer risk, we analyzed genetic variants of ESR1 in association with breast cancer susceptibility. We performed a meta-analysis to investigate the association between rs2234693, rs1801132, and rs2046210 (single nucleotide polymorphisms of ESR1 ), and breast cancer risk. Our analysis included 44 case-control studies. For rs2234693, the CC genotype had a higher risk of breast cancer compared to the TT or CT genotype. For rs2046210, the AA, GA, or GA+ GG genotype had a much higher risk compared to the GG genotype. No significant association was found for the rs1801132 polymorphism with breast cancer risk. This meta-analysis demonstrates association between the rs2234693 and rs2046210 polymorphisms of ESR1 and breast cancer risk. The correlation strength between rs2234693 and breast cancer susceptibility differs in subgroup assessment by ethnicity.

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Section: Discussioncontrasting

confidence: 68%

Association of three single nucleotide polymorphisms of ESR1 with breast cancer susceptibility: a meta-analysis

Hu¹,

Jiang²,

Tang³

et al. 2017

J Biomed Res

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“…Subgroup analysis indicated that PvuII (rs2234693 T>C) polymorphism was associated with a decreased risk of gallbladder cancer, in contrast with the increased risk of prostate cancer and hepatocellular carcinoma (HCC). They also failed to observe significant association in Asian and Caucasian populations 85 .…”

Section: Discussionmentioning

confidence: 93%

ESR1 PvuII (rs2234693 T>C) polymorphism and cancer susceptibility: Evidence from 80 studies

Liu¹,

Huang²,

Lin³

et al. 2018

J. Cancer

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Emerging epidemiological researches have been performed to assess the association of ESR1 PvuII (rs2234693 T>C) polymorphism with the risk of cancer, yet with conflicting conclusions. Therefore, this updated meta-analysis was performed to make a more accurate evaluation of such relationship. We adopted EMBASE, PubMed, CNKI, and WANFANG database to search relevant literature before January 2018. Odds ratios (ORs) and 95% confidence intervals (CIs) were employed to estimate the relationship strengths. In final, 80 studies (69 publications) involving 26428 cases and 43381 controls were enrolled. Our results failed to provide significant association between overall cancer risk and PvuII polymorphism under homozygous (TT vs. CC) and heterozygous (TT vs. CT) models. Statistically significant relationship was only observed for PvuII polymorphism in allele model T vs. C (OR=0.95, 95% CI=0.91-0.99). Stratification analysis by cancer type suggested that T genotype significantly decreased prostate cancer risk (TT vs. CC: OR=0.79, 95% CI=0.66-0.94; T vs. C: OR=0.89, 95% CI=0.82-0.98), Leiomyoma risk (T vs. C: OR=0.82, 95% CI=0.68-0.98), and HCC risk (TT vs. CC: OR=0.45, 95% CI=0.28-0.71; T vs. C: OR=0.67, 95% CI=0.47-0.95). Furthermore, significantly decreased risk was also found for Africans, population-based and hospital-based studies in the stratified analyses. These results suggest that ESR1 PvuII (rs2234693 T>C) polymorphism may only have little impact on cancer susceptibility. In the future, large-scale epidemical studies are warranted to verify these results.

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“…Many association studies on this gene have been confined to 2 SNPs (originally detected with the restriction enzymes PvuII and XbaI [ 5 ]), which are located in the first intron of ESR1. The ESR1 PvuII and XbaI polymorphisms have been associated to tumorigenesis and many other diseases [ 6 ], involving heterogeneous conclusions. The meta-analysis conducted by Li et al concluded that the PvuII polymorphism of ESR1 was a risk factor for prostate cancer development [ 7 ], while the meta-analysis conducted by Gu et al found no association between frequencies of the PvuII (C>T) polymorphism and prostate cancer susceptibility, but found a positive correlation between XbaI (A>G) polymorphism and the risk of prostate cancer [ 8 ].…”

Section: Introductionmentioning

confidence: 99%

Association Between ESR1 PvuII, XbaI, and P325P Polymorphisms and Breast Cancer Susceptibility: A Meta-Analysis

Zhang

Yuan

et al. 2015

Med Sci Monit

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BackgroundBreast cancer is one of the leading causes of cancer-related deaths for women. Numerous studies have shown that single-nucleotide polymorphisms (SNPs) on the ESR1 gene are associated to this disease. However, data and conclusions are inconsistent and controversial.Material/MethodsTo investigate the association between PvuII (rs2234693), XbaI (rs9340799) and P325P (rs1801132) polymorphisms of ESR1 gene with the risk of breast cancer under different population categorizations, we searched multiple databases for data collection, and performed the meta-analysis on a total of 25 case-control studies. Three different comparison models – dominant model, recessive model, and homozygote comparison model – were applied to evaluate the association.ResultsOur results indicated that people with TT+TC or TT genotype were at a greater risk of developing breast cancer than those with CC genotype in the PvuII polymorphism. While for XbaI and P325P polymorphisms, no significance was found using any of the 3 models. Furthermore, the data were also stratified into different subgroups according to the ethnicity (white or Asian) and source of controls (hospital-based or population-based), and separate analyses were conducted to assess the association. The ethnicity subgroup assessment showed that the higher risk of breast cancer for TT genotype of PvuII polymorphism than CC genotype only occurred in Asian people, but not in white populations. For the source-stratified subgroup analysis, significant association suggested that people with TT + TC genotype were at a greater risk of developing breast cancer than those with CC genotype in the hospital-based subgroup.ConclusionsThus, this meta-analysis clarified the inconsistent conclusions from previous studies, conducted analyses for the entire population as well as for different subgroups using diverse population categorization strategies, and has the potential to help provide a personalized risk estimate for breast cancer susceptibility.

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Estrogen Receptor 1 (ESR1) genetic variations in cancer risk: A systematic review and meta-analysis

Cited by 19 publications

References 42 publications

Association of three single nucleotide polymorphisms of ESR1 with breast cancer susceptibility: a meta-analysis

Association of three single nucleotide polymorphisms of ESR1 with breast cancer susceptibility: a meta-analysis

ESR1 PvuII (rs2234693 T>C) polymorphism and cancer susceptibility: Evidence from 80 studies

Association Between ESR1 PvuII, XbaI, and P325P Polymorphisms and Breast Cancer Susceptibility: A Meta-Analysis

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