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The rs9340799 polymorphism of the estrogen receptor alpha (ESR1) gene and its association with breast cancer susceptibility

Tan, Shing Cheng
Low, Teck Yew
Mohamad Hanif, Ezanee Azlina
Sharzehan, Mohamad Ayub Khan
Kord-Varkaneh, Hamed
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Abstract
The ESR1 rs9340799 polymorphism has been frequently investigated with regard to its association with breast cancer (BC) susceptibility, but the findings have been inconclusive. In this work, we aimed to address the inconsistencies in study findings by performing a systematic review and meta-analysis. Eligible studies were identified from the Web of Science, PubMed, Scopus, China National Knowledge Infrastructure, VIP and Wanfang databases based on the predefined inclusion and exclusion criteria. The pooled odds ratio (OR) was then calculated under five genetic models: homozygous (GG vs. AA), heterozygous (AG vs. AA), dominant (AG + GG vs. AA), recessive (GG vs. AA + AG) and allele (G vs. A). Combined results from 23 studies involving 34,721 subjects indicated a lack of significant association between the polymorphism and BC susceptibility (homozygous model, OR = 1.045, 95% CI 0.887–1.231, P = 0.601; heterozygous model, OR = 0.941, 95% CI 0.861–1.030, P = 0.186; dominant model, OR = 0.957, 95% CI 0.875–1.045, P = 0.327; recessive model, OR = 1.053, 95% CI 0.908–1.222, P = 0.495; allele model, OR = 0.987, 95% CI 0.919–1.059, P = 0.709). Subgroup analyses by ethnicity, menopausal status and study quality also revealed no statistically significant association (P > 0.05). In conclusion, our results showed that the ESR1 rs9340799 polymorphism was not associated with BC susceptibility, suggesting its limited potential as a genetic marker for BC.
Citation
Tan, S.C., Low, T.Y., Mohamad Hanif, E.A. et al. The rs9340799 polymorphism of the estrogen receptor alpha (ESR1) gene and its association with breast cancer susceptibility. Sci Rep 11, 18619 (2021). https://doi.org/10.1038/s41598-021-97935-8
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PubMed ID
34545128 (pubmed)
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Journal article
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en
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© 2021 The Authors. Published by Nature Publishing Group. This is an open access article available under a Creative Commons licence. The published version can be accessed at the following link on the publisher’s website: https://doi.org/10.1038/s41598-021-97935-8
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2045-2322
EISSN
2045-2322
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Research in SCT’s laboratory is supported by the Fundamental Research Grant Scheme of the Ministry of Higher Education, Malaysia (No. FRGS/1/2019/SKK08/UKM/02/9) and the Research University Grant of Universiti Kebangsaan Malaysia (No. GUP-2020-076).
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Licence for published version: Creative Commons Attribution 4.0 International
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