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Impact of NR5A2 and RYR2 3′UTR polymorphisms on the risk of breast cancer in a Chinese Han population

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Abstract

Objectives

The NR5A2 and RYR2 genes are important players in steroid metabolism and play an important role in cancer research. In this research, we want to evaluate the effect of NR5A2 and RYR2 polymorphisms on breast cancer (BC).

Methods

Four single nucleotide polymorphisms on NR5A2 and RYR2 were selected to genotype by Agena MassARRAY in 379 BC patients and 407 healthy controls. Using the PLINK software to calculate the Odds ratio (OR) and 95% confidence intervals (CIs) via the logistic regression analysis to evaluate the risk for BC.

Results

We found that NR5A2 rs2246209 significantly decreased the risk of BC with the AA genotype (OR 0.58, 95%CI 0.34–0.99, p = 0.049), and recessive model (OR 0.59, 95%CI 0.35–0.99, p = 0.046); rs12594 in the RYR2 gene significantly decreased the risk of BC in the GG genotype (OR 0.44, 95%CI 0.22–0.88, p = 0.020), and recessive model (OR 0.43, 95%CI 0.21–0.85, p = 0.016). Further stratification analysis showed that NR5A2 rs2246209 was related to a lower incidence of BC affected by age, lymph nodes metastasis, and tumor stage; RYR2 rs12594 was related to a decreased BC risk restricted by age, estrogen receptor (ER), progesterone receptor (PR), menopausal status, tumor size, and tumor stage. Rs12594 in the RyR2 gene remained significant on the genetic susceptibility of PR-positive BC after Bonferroni correction (p < 0.0125).

Conclusions

This study provides an evidence that NR5A2 rs2246209 and RYR2 rs12594 decreased the risk of breast cancer.

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Abbreviations

BC:

Breast cancer

ER:

Estrogen receptor

PR:

Progesterone receptor

LNM:

Lymph node metastasis

ORs:

Odds ratios

CIs:

Confidence intervals

SNP:

Single nucleotide polymorphism

HWE:

Hardy–Weinberg equilibrium

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Acknowledgements

We thank all authors for their contributions and supports. We are also grateful to all participants for providing blood samples. We also thank the National Natural Science Foundation of China (No. 8170100875) for funding the research.

Author information

Author notes

  1. Ying Wei and Xiaolin Wang are Joint first authors.

Authors and Affiliations

  1. Department of Internal Medicine Oncology, The First Affiliated Hospital of Xi’an Jiaotong University School of Medicine, Xi’an, 710061, Shaanxi, China

    Ying Wei & Xinhan Zhao

  2. Department of Internal Medicine Oncology, Yulin No.2 Hospital, Yulin, 719000, Shaanxi, China

    Ying Wei, Changtao Zhao, Yuwei Chang & Zhiqing Bian

  3. Department of General Surgery, Yulin No.2 Hospital, Yulin, 719000, Shaanxi, China

    Xiaolin Wang & Zhe Zhang

Authors
  1. Ying Wei
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  2. Xiaolin Wang
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  3. Zhe Zhang
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  4. Changtao Zhao
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  5. Yuwei Chang
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  7. Xinhan Zhao
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Corresponding author

Correspondence to Xinhan Zhao.

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All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

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Our present study was approved by the Ethics Committee of Shaanxi Provincial Cancer Hospital. Informed consent forms were signed by all participants.

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Wei, Y., Wang, X., Zhang, Z. et al. Impact of NR5A2 and RYR2 3′UTR polymorphisms on the risk of breast cancer in a Chinese Han population. Breast Cancer Res Treat 183, 1–8 (2020). https://doi.org/10.1007/s10549-020-05736-w

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