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The association between

Jinyu Li1, Xiajie Zhou2, Lixi Li3

  • 1School of Basic Medical Sciences & The First Affiliated Hospital, Zhengzhou University, Zhengzhou, Henan, China.

Frontiers in Oncology
|June 5, 2023
PubMed
Summary

Altered Cathepsin Z (CTSZ) gene methylation in peripheral blood is linked to breast cancer (BC) risk, especially in younger women. Hypomethylation of CTSZ may serve as a potential biomarker for early-stage BC detection.

Keywords:
CTSZChinese womenDNA methylationbreast cancercase-control study

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Area of Science:

  • Genetics and Epigenetics
  • Oncology
  • Biomarker Discovery

Background:

  • Previous research indicates a potential association between DNA methylation in peripheral blood and breast cancer (BC).
  • The Cathepsin Z (CTSZ) gene's methylation status in peripheral blood requires further investigation regarding its link to BC.

Purpose of the Study:

  • To investigate the association between peripheral blood DNA methylation levels of the CTSZ gene and breast cancer (BC) risk.
  • To explore CTSZ methylation as a potential biomarker for early-stage BC in the Chinese population.

Main Methods:

  • A case-control study involving 567 BC cases, 635 healthy controls, and 303 benign breast disease (BBD) cases.
  • Quantitative determination of methylation levels at seven CpG sites of the CTSZ gene in peripheral blood DNA using Mass spectrometry.
  • Logistic regression analysis to evaluate the odds ratios (ORs) of CpG sites for BC risk.

Main Results:

  • Five of seven CTSZ CpG sites showed significant hypomethylation associated with BC risk compared to healthy controls.
  • Reduced methylation of CTSZ_CpG_1, CTSZ_CpG_5, and CTSZ_CpG_7,8 was linked to increased BC risk, particularly in early-stage BC and women under 50.
  • Lower CTSZ methylation levels were observed in BC compared to BBD, with correlations found between methylation and tumor characteristics.

Conclusions:

  • Altered CTSZ methylation in peripheral blood is associated with breast cancer risk.
  • Specific CTSZ hypomethylation patterns may serve as a potential biomarker for early-stage BC, especially in younger women.
  • Further research is warranted to validate CTSZ methylation as a diagnostic or prognostic tool for breast cancer.