Association between ATM gene polymorphisms, lung cancer susceptibility and radiation-induced pneumonitis: a

Zhipeng Yan1, Xiang Tong1, Yao Ma1,2

  • 1Department of Respiratory Medicine and Critical Care Medicine, West China Hospital/West China School of Medicine, Sichuan University, Guoxuexiang 37, Chengdu, 610041, China.

BMC Pulmonary Medicine
|December 17, 2017
PubMed
Abstract

Insights

Genetic variations in the ATM gene, specifically polymorphisms rs189037, rs664677, and rs664143, are linked to increased lung cancer risk. The ATM rs189037 variant also elevates the risk of radiation-induced pneumonitis (RP).

Area of Science:

  • Genetics
  • Oncology
  • Radiotherapy

Background:

  • DNA double-strand break (DSB) repair is crucial for cellular protection against damage.
  • The ataxia telangiectasia mutated (ATM) gene is vital for DSB repair.
  • Inconsistent findings exist regarding ATM gene polymorphisms and cancer/radiation pneumonitis risk.

Purpose of the Study:

  • To comprehensively analyze the association between ATM gene polymorphisms and lung cancer susceptibility.
  • To investigate the relationship between ATM gene polymorphisms and radiation-induced pneumonitis (RP) risk in lung cancer patients.

Main Methods:

  • Systematic literature search across PubMed, Embase, CNKI, and Wanfang databases.
  • Meta-analysis of case-control studies using odds ratios (OR) and 95% confidence intervals (CI).
  • Publication bias assessed using funnel plots and Begg's/Egger's tests; analysis performed in STATA 13.0.

Main Results:

  • Ten studies (4731 cases, 5142 controls) for lung cancer and four studies (192 cases, 772 controls) for RP risk were included.
  • ATM polymorphisms rs189037, rs664677, and rs664143 were significantly associated with lung cancer susceptibility (ORs ranging from 1.21 to 1.43).
  • The ATM rs189037 variant showed a significant association with RP risk (OR = 1.74). No publication bias was detected.

Conclusions:

  • ATM gene polymorphisms rs189037, rs664677, and rs664143 are identified as risk factors for lung cancer.
  • The ATM rs189037 variant is a significant risk factor for radiation-induced pneumonitis (RP).
  • These findings highlight the role of ATM gene variations in cancer development and treatment response.