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Contribution of Double-strand Break Repair Gene Nijmegen Breakage Syndrome 1 Genotypes, Gender Difference and Smoking

Chin-Liang Chuang1, Chung-Hsing Wang2, Chang-Hsien Hsu3

  • 1Taichung Armed Forces General Hospital, Taichung, Taiwan, R.O.C.

Anticancer Research
|May 7, 2017
PubMed
Abstract

Insights

The NBS1 Glu185Gln CC genotype may increase lung cancer risk in males and smokers. This finding suggests NBS1 genotypes could be useful for early lung cancer detection and prediction.

Area of Science:

  • Genetics
  • Oncology
  • Molecular Biology

Background:

  • Nijmegen breakage syndrome 1 (NBS1) is crucial for DNA damage response and chromosomal integrity.
  • Defects in DNA damage response are linked to carcinogenesis.
  • The role of NBS1 gene variants in lung cancer risk was previously unknown.

Purpose of the Study:

  • To investigate the association between NBS1 Glu185Gln (rs1805794, E185Q) genotypes and lung cancer risk.
  • To determine if NBS1 variants contribute to lung cancer susceptibility.

Main Methods:

  • A case-control study involving 358 lung cancer patients and 716 healthy controls.
  • Genotyping was performed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).
  • Allelic and genotypic frequencies were analyzed.

Main Results:

  • No significant association was found between NBS1 Glu185Gln genotypes and overall lung cancer risk (p for trend=0.5423).
  • The C allele did not increase lung cancer susceptibility (p=0.4916).
  • However, the CC genotype was associated with increased lung cancer risk in males (aOR=1.85) and smokers (aOR=1.76).

Conclusions:

  • The NBS1 Glu185Gln CC genotype may specifically elevate lung cancer risk in males and smokers.
  • This genotype could potentially serve as a predictive marker for lung cancer in these subgroups.
  • Further research is warranted to confirm these findings and explore underlying mechanisms.
Keywords:
Double-strand break repairNBS1gendergenotypelung cancerpolymorphismsmoking

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