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Correlation between Bax gene polymorphisms and esophagus cancer.

Lei Sun1, Lingyun Wei1, Lei Wei1

  • 1Department of Cardio-Thoracic Surgery, The Affiliated Jinling Hospital of Nanjing Medical University, Nanjing, Jiangsu 210002, P.R. China.

Oncology Letters
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Summary

The Bax G(-248)A gene polymorphism is linked to esophageal squamous cell carcinoma (ESCC) progression and patient prognosis. Specific genotypes influence Bax protein expression, impacting survival rates in ESCC patients.

Keywords:
B-cell lymphoma 2 associated X proteinesophageal squamous cell carcinomagene polymorphismprognosis

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Area of Science:

  • Oncology
  • Genetics
  • Molecular Biology

Background:

  • The B-cell lymphoma 2 (Bcl-2) associated X protein (Bax) is a pro-apoptosis gene crucial in cancer development.
  • Single nucleotide polymorphisms (SNPs) in gene promoter regions can affect gene expression and disease outcomes.
  • Esophageal squamous cell carcinoma (ESCC) is a significant global health concern with variable prognoses.

Purpose of the Study:

  • To investigate the association between the Bax G(-248)A SNP and clinicopathological parameters in ESCC patients.
  • To determine if Bax gene polymorphism correlates with Bax protein expression.
  • To evaluate the impact of Bax gene polymorphism on the prognosis and survival of ESCC patients.

Main Methods:

  • Genotyping of the Bax G(-248)A SNP using polymerase chain reaction-restricted fragment length polymorphism (PCR-RFLP) in 75 ESCC patients.
  • Immunohistochemistry to detect Bax protein expression in ESCC tissues and adjacent normal tissues.
  • Statistical analysis (e.g., chi-squared test) to correlate genotype, protein expression, and clinical data.

Main Results:

  • The frequencies of Bax genotypes GG, AG, and AA were 66.67%, 21.33%, and 12%, respectively.
  • Bax protein expression was detected in 42.67% of ESCC tissues and associated with Bax gene polymorphism.
  • Bax polymorphism correlated with tumor infiltration, differentiation, lymphatic metastasis, and clinical stage; GG genotype was linked to poorer prognosis.

Conclusions:

  • Bax gene polymorphism influences Bax protein expression and is associated with key clinicopathological features in ESCC.
  • The Bax G(-248)A polymorphism is a potential prognostic biomarker for ESCC patients.
  • Further research can explore therapeutic strategies targeting Bax in ESCC based on genetic profiles.