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Polymorphisms in RAS/RAF/MEK/ERK Pathway Are Associated with Gastric Cancer

Patricio Gonzalez-Hormazabal1, Maher Musleh2, Marco Bustamante3

  • 1Human Genetics Program, Institute of Biomedical Sciences (ICBM), School of Medicine, University of Chile, Santiago 8380453, Chile. patriciogonzalez@uchile.cl.

Genes
|January 2, 2019
PubMed

Insights

Genetic variations in the RAS/RAF/MEK/ERK pathway are linked to gastric cancer risk. Four specific single nucleotide polymorphisms (SNPs) in RAF1, HRAS, and MAPK1 genes show significant associations with this cancer.

Area of Science:

  • Molecular Biology
  • Oncology
  • Genetics

Background:

  • The RAS/RAF/MEK/ERK pathway is crucial for cellular functions like proliferation and survival.
  • Dysregulation of this pathway, often due to somatic mutations, contributes to cancer development and progression.
  • Understanding genetic predispositions, such as single nucleotide polymorphisms (SNPs), is vital for cancer research.

Purpose of the Study:

  • To investigate the association between polymorphisms in the RAS/RAF/MEK/ERK pathway genes and gastric cancer.
  • To identify specific SNPs within this pathway that may confer susceptibility or protection against gastric cancer.

Main Methods:

  • A case-control study was conducted involving 242 gastric cancer patients and 242 healthy controls.
  • Genotyping was performed for 27 single nucleotide polymorphisms (SNPs) within the RAS/RAF/MEK/ERK pathway.
  • Statistical analyses, including the additive model, were used to assess the association between SNPs and gastric cancer risk.

Main Results:

  • Four SNPs demonstrated a significant association with gastric cancer under the additive model.
  • These include RAF1 rs3729931 (OR=1.54), HRAS rs45604736 (OR=1.60), MAPK1 rs2283792 (OR=1.45), and MAPK1 rs9610417 (OR=0.60).
  • Functional annotation suggested potential functional roles for these identified variants or their proxies.

Conclusions:

  • The study identifies specific SNPs in RAF1, HRAS, and MAPK1 genes as potentially associated with gastric cancer.
  • These findings contribute to understanding the genetic basis of gastric cancer and the role of the RAS/RAF/MEK/ERK pathway.
  • Further research into the functional impact of these SNPs could offer insights into gastric cancer etiology and prevention.
Keywords:
MAPK pathwayRAS/RAF/MEK/ERK pathwayassociation studygastric cancerpolymorphism

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