Impact of AKT1 polymorphism on DNA damage, BTG2 expression, and risk of colorectal cancer development

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Hina Zubair1, Zahid Khan1, Muhammad Imran1

  • 1Biochemistry Section, Institute of Chemical Sciences, University of Peshawar, Peshawar, Pakistan.

Radiology and Oncology
|August 13, 2022
PubMed
Abstract

Insights

The AKT rs1130233 G to A variant increases colorectal cancer risk by reducing AKT protein kinase B activation and increasing DNA damage and Btg2 expression.

Area of Science:

  • Genetics
  • Molecular Biology
  • Oncology

Background:

  • AKT (Protein Kinase B) is crucial in the PI3K-Akt-mTOR pathway, regulating cellular processes.
  • Single nucleotide polymorphisms (SNPs) in the AKT gene are linked to various cancers.
  • This study investigates the functional SNP rs1130233 in the AKT gene and its association with colorectal cancer (CRC).

Purpose of the Study:

  • To examine the association between the AKT rs1130233 (G>A) polymorphism and CRC risk.
  • To evaluate the impact of this SNP on AKT activation, DNA damage, and Btg2 expression.

Main Methods:

  • Genotyping of 197 controls and 200 CRC patients for AKT rs1130233.
  • Measurement of AKT expression, activation, and Btg2 expression in different genotype carriers (GG, AG, AA).
  • Assessment of DNA damage using the comet assay.

Main Results:

  • The AG and AA genotypes of rs1130233 were significantly associated with increased CRC risk (OR=1.80 and OR=5.00, respectively).
  • The G to A substitution led to decreased AKT expression and activation.
  • AG and AA genotypes showed increased DNA damage and Btg2 expression.

Conclusions:

  • The G to A substitution at AKT rs1130233 is a risk factor for colorectal cancer development.
  • This risk is mediated by reduced AKT expression and activation, coupled with increased DNA damage.
Keywords:
AKT1BTG2DNA damagecolorectal cancerrs1130233

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