Genetic Profile of FOXO3 Single-Nucleotide Polymorphism in Colorectal Cancer Patients

Area of Science:

• Genetics
• Oncology
• Molecular Biology

Background:

• Colorectal cancer (CRC) incidence is rising, particularly in developing nations like India.
• CRC heritability is influenced by inherited genetic variants and environmental factors.
• The FOXO3 gene's role in CRC susceptibility is under investigation, especially in diverse populations.

Purpose of the Study:

• To investigate the distribution of specific FOXO3 gene single-nucleotide polymorphisms (SNPs) in North Indian CRC patients.
• To determine the association between FOXO3 gene polymorphisms (rs2253310 and rs4946936) and CRC risk.
• To evaluate the potential of these polymorphisms as biomarkers for CRC susceptibility.

Main Methods:

• A case-control study involving 487 CRC patients and 487 age-matched controls.
• Genotyping of rs2253310 and rs4946936 polymorphisms using polymerase chain reaction (PCR)-restriction fragment length polymorphism and PCR-single-stranded conformation polymorphism.
• Sequence detection was employed for accurate genotyping.

Main Results:

• The CC genotype of the rs4946936 polymorphism was significantly associated with an increased risk of CRC (p = 0.02; OR = 1.40).
• The GT haplotype of the FOXO3 gene was identified as a risk haplotype (OR = 1.71).
• Other haplotypes (CC, CT, GC) showed a protective effect against CRC development.

Conclusions:

• The rs4946936 polymorphism in the FOXO3 gene is associated with an elevated risk of colorectal cancer in the studied North Indian population.
• The rs2253310 polymorphism did not show a significant association with CRC risk.
• These findings contribute to understanding the genetic underpinnings of CRC in India and may inform future risk assessment strategies.