PIK3R3 Missense and NOTCH2 Synonymous Single Nucleotide Polymorphisms Are Associated with Liver Cancer

Dig Dis. 2023;41(3):458-467. doi: 10.1159/000528469. Epub 2022 Dec 19.

Abstract

Background: Single nucleotide polymorphism (SNP) of candidate genes also affects the occurrence and prognosis of liver cancer. We mainly explored the effects of PIK3R3 and NOTCH2 polymorphisms on liver cancer risk among Chinese people.

Methods: Four SNPs (rs785468, rs785467, rs3795666, and rs17024525 in PIK3R3 and NOTCH2) from 709 liver cancer patients and 700 healthy controls were genotyped using the Agena MassARRAY system. The correlation between SNPs and liver cancer risk was evaluated using logistic regression analysis. The SNP-SNP interactions were conducted by the multifactor dimensionality reduction method.

Results: The results revealed that PIK3R3-rs785467 reduced the likelihood of liver cancer among Chinese Han people (p < 0.05). In addition, PIK3R3-rs785467 decreased the susceptibility to liver cancer in different populations (females, non-smokers, and age >55 years, p < 0.05). NOTCH2-rs3795666 reduced the susceptibility to liver cancer among males, drinkers, and patients aged >55 years (p < 0.05).

Conclusions: Our results demonstrate that PIK3R3-rs785476 and NOTCH2-rs3795666 polymorphisms are responsible for decreasing the susceptibility of liver cancer development in the Chinese Han population.

Keywords: Liver cancer; NOTCH2; PIK3R3; Polymorphism.

MeSH terms

  • Case-Control Studies
  • China / epidemiology
  • East Asian People
  • Female
  • Genetic Predisposition to Disease*
  • Genotype
  • Humans
  • Liver Neoplasms* / genetics
  • Male
  • Middle Aged
  • Phosphatidylinositol 3-Kinases* / genetics
  • Polymorphism, Single Nucleotide
  • Receptor, Notch2* / genetics

Substances

  • NOTCH2 protein, human
  • Phosphatidylinositol 3-Kinases
  • PIK3R3 protein, human
  • Receptor, Notch2