FAM13A polymorphisms are associated with a specific susceptibility to clinical progression of oral cancer in alcohol drinkers

BMC Cancer. 2023 Jun 30;23(1):607. doi: 10.1186/s12885-023-11052-5.

Abstract

Background: Single nucleotide polymorphism (SNP) is a genetic variation that occurs when a single nucleotide base in the DNA sequence varies between individuals and is present in at least 1% of the population. Genetic variants in FAM13A are associated with different types of chronic respiratory diseases, including chronic obstructive pulmonary disease (COPD), cystic fibrosis (CF), and lung cancer. However, there is little literature on the association of FAM13A genotypes with oral cancer. Therefore, this project will explore the correlation between the FAM13A genotype and the formation of oral cancer.

Methods: In this project, we will examine the presence of gene polymorphisms gene polymorphisms of rs1059122, rs3017895, rs3756050, and rs7657817 in the FAM13A gene exon, and combine the expression of these genes to try to clarify the impact of the FAM13A gene polymorphism on oral cancer. First, four loci (rs1059122, rs3017895, rs3756050, and rs7657817) of the FAM13A SNP were genotyped using TaqMan allelic discrimination.

Results: By estimating OR and AOR, FAM13A exhibited different genotypic variables in four SNPs that were not statistically significant between controls and patients with oral cancer. The results of the general analysis showed that different distributions of allelic types did not affect clinical stage, tumour size, lymph node invasion, distant metastasis, and pathological differentiation status. However, in the alcohol drinking group specifically, patients with the rs3017895 SNP G genotype had a 3.17-fold (95% CI, 1.102-9.116; p = 0.032) increase in the well differentiated state of cells compared to patients with the A allele.

Conclusions: Our results suggested that the SNP rs3017895 FAM13A could contribute to oral cancer. More sample studies are needed in the future to confirm our results and more functional studies are needed to investigate their relevant roles in the development of oral cancer.

Keywords: Alcohol drinkers; FAM13A; Oral; Polymorphism.

MeSH terms

  • Alcohol Drinking* / adverse effects
  • Disease Progression
  • GTPase-Activating Proteins* / genetics
  • Genes, Regulator
  • Humans
  • Mouth Neoplasms* / genetics
  • Polymorphism, Single Nucleotide

Substances

  • FAM13A protein, human
  • GTPase-Activating Proteins