Association between the TAP1 gene polymorphisms and recurrent respiratory papillomatosis in patients from Western Mexico: A pilot study

J Clin Lab Anal. 2021 Apr;35(4):e23712. doi: 10.1002/jcla.23712. Epub 2021 Jan 28.

Abstract

Background: Recurrent respiratory papillomatosis (RRP) is a respiratory tract disease that affects children and adults and is characterized by the recurrent proliferation of multiple papillomas. The etiologic agent is the human papillomavirus, mainly genotypes 6 and 11. Furthermore, polymorphisms in TAP1 appear to influence the selection of antigenic peptides and the transport process to the rough endoplasmic reticulum, for their subsequent presentation to T lymphocytes, an essential process against viral diseases and tumor processes. Previous studies have shown that individuals with those polymorphisms are susceptible to immune, infectious, and tumor-related diseases. The present study aimed to determine the association between the TAP1 rs1057141 (c.1177A>G) and rs1135216 (c.2090A>G) single nucleotide polymorphisms (SNPs) and RRP.

Methods: A case-control study was carried out on a group of 70 individuals (35 controls and 35 patients). RRP diagnosis, HPV genotyping, and viral load were determined through histology and PCR. SNPs rs1057141 and rs1135216 were identified through allelic discrimination, using real-time PCR. The haplotypic analyses were performed using the Arlequin 3.5 program.

Results: HPV-6 and HPV-11 were the genotypes found in the samples. In the polymorphism analysis, rs1057141 showed no significant differences (p = 0.049, CI = 0.994-7.331). In contrast, a significant difference was found in rs1135216 (p = 0.039, OR = 2.4) in the allelic analysis, as well as in the dominant (p = 0.027, OR = 3.06), codominant (p = 0.033, OR = 3.06), and additive model (p = 0.043, OR = 2.505) in subjects with the G allele.

Conclusion: The G allele in rs1135216 was associated with a genetic risk of susceptibility for RRP in a population in Western Mexico.

Keywords: TAP1; HPV; larynx; pediatric respiratory papillomatosis; recurrent respiratory papillomatosis.

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily B, Member 2 / genetics*
  • Adolescent
  • Adult
  • Aged
  • Case-Control Studies
  • Child
  • Child, Preschool
  • Female
  • Gene Frequency / genetics
  • Genetic Association Studies*
  • Genetic Predisposition to Disease*
  • Haplotypes / genetics
  • Humans
  • Infant
  • Inheritance Patterns / genetics
  • Male
  • Mexico
  • Middle Aged
  • Models, Genetic
  • Papillomavirus Infections / genetics*
  • Pilot Projects
  • Polymorphism, Single Nucleotide / genetics*
  • Respiratory Tract Infections / genetics*
  • Young Adult

Substances

  • ATP Binding Cassette Transporter, Subfamily B, Member 2
  • TAP1 protein, human

Supplementary concepts

  • Recurrent respiratory papillomatosis