Association of TLR9-1237T>C; rs5743836 polymorphism with increased risk of Hodgkin's lymphoma: A case-control study

PLoS One. 2022 Jul 29;17(7):e0272312. doi: 10.1371/journal.pone.0272312. eCollection 2022.

Abstract

Mature B-cell neoplasms are typically divided into Hodgkin and Non-Hodgkin Lymphomas. Hodgkin Lymphoma is characterized by the neoplastic Reed-Sternberg cells, usually harbored in an inflammatory background, with a frequent clinical presentation of mediastinal lymphadenopathy. Many studies link between autoimmunity and lymphomagenesis, a large proportion of these studies evidently trace the pathogenesis back to the misdirected detection of self-derived nucleic acids by Toll-Like Receptors (TLRs), especially those of the intracellular type. In this study, we analyzed the relationship between a selected SNP in TLR9 (TLR9-1237T>C; rs5743836) and the risk and overall survival of HL patients in a Jordanian Arab population. A total of 374 subjects; 136 cases of Hodgkin lymphoma and 238 matched healthy controls were incorporated in this study. Genomic DNA was extracted from formalin-fixed paraffin-embedded tissues. Genotyping of the genetic polymorphisms was conducted using a sequencing protocol. The results show a statistically significant higher distribution of the rs5743836 (TLR9-1237T>C) allele among the case population, with a p-value of 0.031 (<0.05). This distribution proved significant when studied in the codominant (only significant in the T/C genotype, p-value = 0.030), dominant (p-value = 0.025), and overdominant (p-value = 0.035) models. None of the models showed any statistically significant difference in survival associated with the rs5743836 (TLR9-1237T>C) SNP.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Case-Control Studies
  • Genetic Predisposition to Disease
  • Hodgkin Disease* / genetics
  • Humans
  • Polymorphism, Single Nucleotide
  • Toll-Like Receptor 9* / genetics

Substances

  • TLR9 protein, human
  • Toll-Like Receptor 9

Grants and funding

The study was supported by the Jordan University of Science and Technology Grant number 20170225 The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.