TLR and MBL gene polymorphisms in severe acute pancreatitis

Mol Diagn Ther. 2008;12(1):45-50. doi: 10.1007/BF03256267.

Abstract

Background and objective: Mannose-binding lectin (MBL) and toll-like receptor (TLR)-4 gene polymorphisms have been implicated in inflammatory episodes in a number of studies. In view of the inflammatory nature of acute pancreatitis, we aimed to determine the predictive value of two point mutations in the promoter region at position -550 (H/L variants) and -221 (X/Y variants) of the MBL2 gene, and the Asp299Gly and 119C>A polymorphisms of the TLR4 gene on the occurrence of severe acute pancreatitis (SAP).

Methods: The study included 132 patients with SAP, 106 with mild acute pancreatitis (MAP), and 121 healthy volunteers. Genotypes were determined using restriction fragment length polymorphism analysis of PCR products and by allele-specific PCR.

Results: No significant difference in genotype frequency was noted between the patients with acute pancreatitis and controls for any of the gene loci studied. The distributions of the HY/HY, HY/LY, LY/LY, and LY/LX genotypes of MBL2 gene promoter and 119C>A genotype of the TLR4 gene were similar in patients with mild or severe acute pancreatitis. HY/LX genotype frequency was significantly higher in patients with SAP compared with MAP (26% vs 14%; p = 0.028).

Conclusion: Results indicate that the MBL2 HY/LX genotype plays an important role in the determination of disease severity to acute pancreatitis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acute Disease
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Male
  • Mannose-Binding Lectin / genetics*
  • Middle Aged
  • Pancreatitis / genetics*
  • Polymerase Chain Reaction
  • Polymorphism, Genetic*
  • Toll-Like Receptor 4 / genetics*

Substances

  • MBL2 protein, human
  • Mannose-Binding Lectin
  • Toll-Like Receptor 4