TOWARD THE OPTIMAL SNP RESEARCH PANEL IN IRRITABLE BOWEL SYNDROME

Area of Science:

• Genetics
• Immunology
• Gastroenterology

Background:

• Multifactorial diseases like irritable bowel syndrome (IBS) have a genetic component influenced by single nucleotide polymorphisms (SNPs).
• Identifying genetic associations is crucial for IBS diagnostics and developing targeted therapies.
• Individual polymorphism analyses have not established unique relationships with IBS susceptibility, suggesting a synergistic effect of multiple genetic and environmental factors.

Purpose of the Study:

• To investigate the association of five specific SNPs in innate immunity genes with IBS.
• To identify hereditary factors contributing to innate immunity dysregulation in IBS patients.

Main Methods:

• A panel of five SNPs was analyzed: CD14-159 C>T (rs2569190), TNF-α -308 G>A (rs1800629), IL17A -197 G>A (rs2275913), TLR2 Arg753Gln G>A (rs5743708), and TLR4 Asp299Gly A>G (rs4986790).
• Genotyping was performed to assess the presence of specific alleles and genotypes.

Main Results:

• A genetically determined predisposition to IBS was indicated by the number of "rare" alleles in the CD14, TNF-α, and TLR4 genes.
• Carriage of the heterozygous genotype GA for IL17A -197 G>A polymorphism was identified as a risk factor for IBS.
• Conversely, carriage of the "rare" allele in the TLR2 Arg753Gln G>A polymorphism demonstrated a protective effect, while the normal allele showed predictive properties for IBS development.

Conclusions:

• The study identified specific SNPs in CD14, TNF-α, and TLR4 genes as risk factors for IBS.
• The IL17A -197 G>A polymorphism (heterozygous GA genotype) is associated with increased IBS risk.
• The TLR2 Arg753Gln G>A polymorphism exhibits a protective role against IBS development in the studied population.