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Perturbations of Circulating miRNAs in Irritable Bowel Syndrome Detected Using a Multiplexed High-throughput Gene Expression Platform
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Perturbations of Circulating miRNAs in Irritable Bowel Syndrome Detected Using a Multiplexed High-throughput Gene Expression Platform

Published on: November 30, 2016

Association study of common genetic variants in pre-microRNAs in patients with ulcerative colitis

Masaaki Okubo1, Tomomitsu Tahara, Tomoyuki Shibata

  • 1Department of Gastroenterology, Fujita Health University School of Medicine, 1-98 Dengakugakubo, Kutsukake-cho, Toyoake, Aichi 470-1192, Japan.

Journal of Clinical Immunology
|September 18, 2010
PubMed
Abstract

Insights

Single-nucleotide polymorphisms (SNPs) in microRNAs (miRNAs) may influence ulcerative colitis (UC) risk and disease severity. Specifically, the rs3746444 SNP is linked to UC susceptibility and more severe disease phenotypes in a Japanese population.

Area of Science:

  • Genetics
  • Gastroenterology
  • Molecular Biology

Background:

  • Single-nucleotide polymorphisms (SNPs) in microRNAs (miRNAs) are implicated in various human diseases.
  • Investigating specific miRNA SNPs can reveal associations with inflammatory bowel diseases like ulcerative colitis (UC).

Purpose of the Study:

  • To evaluate the association of three pre-miRNA SNPs (rs11614913, rs2910164, rs3746444) with ulcerative colitis (UC) risk.
  • To determine if these SNPs influence the clinical and pathological features of UC in a Japanese population.

Main Methods:

  • Genotyping of rs11614913, rs2910164, and rs3746444 SNPs in 170 UC patients and 403 healthy controls.
  • Statistical analysis using odds ratios (OR) and 95% confidence intervals (CI) to assess associations.

Main Results:

  • The rs3746444 AG genotype was significantly associated with increased UC risk (OR=1.51, p=0.037).
  • This genotype correlated with older age at onset, specific colitis types (left-sided, pancolitis), increased hospitalizations, steroid dependence, and refractory disease.
  • The rs11614913 TT genotype was linked to a higher risk of refractory UC phenotypes (OR=2.21, p=0.016).

Conclusions:

  • The rs3746444 SNP is the first identified genetic factor potentially influencing susceptibility to ulcerative colitis.
  • Both rs3746444 and rs11614913 SNPs may play a role in the pathophysiological characteristics and clinical manifestations of UC.

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