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Association between functional promoter polymorphisms of macrophage migration inhibitory factor (MIF) gene and

Hisakazu Shiroeda1, Tomomitsu Tahara, Masakatsu Nakamura

  • 1Department of Gastroenterology, Kanazawa Medical University, School of Medicine, 1-1, Daigaku, Uchinada-machi, Ishikawa 920-0293, Japan.

Cytokine
|July 13, 2010
PubMed

Insights

Genetic variations in the macrophage migration inhibitory factor (MIF) gene promoter influence ulcerative colitis (UC) risk and disease characteristics. The CATT repeat polymorphism is linked to UC development and inflammation severity.

Area of Science:

  • Genetics
  • Immunology
  • Gastroenterology

Background:

  • Macrophage migration inhibitory factor (MIF) is a critical proinflammatory mediator.
  • Genetic variations in the MIF gene promoter may influence susceptibility to inflammatory diseases.
  • Ulcerative colitis (UC) is a chronic inflammatory bowel disease with complex genetic underpinnings.

Purpose of the Study:

  • To investigate the association between functional polymorphisms in the MIF gene promoter and ulcerative colitis (UC).
  • To determine if these polymorphisms correlate with UC susceptibility and specific disease phenotypes.

Main Methods:

  • Genotyping of 111 UC patients and 209 controls using PCR-SSCP.
  • Analysis of two functional polymorphisms: tetranucleotide CATT repeat and G-173C in the MIF gene promoter.

Main Results:

  • The 5/5-CATT genotype showed a reduced risk for UC development (OR, 0.51) and onset after age 20 (OR, 0.33).
  • The 7/7-CATT genotype was significantly associated with chronic continuous (OR, 5.49) and distal colitis phenotypes (OR, 6.10).
  • The G-173C polymorphism did not demonstrate a significant association with UC susceptibility or phenotypes.

Conclusions:

  • The tetranucleotide CATT repeat polymorphism in the MIF gene promoter is associated with both the development of UC and the severity of inflammation.
  • These findings suggest MIF promoter polymorphisms as potential biomarkers for UC risk and disease characteristics.

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