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Genetic variation in myosin IXB is associated with ulcerative colitis
Adriaan A van Bodegraven1, Christine R Curley, Karen A Hunt
1Department of Gastroenterology, VU University Medical Centre, Amsterdam, The Netherlands.
Gastroenterology
|November 8, 2006
Summary
Genetic variations in the myosin IXB (MYO9B) gene are linked to increased risk for inflammatory bowel disease (IBD). These MYO9B variants, previously associated with celiac disease, show a stronger link with ulcerative colitis than Crohn's disease.
Area of Science:
- Genetics
- Gastroenterology
- Immunology
Background:
- Germline genetic variations in the 3' region of myosin IXB (MYO9B) have been linked to celiac disease susceptibility.
- A hypothesis suggests MYO9B variants may influence intestinal permeability, prompting further investigation into their role in inflammatory bowel disease (IBD).
Purpose of the Study:
- To investigate the potential role of MYO9B gene variations in the susceptibility to inflammatory bowel disease (IBD).
Main Methods:
- Eight single-nucleotide polymorphisms (SNPs) were selected to tag common haplotypes in the 3' region of MYO9B.
- Case-control cohorts of European descent (UK, Dutch, Canadian/Italian) were analyzed, including 2717 IBD patients and 4440 controls.
Main Results:
- Common MYO9B variations were significantly associated with IBD susceptibility across all three cohorts.
- The strongest association was observed with SNP rs1545620 (meta-analysis P = 1.9 x 10(-6)), with the same alleles linked to celiac disease.
- The MYO9B association was stronger for ulcerative colitis than for Crohn's disease.
Conclusions:
- Genetic variants in MYO9B predispose individuals to inflammatory bowel disease.
- The nonsynonymous variant rs1545620 (Ala1011Ser) is located in the calmodulin binding IQ domain of MYO9B.
- These findings suggest shared causal mechanisms between celiac disease, ulcerative colitis, and Crohn's disease.
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