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Association of caspase-9 and RUNX3 with inflammatory bowel disease
1Department of Gastroenterology, Xijing Hospital, State Key Laboratory of Cancer Biology, The Fourth Military Medical University, Xi'an, Shaanxi Province, China.
Tissue Antigens
|October 5, 2010
Summary
Genetic variations in the caspase-9 (CASP9) gene, but not RUNX3, are linked to inflammatory bowel disease (IBD) susceptibility. Specifically, CASP9 rs1052571 is associated with severe ulcerative colitis.
Area of Science:
- Genetics
- Immunology
- Gastroenterology
Background:
- Inflammatory bowel disease (IBD) susceptibility has been linked to a specific region on chromosome 1p36 (IBD7).
- The roles of specific genes, including caspase-9 (CASP9) and RUNX3, in IBD pathogenesis require further investigation.
Purpose of the Study:
- To investigate the association between polymorphisms in the CASP9 and RUNX3 genes and susceptibility to IBD.
- To examine the relationship between these genetic variations and clinical phenotypes of Crohn's disease (CD) and ulcerative colitis (UC).
Main Methods:
- Genotyping of 14 single nucleotide polymorphisms (SNPs) in CASP9 and 11 SNPs in RUNX3 using MALDI-TOF MS.
- Analysis of 555 CD patients, 651 UC patients, and 964 healthy controls from a UK population.
- Linkage disequilibrium and haplotype association analyses were performed.
Main Results:
- No significant association was found between individual CASP9 or RUNX3 SNPs and overall UC or CD susceptibility.
- The CASP9 SNP rs1052571 showed a significant association with severe UC (P = 0.0034, OR = 1.957).
- Significant haplotype associations were identified for CASP9 with IBD, but not for RUNX3 with either UC or CD.
Conclusions:
- The CASP9 gene, particularly certain polymorphisms and haplotypes, may contribute to IBD susceptibility.
- RUNX3 does not appear to be a major susceptibility gene for IBD in this cohort.
- CASP9 warrants further investigation as a potential IBD susceptibility gene.
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