+ Site Statistics
+ Search Articles
+ PDF Full Text Service
How our service works
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ Translate
+ Recently Requested

Sequence variation in the card15 gene and susceptibility to crohns disease



Sequence variation in the card15 gene and susceptibility to crohns disease



Digestive Disease Week Abstracts and Itinerary Planner : Abstract No M1566



Introduction: Crohn's disease (CD), a subtype of inflammatory bowel disease (IBD), is a complex disorder, with both genetic and environmental aetiology. Three sequence variants in the CARD15 gene have recently been shown to be associated with susceptibility to CD. There is also evidence of an excess of rare CARD15 variants in CD, but whether these are true disease susceptibility alleles (DSAs) is unknown. Clarification of the status of rare variants would facilitate a more accurate assessment of the extent of the contribution of CARD15 to Crohn's disease, and of the likely genetic model for the effect of CARD15. Methods and results: In order to investigate the contribution of rare variants to CD we have selected 100 Crohn's patients who are heterozygous for one of the three associated DSAs (R702W, G908R or 1007fs) for comprehensive mutation screening. The coding sequence of CARD15 was screened by denaturing HPLC for mutations to identify both common polymorphisms and rare variants. 21 patients had one or more additional rare CARD15 mutations, 10 of which were non-synonymous. One of these was a novel nonsense mutation that would produce a truncated protein (R896X), and four (R235C, S431L, A612T, R1019G) were amino acid substitutions that were predicted to alter the function of the protein. Conclusion: The finding that only a minority of patients who are heterozygous for common disease susceptibility alleles in CARD15 have a second mutation is consistent with the gene dosage model for CARD15 in Crohn's disease.

Please choose payment method:






(PDF emailed within 1 workday: $29.90)

Accession: 035714117

Download citation: RISBibTeXText


Related references

Eight nonnative plants in western Oregon forests: Associations with environment and management. Environmental Monitoring and Assessment 100(1-3): 109-127, 2005

Significant enhancement of the gastric mucin production after Rabeprazole administration: Its potential clinical significance in acid-related disorders. Gastroenterology. 122(4 Suppl. 1): A-196, Il, 2002

Correlation between mutations in the E2 region of HCV genotype 1 isolates and responsiveness to IFNalpha. Journal of Hepatology 32(Suppl. 2): 98, 2000

Crohn's disease: Preliminary evidence for the association of high level serum antibodies to bacteria associated antigens with antibiotic induced clinical remission. Gastroenterology. 122(4 Suppl. 1): A-177, Il, 2002

A 295 KDA heat-modifiable major outer membrane protein of Rickettsia prowazekii, putative virulence factor, is a peptidyl-prolyl cis/trans isomerase. Iubmb Life. 56(4): 215-219, Il, 2004

Mutations of c-kit at exons 17/13 are rare but clinically relevant in human subjects. Journal of Gastroenterology and Hepatology 18(5): 475-478, 2003

Anti receptor antibodies Update of their current role in the treatment of breast cancer. European Journal of Cancer 38(Suppl. 3): S88, 2002

IMx tacrolimus II assay Is it reliable at low blood concentrations? A comparison with tandem MS/MS. Clinical Biochemistry. 35(5): 389-392, Y, 2002

Variants of C1GALT1 gene are associated with the genetic susceptibility to IgA nephropathy. Kidney International 71(5): 448-453, 2000

NOD/SCID repopulating cells but not LTC-IC are enriched in human CD34+ cells expressing the CCR1 chemokine receptor. Leukemia 15(7): 1092-1101, 2001

NOD.2445 mice, a spontaneous model of human primary biliary cirrhosis, develop PDC-E2 specific autoreactive T cells. 2007

Study of CA125 using polyclonal antibodies. Tumor Biology 24(Suppl. 1): 62, 2003

Mutation, polymorphism and perspectives for the future of human flavin-containing monooxygenase 3. Mutation Research 612(3): 165-171, 2006

NOD2/CARD15 gene polymorphisms and Crohn's disease in the Chinese population. Alimentary Pharmacology and Therapeutics 17(12): 1465-1470, 2003