rs6817952

This is a downstream gene variant variant in the ART3 gene.

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Research that mentions this SNP (1)

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Strong overexpression of CXCR3 axis components in childhood inflammatory bowel disease
AssociationN=732Sebastian Schroepf et al.(2010)· Inflammatory Bowel Diseases

This study investigated the CXCR3 chemokine axis in inflammatory bowel disease (IBD) across 501 German individuals (336 CD, 165 UC, including 258 children and 243 adults) and 231 controls. CXCR3 axis genes (CXCR3, CXCL9, CXCL10, CXCL11) were significantly overexpressed in inflamed colonic tissue from pediatric CD and UC patients. The CXCL11 rs6817952 A variant showed association with pediatric CD (P=0.04) and UC in all age groups (P=0.009), suggesting a role in IBD pathogenesis.

Traits studied:Crohn's diseaseInflammatory bowel diseaseUlcerative colitis
PubMedDOIMetascience Observatory

About ART3

This gene encodes an arginine-specific ADP-ribosyltransferase. The encoded protein catalyzes a reversible reaction which modifies proteins by the addition or removal of ADP-ribose to an arginine residue to regulate the function of the modified protein. An ADP-ribosyltransferase pseudogene is located on chromosome 11. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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