Normal allele: AA
The PTPN2 risk gene is associated with Crohn's disease and type 1 diabetes.
Polymorphism rs1893217 is related to topics like this:
Research and publications:
17554260 Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes
18987646 The expanding genetic overlap between multiple sclerosis and type I diabetes.
19073967 Shared and distinct genetic variants in type 1 diabetes and celiac disease
19951419 Confirmation of the genetic association of CTLA4 and PTPN22 with ANCA-associated vasculitis.
20190752 Multiple common variants for celiac disease influencing immune gene expression.
20570966 Nonsecretory fucosyltransferase 2 (FUT2) status is associated with Crohn's disease.
20587799 Genetics of type 1 diabetes: what next?
20805105 Synthetic associations in the context of genome-wide association scan signals
21270831 Association between type 1 diabetes and GWAS SNPs in the southeast US Caucasian population.
21852963 Pervasive sharing of genetic effects in autoimmune disease.
22654555 Genetic basis of Graves' disease.
23028907 Limited evidence for parent-of-origin effects in inflammatory bowel disease associated loci.
23518806 Association between the PTPN2 gene and Crohn's disease: analysis of potential causative variants.
24274136 Biobanking across the phenome - at the center of chronic disease research.
26811645 Protein tyrosine phosphatase non-receptor type 2 and inflammatory bowel disease.
27156530 Genetic variation in IBD: progress, clues to pathogenesis and possible clinical utility.
32031616 Presence of PTPN2 SNP rs1893217 Enhances the Anti-inflammatory Effect of Spermidine.