Upload the DNA data file of the test

23andMe, AncestryDNA, FamilyTreeDNA, MyHeritage

and get an enhanced
personalized health report
free without registration

Files accepted .txt, .csv, .zip, .csv.gz

File data is not stored on the server

SNP information rs1893217

RS1893217

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:

Type 1 diabetes is it genetic

Our latest inclusion in the health report is the Type 1 Diabetes Genetic Risk Score, aimed at...

Crohn's disease genetic

A chronic disorder known as Crohn's disease is a multi-faceted condition that primarily impacts the...


Research and publications:

  17554260   Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes

  18252225   On the use of general control samples for genome-wide association studies: genetic matching highlights causal variants.

  18556337   Impact of diabetes susceptibility loci on progression from pre-diabetes to diabetes in at-risk individuals of the diabetes prevention trial-type 1 (DPT-1)

  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

  19430480   Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes

  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.

  20222910   Susceptibility loci identified by genome-wide association studies are associated with Crohn's disease in Canadian children.

  20570966   Nonsecretory fucosyltransferase 2 (FUT2) status is associated with Crohn's disease.

  20587799   Genetics of type 1 diabetes: what next?

  20722033   The susceptibility loci juvenile idiopathic arthritis shares with other autoimmune diseases extend to PTPN2, COG6, and ANGPT1.

  20805105   Synthetic associations in the context of genome-wide association scan signals

  20885991   Advances and challenges in biomarker development for type 1 diabetes prediction and prevention using omic technologies.

  21102463   Genome-wide meta-analysis increases the number of confirmed susceptibility loci for Crohn's disease to 71.

  21179116   An autoimmune-associated variant in PTPN2 reveals an impairment of IL-2R signaling in CD4(+) T cells.

  21270278   An interferon-induced helicase (IFIH1) gene polymorphism associates with different rates of progression from autoimmunity to type 1 diabetes.

  21270831   Association between type 1 diabetes and GWAS SNPs in the southeast US Caucasian population.

  21297633   Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.

  21383967   Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.

  21852963   Pervasive sharing of genetic effects in autoimmune disease.

  22021207   Crohn's disease-associated PTPN2 gene polymorphism affects muramyl dipeptide-induced cytokine secretion and autophagy.

  22315323   Effects of non-HLA gene polymorphisms on development of islet autoimmunity and type 1 diabetes in a population with high-risk HLA-DR,DQ genotypes.

  22457781   Variants in the PTPN2 gene are associated with susceptibility to both Crohn's disease and ulcerative colitis, supporting a common genetic basis for the disease.

  22544929   IRF5 risk polymorphisms contribute to interindividual variance in pattern recognition receptor-mediated cytokine secretion in human monocyte-derived cells.

  22654555   Genetic basis of Graves' disease.

  22960018   Investigation of the vitamin D receptor gene (VDR) and its interaction with protein tyrosine phosphatase, non-receptor type 2 gene (PTPN2) on risk of islet autoimmunity and type 1 diabetes: the Diabetes Autoimmunity Study in the Young (DAISY).

  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.

  23804260   Protein tyrosine phosphatases and type 1 diabetes: genetic and functional implications of PTPN2 and PTPN22.

  24127071   Association between PTPN2 polymorphisms and susceptibility to ulcerative colitis and Crohn's disease: a meta-analysis.

  24274136   Biobanking across the phenome - at the center of chronic disease research.

  24367383   Evidence of stage- and age-related heterogeneity of non-HLA SNPs and risk of islet autoimmunity and type 1 diabetes: the diabetes autoimmunity study in the young.

  26732016   Collecting Biospecimens From an Internet-Based Prospective Cohort Study of Inflammatory Bowel Disease (CCFA Partners): A Feasibility Study.

  26734582   Genetic variations of PTPN2 and PTPN22: role in the pathogenesis of type 1 diabetes and Crohn's disease.

  26811645   Protein tyrosine phosphatase non-receptor type 2 and inflammatory bowel disease.

  26904692   Genetic Risk Score Modelling for Disease Progression in New-Onset Type 1 Diabetes Patients: Increased Genetic Load of Islet-Expressed and Cytokine-Regulated Candidate Genes Predicts Poorer Glycemic Control.

  26928573   The Clinical Relevance of the IBD-Associated Variation within the Risk Gene Locus Encoding Protein Tyrosine Phosphatase Non-Receptor Type 2 in Patients of the Swiss IBD Cohort.

  27156530   Genetic variation in IBD: progress, clues to pathogenesis and possible clinical utility.

  27336838   Blood and gut eQTLs from an anti-TNF-resistant Crohn's disease cohort inform genetic association loci for IBD.

  29343548   Loss of B-Cell Anergy in Type 1 Diabetes Is Associated With High-Risk HLA and Non-HLA Disease Susceptibility Alleles.

  29965986   The presence of genetic risk variants within PTPN2 and PTPN22 is associated with intestinal microbiota alterations in Swiss IBD cohort patients.

  30888520   Genetic Mechanisms Highlight Shared Pathways for the Pathogenesis of Polygenic Type 1 Diabetes and Monogenic Autoimmune Diabetes.

  31030572   The association between rs1893217, rs478582 in PTPN2 and T1D risk with different diagnosed age, and related clinical characteristics in Chinese Han population.

  31722988   Efficient CRISPR/Cas9 Disruption of Autoimmune-Associated Genes Reveals Key Signaling Programs in Primary Human T Cells.

  32031616   Presence of PTPN2 SNP rs1893217 Enhances the Anti-inflammatory Effect of Spermidine.

  32652144   PTPN2 Regulates Interactions Between Macrophages and Intestinal Epithelial Cells to Promote Intestinal Barrier Function.

  34442830   Modulation of the Mucosa-Associated Microbiome Linked to the PTPN2 Risk Gene in Patients with Primary Sclerosing Cholangitis and Ulcerative Colitis.

  34623320   T cell protein tyrosine phosphatase protects intestinal barrier function by restricting epithelial tight junction remodeling.

Genetic test celiac

Celiac disease (CD) is a chronic condition marked by an intolerance to gluten, primarily affecting...

Genetic vitamin D deficiency

Vitamin D plays a vital role in maintaining musculoskeletal health. Recent studies have linked...

Vitamin C DNA

Vitamin C, also known as ascorbic acid, is a water-soluble vitamin essential for various bodily...

en
|
de
|
fr
|
es
|
it
|
ua
|
ru

Support