Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
---|
constitutional
| germinal mutation
|  
|  
| gain of function
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R620W, in type 1 diabetes, rheumatoid arthritis, lupus, Graves thyroiditis, Addison disease and other autoimmune disorders | |
Variant & Polymorphism
SNP
, other
| allele 1858C |
|
polymorphism R620W increasing the risk of SLE, rheumatoid arthritis, type 1 diabetes and Hashimoto thyroiditis |
|
promoter SNP 1123G>C associated to type 1 diabetes |
|
lacking the C allele may have reduced capacity to downregulate T-cell responses and may therefore be more susceptible to autoimmunity |
|
T allele encoding the 620W residue is associated with an increased risk for developing type 1 diabetes |
|
association of the 1858T-allele with Addison disease |
|
Q263 variant conferred protection against systemic lupus erythematosus, reinforcing the proposal that inhibition of PTPN22 activity could be beneficial in autoimmunity (Orru 2009) |
|
two SNPs (rs1217414 and rs3789604) demonstrated significant association with type I psoriasis (Smith 2008) |
|
PTPN22 1858T allele of SNP rs2476601 is significantly associated both with generalized vitiligo and with an expanded autoimmunity phenotype |
|
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