Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0002874 (
aplastic anemia
)
5,905
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
The 1858C/T variant in
PTPN22
imparts a gain of function mutation dysregulating T-cell stimulation and is associated with an array of autoimmune diseases. Using a case-control design, we compared the frequency of this polymorphism in 91 patients with acquired
aplastic anemia
to 132 ethnically matched controls. Representation of the
PTPN22
variant was not significantly different between the two populations, suggesting that this gene polymorphism does not contribute to the etiology of
aplastic anemia
.
Aplastic anemia
thus joins a list of autoimmune diseases that commonly lack a major humoral disease component and do not associate with the
PTPN22
variant.
...
PMID:PTPN22 620W allele is not associated with aplastic anemia. 1703 23
