Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0042384 (vasculitis)
 20,525 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Microscopic polyangiitis (MPA) is a rare and severe form of systemic necrotizing vasculitis associated with myeloperoxidase (MPO)-specific antineutrophil cytoplasmic antibody (ANCA). We previously reported significant association of HLA-DRB1*0901 with MPA. To define the susceptibility loci within the HLA region, we determined the genotypes of HLA-DQB1, DPB1, B and C in 50 patients with MPA and 77 unrelated Japanese controls. In addition to HLA-DRB1*0901, significant association of DQB1*0303 (allele carrier frequencies 50% in MPA, 29.9% in controls, odds ratio 2.35, P = 0.017) was detected. These alleles were in strong linkage disequilibrium (D' = 0.95, r2 = 0.82). Increased frequency was also observed for DPB1*0201, B*15111 and Cw*0303, which was at least partly accounted for by linkage disequilibrium with DRB1*0901 and DQB1*0303. These results indicate that DRB1*0901-DQB1*0303 haplotype represents the primary genetic risk for MPA within the HLA region in Japanese, and provides the basis that future functional studies on the role of HLA in MPA should target DR9, DQ9 and DR53 proteins encoded by this haplotype.
 ...
PMID:Association of HLA-DRB1*0901-DQB1*0303 haplotype with microscopic polyangiitis in Japanese. 1620 5

We here report a rare case of dual antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) in a 38-year-old Japanese woman previously diagnosed with mixed connective tissue disease. The patient was found to be positive for myeloperoxidase- and proteinase 3-ANCA, and was diagnosed with AAV following admission to hospital with fervescence, polyarthralgia, purpura, and asymmetric numbness of the extremities. Examination of her genetic background revealed that she carried HLA-DR9, which confers risk of both diseases in Japanese populations.
 ...
PMID:ANCA-associated vasculitis with dual ANCA positivity in coexistence with mixed connective tissue disease. 2239 60

Abstract A 65-year-old woman with a history of primary biliary cirrhosis was diagnosed as having myeloperoxidase-antineutrophil cytoplasmic antibody (MPO-ANCA)-associated crescentic glomerulonephritis (GN) during propylthiouracil (PTU) therapy for Graves' disease. Antinuclear antibodies, as well as various thyroid-associated autoantibodies, had been detected since the diagnosis of Graves' disease was made. The patient carried human leukocyte antigens (HLAs) DR4 and DR9, the two HLA haplotypes that have been reported to be related to ANCA-associated vasculitis. Withdrawal of PTU and the administration of prednisolone resulted in a decrease in the titer of MPO-ANCA, together with an improvement in renal function. It is suggested that in addition to the PTU therapy, her genetic predisposition to autoimmunity had played a role in the production of MPO-ANCA and the development of crescentic GN.
...
PMID:Propylthiouracil-induced antineutrophil cytoplasmic antibody-associated crescentic glomerulonephritis in a patient with a predisposition to autoimmune abnormalities. 2438 78