SERPINA1, serpin family A member 1, 5265

N. diseases: 482; N. variants: 61
Disease: Vasculitis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0042384
Disease: Vasculitis
Vasculitis 		0.400 GeneticVariation disease BEFREE However, the potential effect of Pi*Z, Pi*S as well as other SERPINA1 variants on clinical course of vasculitis are not well understood. 29460271 2018
CUI: C0042384
Disease: Vasculitis
Vasculitis 		0.400 GeneticVariation disease BEFREE The alpha-1 antitrypsin (AAT) haplotype Pi*S, when inherited along with the Pi*Z haplotype to form a Pi*SZ genotype, can be associated with pulmonary emphysema in regular smokers, and less frequently with liver disease, panniculitis, and systemic vasculitis in a small percentage of people, but this connection is less well established. 28652721 2017
CUI: C0042384
Disease: Vasculitis
Vasculitis 		0.400 AlteredExpression disease BEFREE These associations include ERAP1, CCR1-CCR3, STAT4, KLRC4, GIMAP4, and TNFAIP3 in Behçet's disease; BLK and CD40 in Kawasaki disease; SERPINA1 and SEMA6A in antineutrophil cytoplasmic antibody associated vasculitides; IL12B and FCGR2A/ FCGR2A in Takayasu arteritis; and CECR1 in a newly defined vascular inflammatory syndrome associated with adenosine deaminase (ADA2) deficiency. 25405820 2015
CUI: C0042384
Disease: Vasculitis
Vasculitis 		0.400 Biomarker disease BEFREE GWASs also revealed that polymorphic variants of genes encoding proteinase 3 (PR3), the predominant antigenic target of ANCA in GPA, and its main inhibitor, alpha-1 antitrypsin, are highly associated with GPA and, even more significantly, with PR3-ANCA positivity (regardless of the clinical diagnosis); this emphasizes the central pathogenic role of PR3 and humoral autoimmunity in PR3-ANCA positive vasculitis. 25523449 2015
CUI: C0042384
Disease: Vasculitis
Vasculitis 		0.400 GeneticVariation disease BEFREE Individuals who are deficient in AAT (those with levels < 11 micromol/L) are at risk for developing such clinical manifestations as emphysema, cirrhosis, panniculitis, and anticytoplasmic neutrophilic antibody (C-ANCA)-positive vasculitis (Wegener's granulomatosis). 16088434 2005
CUI: C0042384
Disease: Vasculitis
Vasculitis 		0.400 AlteredExpression disease BEFREE Low AAT serum levels did not correlate with either type/titre of autoantibody or distribution/severity of the vasculitis process. 9279535 1997
CUI: C0042384
Disease: Vasculitis
Vasculitis 		0.400 GeneticVariation disease BEFREE C-antineutrophil cytoplasmic antibody positivity in vasculitis patients is associated with the Z allele of alpha-1-antitrypsin, and P-antineutrophil cytoplasmic antibody positivity with the S allele. 8671812 1996
CUI: C0042384
Disease: Vasculitis
Vasculitis 		0.400 Biomarker disease BEFREE We consider alpha 1-AT phenotyping to be justified in cases of PR3-ANCA-positive vasculitis. 7474674 1995
CUI: C0042384
Disease: Vasculitis
Vasculitis 		0.400 GeneticVariation disease BEFREE To ascertain whether a relationship exists between the PiZ alpha 1-antitrypsin (alpha 1AT) variant and antineutrophil cytoplasm antibodies (ANCA)-positive vasculitis in a large group of Swedish patients, and whether analysis for the presence of the PiZ variant might be useful for diagnostic or prognostic purposes. 7964431 1994
CUI: C0042384
Disease: Vasculitis
Vasculitis 		0.400 GeneticVariation disease BEFREE Alpha 1-antitrypsin genetic polymorphism in ANCA-positive systemic vasculitis. 8315946 1993
CUI: C0042384
Disease: Vasculitis
Vasculitis 		0.400 Biomarker disease CTD_human This is the third reported case of systemic necrotizing vasculitis in association with alpha-1 antitrypsin deficiency of the PI ZZ type, and the first to show significant response to cyclophosphamide and steroids. 1684994 1991