COL17A1, collagen type XVII alpha 1 chain, 1308

N. diseases: 138; N. variants: 28
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 Biomarker disease BEFREE Bullous pemphigoid (BP) is an autoimmune blistering disease associated with autoantibodies against BP180 and/or BP230 antigens. 31603994 2020
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 Biomarker disease BEFREE We predict that future studies of gliptin-associated BP will offer valuable information concerning autoimmunity against BP180 and may also shed light on the pathology of autoimmune diseases in general. 30904079 2019
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 AlteredExpression disease BEFREE It is due to the formation of autoantibodies directed against different epitopes of bullous pemphigoid (BP) 180 as a consequence of the aberrant expression of BP180 in the placental tissue of genetically predisposed women. 30375213 2019
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 AlteredExpression disease BEFREE We aimed to determine the diagnostic performance of anti-BP180 IgG and anti-BP230 IgG in BP, to correlate disease activity with autoantibody levels through follow-ups, and to relate BP comorbidities with disease activity and autoantibody levels. 31175713 2019
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 Biomarker disease BEFREE Our results suggest that the autoantibodies against BP180 alone are not sufficient to induce BP in MS and AD patients. 30315782 2019
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 Biomarker disease BEFREE <b>Conclusion:</b> Development of anti-BP180 autoantibodies occurs at a higher frequency after stroke, suggesting BP180 as a relatively common autoantigen after stroke and providing novel insights into BP pathogenesis in aging. 30863396 2019
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 AlteredExpression disease BEFREE We have subsequently found several lines of evidence suggesting a significant role of IL-17A in the BP pathogenesis: (i) IL-17A activated human neutrophils in vitro, (ii) inhibition of dermal-epidermal separation in cryosections of human skin incubated with anti-BP180 IgG and subsequently with anti-IL-17A IgG-treated leukocytes, (iii) close correlation of serum IL-17A levels and diseases activity in a mouse model of BP, (iv) IL17A-deficient mice were protected against autoantibody-induced BP, and (v) pharmacological inhibition of lL-17A reduced the induction of BP in mice. 30219389 2019
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 Biomarker disease BEFREE This is the first such case documented in a non-Japanese patient, thus, lending further support to the pathogenic relevance of anti-LAD-1 IgG in BP. 31474998 2019
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 Biomarker disease BEFREE Biochip detection of BP180 autoantibodies in blister fluid for the serodiagnosis of bullous pemphigoid: A pilot study. 30762788 2019
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 Biomarker disease BEFREE The odds ratio for the development of BP-IgG autoantibodies detected by full-length BP180 ELISA was 2.070 for DPP-4i (+). 31297116 2019
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 Biomarker disease BEFREE Fc-binding proteins enhance autoantibody-induced BP180 depletion in pemphigoid. 30426510 2019
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 AlteredExpression disease BEFREE Routine serological testing and follow-up of BP relies on indirect immunofluorescence (IIF) of serum Abs, commonly performed on monkey oesophagus (ME), and/or enzyme-linked immunosorbent assay (ELISA) testing on recombinantly produced fragments of BP180 and BP230 (BP180-NC16A, BP230-C/N). 30315657 2019
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 GeneticVariation disease BEFREE Most BP autoantibodies particularly target the epitopes within the non-collagenous NC16A domain of BP180. 31275298 2019
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 AlteredExpression disease BEFREE These patients' demographic characteristics and BP180 and BP230 levels were compared with those of a BP control group who were positive for BP180 or BP230 autoantibodies and had positive DIF study findings. 30928465 2019
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 Biomarker disease BEFREE The deposition of IgG subclasses and complement deposition were examined by direct immunofluorescence of the perilesional skin in 6 BP230-type BP cases and 11 BP180-BP230-type BP cases. 30394605 2019
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 Biomarker disease BEFREE Bullous pemphigoid (BP) is the most prevalent autoimmune skin blistering disease and is characterized by the generation of autoantibodies against the hemidesmosomal proteins BP180 (type XVII collagen) and BP230. 31824475 2019
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 Biomarker disease BEFREE There are several lines of evidence indicating that the physiopathological bases of bullous pemphigoid (BP), the most common subepidermal autoimmune bullous disease, are hallmarked by the production of autoantibodies directed against the hemidesmosomal anchoring proteins BP180 and BP230. 31312206 2019
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 Biomarker disease BEFREE BP 180 was the commonest positive substrate in pemphigoid (95%) with 78% sensitivity. 31211701 2019
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 Biomarker disease BEFREE Interestingly, Western blotting using plasmin-digested BP180 as a substrate revealed that all of the DPP4i-BP sera reacted more intensively with the 97-kDa processed extracellular domain of BP180, which is known as the LABD97 autoantigen, than full-length BP180 did. 31191560 2019
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 Biomarker disease BEFREE ELISA was performed on patient sera to identify any significant relationship between anti-BP180 NC16A/anti-BP230 values and BP disease activity. 29423547 2018
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 Biomarker disease BEFREE Bullous pemphigoid (BP) is a common autoimmune blistering disease in which autoantibodies mainly target the hemidesmosomal component BP180 (also known as type XVII collagen) in basal keratinocytes. 29706950 2018
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 Biomarker disease BEFREE Several observations support a pathogenic role of eosinophils in BP: IL-5, eotaxin, and eosinophil-colony stimulating factor are present in blister fluid; eosinophils line the dermo-epidermal junction (DEJ) in the presence of BP serum, metalloprotease-9 is released by eosinophils at the site of blisters; eosinophil degranulation proteins are found on the affected basement membrane zone as well as in serum corresponding with clinical disease; eosinophil extracellular DNA traps directed against the basement membrane zone are present, IL-5 activated eosinophils cause separation of the DEJ in the presence of BP serum; and eosinophils are the necessary cell required to drive anti-BP180 IgE mediated skin blistering. 30042946 2018
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 Biomarker disease BEFREE Two recently reported experimental murine models employing IgE autoantibodies against BP180 have been reported and the successful treatment of bullous pemphigoid with the anti-IgE antibody, omalizumab, supports the roles played by IgE autoantibodies in BP pathogenesis. 30325326 2018
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 Biomarker disease BEFREE Indirect immunofluorescence using healthy human skin showed a BP pattern in two of 10 samples containing antibodies against BP180/BP230 obtained from dementia group but not in the control samples. 30220011 2018
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 Biomarker disease BEFREE Bullous pemphigoid (BP), the most frequent autoimmune bullous disorder, is a paradigmatic autoantibody-mediated disease associated with autoantibodies against BP180 (type XVII collagen, Col17). 29599777 2018