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- Title
Novel SNPs in the CD18 gene validate the association with MPO-ANCA<sup>+</sup> vasculitis.
- Authors
Meller, S; Jagiello, P; Borgmann, S; Fricke, H; Epplen, J T; Gencik, M
- Abstract
Wegener granulomatosis (WG), microscopic polyangiitis (MP), and Churg-Strauss syndrome (CSS) are characterized by the presence of anti-neutrophil cytoplasmic antibodies (ANCA). Anti-myeloperoxidase (MPO)-ANCA are a typical feature of MP and CSS, while anti-proteinase 3 (PRTN3)-ANCA are highly specific for WG. Several reports indicate that ANCA may directly contribute to pathological processes, ie, through an increase of adhesivity between polymorphonuclear (PMN) and endothelial cells (EC). PMN interact and endothelium interact via the adhesion cascade (AC). CD18 is a key molecule of the AC, as CD18 defects abbrogate the adhesion of PMN and cause leukocyte adhesion deficiency, an immunodeficient trait. We have screened the entire coding and regulatory regions of the CD18 gene. Ten single nucleotide polymorphisms (SNP) were identified, four of them showing significant associations with MPO-ANCA[sup +] vasculitis. One of these SNP's was localized in an alternate transcription initiation site. This polymorphism may influence CD18 gene expression, resulting in dose-dependent increase in adhesion and consecutively facilitated degranulation and respiratory burst. In this manner the pro-adherent genotype may predispose to MPO-ANCA[sup +] vasculitis. Genes and Immunity (2001) 2, 269-272.
- Subjects
GENETIC polymorphisms; CD antigens; VASCULITIS; IMMUNOGLOBULINS; PEROXIDASE
- Publication
Genes & Immunity, 2001, Vol 2, Issue 5, p269
- ISSN
1466-4879
- Publication type
Article
- DOI
10.1038/sj.gene.6363781