title: [Genetic analysis in collagen vascular diseases].
abstract: Genetic risk factors are known to exist for all collagen vascular diseases. They are most important for systemic lupus erythematosus (SLE) and systemic scleroderma (SSc), as shown by the systematic analysis of family data. Both diseases to date share most of the validated risk factors (PTPN22, STAT4, BANK1, TNFAIP3, IRF5, BLK) underlining once again their relationship. Moreover, most of these factors were also shown to be associated with other autoimmune diseases. Many additional risk factors exist, but need further analysis. The HLA complex is of special interest, as many loci within this region, some highly polymorphic, may contribute to the total genetic risk.
authors.affiliation: Klinische Forschergruppe für Rheumatologie, Freiburg, Deutschland. inga.melchers@uniklinik-freiburg.de
authors.forename: I
authors.initials: I
authors.lastname: Melchers
mesh_terms: D003095:Collagen Diseases / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008957:Models, Genetic; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D014652:Vascular Diseases / Q000235:genetics*
chemical_list: D005819:Genetic Markers