title: Enhanced frequency of a PTPRC (CD45) exon A mutation (77C-->G) in systemic sclerosis.
abstract: A point mutation in exon A (C to G transversion at position 77) of human PTPRC (CD45) has recently been associated with the development of multiple sclerosis (MS) for at least a subgroup of patients. In the present report, we studied the frequency of the 77C-->G transversion in two other autoimmune diseases namely systemic sclerosis (SSc) and systemic lupus erythematosus (SLE). The mutation was found with significantly enhanced frequency in patients suffering from SSc suggesting that PTPRC could play a role as susceptibility gene not only in MS but also in other autoimmune diseases. Further understanding of the mode of interaction of mutant PTPRC with other susceptibility genes may uncover mechanisms common in various autoimmune disorders.
authors.affiliation: Transplantionslabor, Klinik für Viszeral-und Transplantationschirugie, Zentrum Chirugie. schwinzer.reinhard@mh-hannover.de
authors.forename: R
authors.initials: R
authors.lastname: Schwinzer
authors.forename: T
authors.initials: T
authors.lastname: Witte
authors.forename: J
authors.initials: J
authors.lastname: Hundrieser
authors.forename: S
authors.initials: S
authors.lastname: Ehlers
authors.forename: T
authors.initials: T
authors.lastname: Momot
authors.forename: N
authors.initials: N
authors.lastname: Hunzelmann
authors.forename: T
authors.initials: T
authors.lastname: Krieg
authors.forename: R E
authors.initials: RE
authors.lastname: Schmidt
authors.forename: K
authors.initials: K
authors.lastname: Wonigeit
mesh_terms: D005091:Exons; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D017493:Leukocyte Common Antigens / Q000235:genetics*; D008180:Lupus Erythematosus, Systemic / Q000235:genetics; D009103:Multiple Sclerosis / Q000235:genetics; D017354:Point Mutation; D012595:Scleroderma, Systemic / Q000235:genetics*
chemical_list: D017493:Leukocyte Common Antigens