title: HLA and ethnic associations among systemic sclerosis patients with anticentromere antibodies.
abstract: SSc with ACAs is characterized by limited cutaneous involvement and, in most patients, a mild protracted course. We have studied 104 SSc patients, 47 with ACAs and 57 who were negative for both ACAs and anti-topo I antibodies, for HLA-DR and -DQ associations using DNA typing techniques. Normal controls consisted of 181 healthy individuals. A significant association was observed in the ACA-positive patients with DQB1-0501 (p = 0.001, RR 2.6). There was also a significant decrease in the frequency of DQB1-0201 (p = 0.01, RR 0.33). In addition, the ACA-positive SSc patients were significantly different ethnically from both the other SSc patients and the normal controls (p = 0.004). When patients were stratified according to their ethnic origin and the analysis of HLA associations was repeated, the HLA associations persisted. These results strongly suggest that the development of SSc with ACAs is associated with particular DQB1 alleles, and also that ethnic origin plays a role in disease susceptibility.
authors.affiliation: Division of Rheumatology and Clinical Immunology, University of Pittsburgh School of Medicine, Pennsylvania, USA.
authors.forename: P A
authors.initials: PA
authors.lastname: Morel
authors.forename: H J
authors.initials: HJ
authors.lastname: Chang
authors.forename: J W
authors.initials: JW
authors.lastname: Wilson
authors.forename: C
authors.initials: C
authors.lastname: Conte
authors.forename: D
authors.initials: D
authors.lastname: Falkner
authors.forename: D J
authors.initials: DJ
authors.lastname: Tweardy
authors.forename: T A
authors.initials: TA
authors.lastname: Medsger
mesh_terms: D000328:Adult; D000483:Alleles; D000974:Antibodies, Antinuclear / Q000276:immunology*; D001323:Autoantibodies / Q000276:immunology*; D002503:Centromere / Q000276:immunology*; D004264:DNA Topoisomerases, Type I / Q000276:immunology*; D004198:Disease Susceptibility / Q000208:ethnology / Q000276:immunology; D005006:Ethnicity / Q000235:genetics*; D005060:Europe / Q000208:ethnology; D005061:Europe, Eastern / Q000208:ethnology; D005260:Female; D020022:Genetic Predisposition to Disease; D006683:HLA-DQ Antigens / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D010414:Pennsylvania / Q000453:epidemiology; D012595:Scleroderma, Systemic / Q000208:ethnology / Q000235:genetics* / Q000276:immunology; D044465:White People / Q000235:genetics
chemical_list: D000974:Antibodies, Antinuclear; D001323:Autoantibodies; D006683:HLA-DQ Antigens; D004264:DNA Topoisomerases, Type I