title: Molecular genetic studies of major histocompatibility complex genes in children with juvenile dermatomyositis: increased risk associated with HLA-DQA1 *0501.
abstract: Juvenile dermatomyositis (JDMS) is an inflammatory disease associated with HLA-DR3. We therefore undertook molecular genetic studies of HLA region genes to determine whether HLA-DR3 itself confers susceptibility to JDMS or whether susceptibility is conferred by alleles in linkage disequilibrium with HLA-DR3. Our results indicate that JDMS is associated with the HLA-DQA1 allele DQA1 *0501 on non-DR3 haplotypes in Caucasian JDMS. Furthermore, the reported of association between the C4A gene deletion and JDMS is likely due to linkage disequilibrium with HLA-DR3.
authors.affiliation: Division of Immunology/Rheumatology, Children's Memorial Hospital, Northwestern University Medical School, Chicago, Illinois.
authors.forename: A M
authors.initials: AM
authors.lastname: Reed
authors.forename: L
authors.initials: L
authors.lastname: Pachman
authors.forename: C
authors.initials: C
authors.lastname: Ober
mesh_terms: D000293:Adolescent; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000032:analysis; D003882:Dermatomyositis / Q000235:genetics*; D004198:Disease Susceptibility; D004587:Electrophoresis, Agar Gel; D005260:Female; D005802:Genes, MHC Class II / Q000235:genetics*; D006683:HLA-DQ Antigens / Q000235:genetics*; D059848:HLA-DQ alpha-Chains; D015803:HLA-DR3 Antigen / Q000235:genetics; D006801:Humans; D007223:Infant; D015810:Linkage Disequilibrium; D008297:Male; D008967:Molecular Biology; D016133:Polymerase Chain Reaction; D012307:Risk Factors
chemical_list: D006683:HLA-DQ Antigens; D059848:HLA-DQ alpha-Chains; C069050:HLA-DQA1 antigen; D015803:HLA-DR3 Antigen; D004247:DNA