title: Polymorphic amino acid domains of the HLA-DQ molecule are associated with disease heterogeneity in myasthenia gravis.
abstract: The association between myasthenia gravis (MG) and polymorphic amino acid domains in the HLA-DQ molecule was studied in 79 Swedish patients and 155 unrelated, population-based controls. A domain unique for DQB1*0201 was positively associated in MG patients with thymic hyperplasia or an early disease onset, and two domains with residues common to DQA1*01 alleles or DQB1*05 and DQB1*06 alleles were negatively associated in patients with thymic hyperplasia or an early disease onset. Our results suggest that MG associated with thymic hyperplasia and thymoma differ in their HLA-DQ association and thus are likely to have different pathogenic mechanisms.
authors.affiliation: Department of Molecular Medicine, Karolinska Institute, Karolinska Hospital, Stockholm, Sweden.
authors.forename: P
authors.initials: P
authors.lastname: Hjelmström
authors.forename: R
authors.initials: R
authors.lastname: Giscombe
authors.forename: A K
authors.initials: AK
authors.lastname: Lefvert
authors.forename: R
authors.initials: R
authors.lastname: Pirskanen
authors.forename: I
authors.initials: I
authors.lastname: Kockum
authors.forename: M
authors.initials: M
authors.lastname: Landin-Olsson
authors.forename: C B
authors.initials: CB
authors.lastname: Sanjeevi
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000595:Amino Acid Sequence; D002648:Child; D005091:Exons; D005260:Female; D006683:HLA-DQ Antigens / Q000235:genetics*; D059848:HLA-DQ alpha-Chains; D059866:HLA-DQ beta-Chains; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009157:Myasthenia Gravis / Q000235:genetics* / Q000276:immunology* / Q000503:physiopathology; D011110:Polymorphism, Genetic
chemical_list: D006683:HLA-DQ Antigens; D059848:HLA-DQ alpha-Chains; D059866:HLA-DQ beta-Chains; C069050:HLA-DQA1 antigen; C069051:HLA-DQB1 antigen