title: Association of HLA-DRB1∗14, -DRB1∗16 and -DQB1∗05 with MuSK-myasthenia gravis in patients from Turkey.
abstract: Susceptibility to myasthenia gravis (MG) has been demonstrated with several HLA in different disease subgroups. HLA-DR14, -DR16 and -DQ5 were reported as predisposing factors in muscle-specific kinase antibody positive MG (MuSK-MG). These markers were evaluated in MG subgroups from Turkey. Among 164 generalized MG patients, 116 had antibodies against anti-acetylcholine receptor (AChR-MG) and 48 had MuSK-MG. Only HLA-DRB1 and DQB1 allele groups reported to be associated with MuSK-MG were compared with 250 healthy controls (HC). Highly significant associations of both DRB1(∗)16 and DRB1(∗)14 were found with MuSK-MG compared to HC (p = 1.9 × 10(-5), OR: 4.95 and p = 0.0028, OR: 3.1). On the contrary, HLA-DRB1(∗)03 was less frequent in MuSK-MG (p = 0.006, OR: 0.09). DQB1(∗)05 was also associated with MuSK-MG (p = 2.5 × 10(-6) OR: 4.8). This study provides a replication of the highly significant associations of both HLA-DRB1(∗)16,-DRB1(∗)14 and -DQB1(∗)05 with MuSK-MG. Moreover, HLA-DRB1(∗)03 appears to have a distinguishing role for this disease subgroup compared to early-onset and AChR-MG.
authors.affiliation: Department of Physiology, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
authors.forename: Mahdi
authors.initials: M
authors.lastname: Alahgholi-Hajibehzad
authors.forename: Vuslat
authors.initials: V
authors.lastname: Yilmaz
authors.forename: Yesim
authors.initials: Y
authors.lastname: Gülsen-Parman
authors.forename: Fikret
authors.initials: F
authors.lastname: Aysal
authors.forename: Piraye
authors.initials: P
authors.lastname: Oflazer
authors.forename: Feza
authors.initials: F
authors.lastname: Deymeer
authors.forename: Güher
authors.initials: G
authors.lastname: Saruhan-Direskeneli
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000483:Alleles; D005229:Fatty Acids, Monounsaturated; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D059866:HLA-DQ beta-Chains / Q000235:genetics*; D059811:HLA-DRB1 Chains / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D009157:Myasthenia Gravis / Q000235:genetics* / Q000276:immunology*; D020794:Receptor Protein-Tyrosine Kinases / Q000276:immunology*; D011950:Receptors, Cholinergic / Q000276:immunology*; D014421:Turkey; D055815:Young Adult
chemical_list: D005229:Fatty Acids, Monounsaturated; D059866:HLA-DQ beta-Chains; C069051:HLA-DQB1 antigen; D059811:HLA-DRB1 Chains; D011950:Receptors, Cholinergic; C008563:musk; C095714:MUSK protein, human; D020794:Receptor Protein-Tyrosine Kinases