title: Association of HLA Class II alleles and haplotypes with cervical dystonia: HLA DR13-DQ6 (DQB1*0604) homozygotes are at greatly increased risk of cervical dystonia in Caucasian Americans.
abstract: An unanticipated discovery was made while examining genetics of the immune response in patients treated with botulinum neurotoxin (BoNT), which included cervical dystonia (CD) patients. Initial examination of HLA DQA1:DQB1 frequencies revealed an unexpectedly high number of DQA1*0102:DQB1*0604 homozygotes (hz) in the CD patients. We typed the BoNT-treated CD Caucasian subset for HLA-DRB1, DQA1, and DQB1 and succeeded in typing HLA-DRB1, -DQA1, and -DQB1 for 75 of the patients. Two statistical methods found the DQB1 locus associated with CD and one method found a probable association of DQB1*0604. Examination of the allele and haplotype pairing indicated that DQB1*0604 hz comprised most to all of the positive association. Other than this genotype, one other allele, DQB1*0504 contributes to the association of the DQB1 locus. These findings indicate a probable infectious and/or autoimmune component in some CD patients. However, longer distance associations within an extended and conserved DQB1*0604 bearing haplotype leave a possibility that a locus proximal to DQB1 might be involved.
authors.affiliation: Department of Biochemistry, Baylor College of Medicine, Houston, TX 77030, USA.
authors.forename: Philip R
authors.initials: PR
authors.lastname: Deitiker
authors.forename: Minako
authors.initials: M
authors.lastname: Oshima
authors.forename: Joseph
authors.initials: J
authors.lastname: Jankovic
authors.forename: Drake D
authors.initials: DD
authors.lastname: Duane
authors.forename: K Roger
authors.initials: KR
authors.lastname: Aoki
authors.forename: M Zouhair
authors.initials: MZ
authors.lastname: Atassi
mesh_terms: D000483:Alleles; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006683:HLA-DQ Antigens / Q000235:genetics*; D059866:HLA-DQ beta-Chains; D006239:Haplotypes / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008562:Membrane Glycoproteins / Q000235:genetics*; D009010:Monte Carlo Method; D018570:Risk Assessment; D014103:Torticollis / Q000235:genetics*; D044465:White People / Q000235:genetics*
chemical_list: D006683:HLA-DQ Antigens; D059866:HLA-DQ beta-Chains; C069051:HLA-DQB1 antigen; D008562:Membrane Glycoproteins