RGD Reference Report - 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. - Rat Genome Database

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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.

Authors: Deitiker, PR  Oshima, M  Jankovic, J  Duane, DD  Aoki, KR  Atassi, MZ 
Citation: Deitiker PR, etal., Autoimmunity. 2011 May;44(3):167-76. Epub 2010 Sep 15.
RGD ID: 5147570
Pubmed: (View Article at PubMed) PMID:20843162
DOI: Full-text: DOI:10.3109/08916934.2010.509121

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.

Annotation

Disease Annotations    
cervical dystonia  (IAGP,ISO)

Objects Annotated

Genes (Rattus norvegicus)
RT1-Bb  (RT1 class II, locus Bb)

Genes (Mus musculus)
H2-Ab1  (histocompatibility 2, class II antigen A, beta 1)

Genes (Homo sapiens)
HLA-DQB1  (major histocompatibility complex, class II, DQ beta 1)


Additional Information