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

References

• O'Riordan S, Raymond D, Lynch T, Saunders-Pullman R, Bressman SB, Daly L, Hutchinson M. Age at onset as a factor in determining the phenotype of primary torsion dystonia. Neurology. 2004; 63:1423–1426.
   PubMed Web of Science ®Google Scholar
• Leube B, Kessler KR, Goecke T, Auburger G, Benecke R. Frequency of familial inheritance among 488 index patients with idiopathic focal dystonia and clinical variability in a large family. Mov Disord. 1997; 12:1000–1006.
   PubMed Web of Science ®Google Scholar
• Nutt JG, Muenter MD, Aronson A, Kurland LT, Meltone LJ3rd. Epidemiology of focal and generalized dystonia in Rochester, Minnesota. Mov Disord. 1988; 3:188–194.
   PubMed Web of Science ®Google Scholar
• Jankovic J, Tsui J, Bergeron C. Prevalence of cervical dystonia and spasmodic torticollis in the United States general population. Parkinsonism Relat Disord. 2007; 13:411–416.
   PubMed Web of Science ®Google Scholar
• Brancati F, Valente EM, Castori M, Vanacore N, Sessa M, Galardi G, Berardelli A, Bentivoglio AR, Defazio G, Girlanda P, Abbruzzese G, Albanese A, Dallapiccola B. Italian Movement Disorder Study Group. Role of the dopamine D5 receptor (DRD5) as a susceptibility gene for cervical dystonia. J Neurol Neurosurg Psychiatry. 2003; 74:665–666.
   PubMedGoogle Scholar
• Leube B, Hendgen T, Kessler KR, Knapp M, Benecke R, Auburger G. Evidence for DYT7 being a common cause of cervical dystonia (torticollis) in Central Europe. Am J Med Genet. 1997; 74:529–532.
   PubMed Web of Science ®Google Scholar
• Singer C, Velickovic M. Cervical dystonia: Etiology and pathophysiology. Neurol Clin. 2008; 26 Suppl. 1: 9–22.
   PubMedGoogle Scholar
• Contarino MF, Berger-Plantinga E, Foncke EM, Ritz K, Mellema J, Baas F, Speelman JD, Tijssen MA. Clinical and genetic characterization of a large Dutch family with primary focal dystonia. Mov Disord. 2008; 23:1998–2003.
   PubMed Web of Science ®Google Scholar
• Jankovic J. Treatment of cervical dystonia with botulinum toxin. Mov Disord. 2004; 19 Suppl. 8: S109–S115.
   PubMedGoogle Scholar
• Atassi MZ. Basic immunological aspects of botulinum toxin therapy. Mov Disord. 2004; 19 Suppl. 8: S68–S84.
   PubMed Web of Science ®Google Scholar
• Moore AP, Behan PO, Behan WMH. Lymphocyte subset abnormalities in patients with spasmodic torticollis. Acta Neurol Scand. 1986; 74:371–378.
   PubMed Web of Science ®Google Scholar
• Klitz W, Maiers M, Spellman S, Baxter-Lowe LA, Schmeckpeper B, Williams TM, Fernandez-Viña M. New HLA haplotype frequency reference standards: High-resolution and large sample typing of HLA DR-DQ haplotypes in a sample of European Americans. Tissue Antigens. 2003; 62:296–307.
   PubMedGoogle Scholar
• Maiers M, Gragert L, Klitz W. High-resolution HLA alleles and haplotypes in the United States population. Hum Immunol. 2007; 68:779–788.
   PubMed Web of Science ®Google Scholar
• Zar JH. Biostatistical analysis. Englewood Cliffs, NJ: Prentice Hall; 1996.
   Google Scholar
• Pera C, Delfino L, Longo A, Pistillo MP, Ferrara GB. Novel associations among HLA-DQA1 and -DQB1 alleles revealed by high-resolution sequence-based typing (SBT). Tissue Antigens. 2000; 55:275–279.
   PubMedGoogle Scholar
• Fisher Exact Test, see pp. 540–52 of Zar 1996 [14].
   Google Scholar
• Poisson distribution, pp. 569–72, -based goodness of fit, pp. 573–6 of Zar, 1996 [14].
   Google Scholar
• Although relative frequency is derived from absolute frequency/sample size, binomial probability predicts that there is a range of “real” relative frequencies in a population (in this case all Caucasian Americans) for each type that can explain any given absolute frequency observed in a sample (n = 3798), In this Poisson based analysis the NLPGE ranges for patient types a function of this source of variation, and these values are interpreted as probabilities based on the NLPGE of the Monte Carlo simulation results (1,000,000 permutations).
   Google Scholar
• The typing performed could not distinguish homozygotes from missing loci on one chromosome; however DQA1, DQB1 and DRB1 nulls have not been noted in high resolution haplotype determination in the literature for Caucasian Americans [12, 13], Therefore homozygotes designate that only one allele, unambiguously, could be detected at a locus. For DQB1*0604 hz individuals were monoallelic for DRB1, DQA1 and DQB1, but not DPB1.
   Google Scholar
• In Klitz et al. 2003[12], 158 occurrences of DRB1*1302 in controls, 129 are within the DRB1*1302:DQB1*0604 haplotype, however all of the 129 DQB1*0604 were within the DRB1*1302:DQB1*0604, In Maiers et al. (2007) [13] 414 of 518 DRB1*1302 are DRB1*1302:DQB1*0604; however 2 of the 416 DQB1*0604 were not DRB1*1302:DQB1*0604.
   Google Scholar
• Pearson's goodness-of-fit, see pp. 457–571 of Zar 1996 [14]; Log-likelihood ratio, see pp. 502–3 of Zar 1996 [14].
   Google Scholar
• Pacho A, Mancebo E, del Rey MJ, Castro MJ, Oliver D, Garcia-Berciano M, Gonzalez L, Morales P. HLA haplotypes associated with hemochromatosis mutations in the Spanish population. BMC Med Genet. 2004; 5:25–29.
   PubMedGoogle Scholar
• Margaritte-Jeanin P, Babron MC, Bourgey M, Louka AS, Clot F, Percopo S, Coto I, Hugot JP, Ascher H, Sollid LM, Greco L, Clerget-Darpoux F. HLA-DQ relative risks for coeliac disease in European populations: A study of the European Genetics Cluster on Coeliac Disease. Tissue Antigens. 2004; 63:562–567.
   PubMedGoogle Scholar
• Karell K, Louka AS, Moodie SJ, Ascher H, Clot F, Greco L, Ciclitira PJ, Sollid LM, Partanen J, Members of the European Genetic Cluster on Celiac Disease. HLA types in celiac disease patients not carrying the DQA1*05-DQB1*02 (DQ2) heterodimer: Results from the European Genetic Cluster on Celiac Disease. Hum Immunol. 2003; 64:469–477.
   PubMed Web of Science ®Google Scholar
• Atassi MZ, Casali P. Molecular mechanisms of autoimmunity. Autoimmunity. 2008; 41:123–132.
   PubMed Web of Science ®Google Scholar
• Shinomiya N, Nomura Y, Segawa M. A variant of childhood-onset myasthenia gravis: HLA typing and clinical characteristics in Japan. Clin Immunol. 2004; 110:154–158.
   PubMed Web of Science ®Google Scholar