The impact of the HLA DQB1 gene and amino acids on the development of narcolepsy

References

• Mignot E. Genetic and familial aspects of narcolepsy. Neurology. 1998;50(2 Suppl 1):S16–S22.
   PubMed Web of Science ®Google Scholar
• Simmonds MJ, Howson JM, Heward JM, et al. A novel and major association of HLA-C in Graves' disease that eclipses the classical HLA-DRB1 effect. Hum Mol Genet. 2007;16(18):2149–2153.
   PubMed Web of Science ®Google Scholar
• Newton JL, Harney SMJ, Wordsworth BP, et al. A review of the MHC genetics of rheumatoid arthritis. Genes Immun. 2004;5(3):151–157.
   PubMed Web of Science ®Google Scholar
• Singal DP, Blajchman MA. Histocompatibility (HL-A) antigens, lymphocytotoxic antibodies and tissue antibodies in patients with diabetes mellitus. Diabetes. 1973;22(6):429–432.
   PubMed Web of Science ®Google Scholar
• Lundström E, Källberg H, Smolnikova M, et al. Opposing effects of HLA-DRB1*13 alleles on the risk of developing anti-citrullinated protein antibody-positive and anti-citrullinated protein antibody-negative rheumatoid arthritis. Arthritis Rheumatism. 2009;60(4):924–930.
   PubMed Web of Science ®Google Scholar
• Stone TW. Kynurenines in the CNS: from endogenous obscurity to therapeutic importance. Prog Neurobiol. 2001;64(2):185–218.
   PubMed Web of Science ®Google Scholar
• Katsuki H, Akaike A. Excitotoxic degeneration of hypothalamic orexin neurons in slice culture. Neurobiol Dis. 2004;15(1):61–69.
   PubMed Web of Science ®Google Scholar
• Taheri S. The immune basis of narcolepsy: what is the evidence? Sleep Med Clin. 2017;12(3):279–287.
   PubMed Web of Science ®Google Scholar
• Sours JA. Narcolepsy and other disturbances in the sleep-waking rhythm: a study of 115 cases with review of the literature. J Nerv Ment Dis. 1963;137:525–542.
   PubMed Web of Science ®Google Scholar
• Carskadon MA, Dement WC, Mitler MM, et al. Guidelines for the multiple sleep latency test (MSLT): a standard measure of sleepiness. Sleep. 1986;9(4):519–524.
   PubMed Web of Science ®Google Scholar
• Han F, Lin L, Schormair B, et al. HLA DQB1*06:02 negative narcolepsy with hypocretin/orexin deficiency. Sleep. 2014;37(10):1601–1608.
   PubMed Web of Science ®Google Scholar
• Krahn LE, Pankratz VS, Oliver L, et al. Hypocretin (orexin) levels in cerebrospinal fluid of patients with narcolepsy: relationship to cataplexy and HLA DQB1* 0602 status. Sleep. 2002;25(7):733–736.
   PubMed Web of Science ®Google Scholar
• Dauvilliers Y, Montplaisir J, Molinari N, et al. Age at onset of narcolepsy in two large populations of patients in France and Quebec. Neurology. 2001;57(11):2029–2033.
   PubMed Web of Science ®Google Scholar
• Thorpy MJ, Krieger AC. Delayed diagnosis of narcolepsy: characterization and impact. Sleep Med.2014. 2014;15(5):502–507.
   Google Scholar
• Langdon N, Dam M, Welsh K, et al. Genetic markers in narcolepsy. Lancet. 1984;324(8413):1178–1180.
   Google Scholar
• Mueller‐Eckhardt G, Meier‐Ewert K, Schendel DJ, et al. HLA and narcolepsy in a German population. Tissue Antigens. 1986;28(3):163–169.
   PubMedGoogle Scholar
• Matsuki K, Honda Y, Juji T. Diagnostic criteria for narcolepsy and HLA-DR2 frequencies. Tissue Antigens. 1987;30(4):155–160.
   PubMedGoogle Scholar
• Mignot E, Lin L, Rogers W, et al. Complex HLA-DR and -DQ interactions confer risk of narcolepsy-cataplexy in three ethnic groups . Am J Hum Genet. 2001;68(3):686–699.
   PubMed Web of Science ®Google Scholar
• Hong SC, Lin L, Lo B, et al. DQB1*0301 and DQB1*0601 modulate narcolepsy susceptibility in Koreans. Hum Immunol. 2007;68(1):59–68.
   PubMed Web of Science ®Google Scholar
• Hor H, Kutalik Z, Dauvilliers Y, et al. Genome-wide association study identifies new HLA class II haplotypes strongly protective against narcolepsy. Nat Genet. 2010;42(9):786–789.
   PubMed Web of Science ®Google Scholar
• Bunce M, O'neill CM, Barnardo MCNM, et al. Phototyping: comprehensive DNA typing for HLA-A, B, C, DRB1, DRB3, DRB4, DRB5 & DQB1 by PCR with 144 primer mixes utilizing sequence-specific primers (PCR-SSP) . ). Tissue Antigens. 1995;46(5):355–367.
   PubMedGoogle Scholar
• Zamani M, Cassiman JJ. Reevaluation of the importance of polymorphic HLA class II alleles and amino acids in the susceptibility of individuals of different populations to type I diabetes. Am J Med Genet. 1998;76(2):183–194.
   PubMed Web of Science ®Google Scholar
• Okun ML, Lin L, Pelin Z, et al. Clinical aspects of narcolepsy-cataplexy across ethnic groups. Sleep. 2002;25(1):27–35.
   PubMed Web of Science ®Google Scholar
• Honda Y. Census of narcolepsy, cataplexy and sleep life among teenagers in Fujisawa city. Sleep. 1979;8:191.
   Google Scholar
• Kornum BR, Knudsen S, Ollila HM, et al. Narcolepsy. Nat Rev Dis Primers. 2017;3(1):1–19.
   Web of Science ®Google Scholar
• Overeem S, Black JL, III, Lammers GJ. Narcolepsy: immunological aspects. Sleep Med Rev. 2008;12(2):95–107.
   PubMed Web of Science ®Google Scholar
• Ahmed I, Thorpy M. Clinical features, diagnosis and treatment of narcolepsy. Clin Chest Med. 2010;31(2):371–381.
   PubMed Web of Science ®Google Scholar
• Longstreth WT, Jr, Koepsell TD, Ton TG, et al. The epidemiology of narcolepsy. Sleep. 2007;30(1):13–26.
   PubMed Web of Science ®Google Scholar
• Tafti M, et al. DQB1 locus alone explains most of the risk and protection in narcolepsy with cataplexy in Europe. Sleep. 2014;37(1):19–25.
   PubMed Web of Science ®Google Scholar
• Juji T, Satake M, Honda Y, et al. HLA antigens in Japanese patients with narcolepsy. All the patients were DR2 positive. Tissue Antigens. 1984;24(5):316–319.
   PubMed Web of Science ®Google Scholar
• Miyagawa T, Kawashima M, Nishida N, et al. Variant between CPT1B and CHKB associated with susceptibility to narcolepsy. Nat Genet. 2008;40(11):1324–1328.
   PubMed Web of Science ®Google Scholar
• Neely S, Rosenberg R, Spire JP, et al. HLA antigens in narcolepsy. Neurology. 1987;37(12):1858–1858.
   PubMed Web of Science ®Google Scholar
• Hor H, Bartesaghi L, Kutalik Z, et al. A missense mutation in myelin oligodendrocyte glycoprotein as a cause of familial narcolepsy with cataplexy. Am J Hum Genet. 2011; 89(3) :474–479.
   PubMed Web of Science ®Google Scholar
• Miyagawa T, Toyoda H, Hirataka A, et al. New susceptibility variants to narcolepsy identified in HLA class II region. Hum Mol Genet. 2015; 24(3) :891–898.
   PubMed Web of Science ®Google Scholar
• Roh EY, Park MH, Park H, et al. Association of HLA-DR and -DQ genes with narcolepsy in Koreans: comparison with two control groups, randomly selected subjects and DRB1*1501-DQB1*0602-positive subjects . Hum Immunol. 2006;67(9):749–755.
   PubMed Web of Science ®Google Scholar
• Siebold C, Hansen BE, Wyer JR, et al. Crystal structure of HLA-DQ0602 that protects against type 1 diabetes and confers strong susceptibility to narcolepsy. P Nat Acad Sci Usa. 2004; 101(7) :1999–2004.
   PubMed Web of Science ®Google Scholar
• Fontana A, Gast H, Reith W, et al. Narcolepsy: autoimmunity, effector T cell activation due to infection, or T cell independent, major histocompatibility complex class II induced neuronal loss? Brain. 2010; 133(Pt 5) :1300–1311.
   PubMed Web of Science ®Google Scholar
• Olafsdottir BR, Rye DB, Scammell TE, et al. Polymorphisms in hypocretin/orexin pathway genes and narcolepsy. Neurology. 2001; 57(10) :1896–1899.
   PubMed Web of Science ®Google Scholar
• Hungs M, Lin L, Okun M, et al. Polymorphisms in the vicinity of the hypocretin/orexin are not associated with human narcolepsy. Neurology. 2001; 57(10) :1893–1895.
   PubMed Web of Science ®Google Scholar
• Mahlios J, De la Herrán-Arita AK, Mignot E. The autoimmune basis of narcolepsy. Curr Opin Neurobiol. 2013; 23(5) :767–773.
   PubMed Web of Science ®Google Scholar