Genetics of narcolepsy

Sleep Medicine Clinics

Volumn 6, Issue 2, 2011, Pages 217-228

  Faraco, Juliette ^a   Mignot, Emmanuel ^a  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Autoimmune; Genetics; Human leukocyte antigen; Hypocretin; Narcolepsy; Orexin

Indexed keywords

AUTOANTIBODY; LEUKOCYTE ANTIGEN; OREXIN;

ALLELE; AUTOIMMUNITY; CATAPLEXY; CD8+ T LYMPHOCYTE; CEREBELLAR ATAXIA; ENVIRONMENTAL FACTOR; GENE EXPRESSION; GENE LOCUS; GENETIC ASSOCIATION; GENETIC DISORDER; GENETICS; HAPLOTYPE; HEARING IMPAIRMENT; HISTOCOMPATIBILITY COMPLEX; HUMAN; MONOZYGOTIC TWINS; NARCOLEPSY; NATURAL KILLER CELL; NIEMANN PICK DISEASE; NONHUMAN; NORRIE DISEASE; PRADER WILLI SYNDROME; PRIORITY JOURNAL; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; T LYMPHOCYTE;

EID: 79958060212     PISSN: 1556407X     EISSN: 15564088     Source Type: Journal    
DOI: 10.1016/j.jsmc.2011.03.001     Document Type: Review

References (72)

1. Juji T, Satake M, Honda Y, et al. HLA antigens in Japanese patients with narcolepsy. All the patients were DR2 positive. Tissue Antigens 1984;24:316-9.
2. Marcadet A, Gebuhrer L, Betuel H, et al. DNA polymorphism related to HLA-DR2 Dw2 in patients with narcolepsy. Immunogenetics 1985;22:679-83. (Pubitemid 16232331)
3. Mueller-Eckhardt G, Strohmaier P, Schendel DJ, et al. Possible male segregation distortion of DR2 haplotypes in narcolepsy patients. HumImmunol 1987;20:189-93. (Pubitemid 18014217)
4. Neely S, Rosenberg R, Spire JP, et al. HLA antigens in narcolepsy. Neurology 1987;37:1858-60. (Pubitemid 18026366)
5. Matsuki K, Grumet FC, Lin X, et al. DQ (rather than DR) gene marks susceptibility to narcolepsy. Lancet 1992;339:1052.
6. Mignot E, Kimura A, Lattermann A, et al. Extensive HLA class II studies in 58 non-DRB1*15 (DR2) narcoleptic patients with cataplexy. Tissue Antigens 1997;49:329-41. (Pubitemid 27174284)
7. Matsuki K, Honda Y, Juji T. Diagnostic criteria for narcolepsy and HLA-DR2 frequencies. Tissue Antigens 1987;30:155-60. (Pubitemid 17160904)
8. Mignot E, Hayduk R, Black J, et al. HLA DQB1*0602 is associated with cataplexy in 509 narcoleptic patients. Sleep 1997;20:1012-20. (Pubitemid 28042450)
9. Lin L, Mignot E. Human leukocyte antigen and narcolepsy: present status and relationship with familial history and hypocretin deficiency. In: Bassetti C, Billiard M, Mignot E, editors. Narcolepsy and hypersomnia. New York: Informa Healthcare; 2007. p. 411-26 London.
10. Pelin Z, Guilleminault C, Risch N, et al. HLADQB1* 0602 homozygosity increases relative risk for narcolepsy but not disease severity in two ethnic groups. US Modafinil in Narcolepsy Multicenter Study Group. Tissue Antigens 1998;51:96-100. (Pubitemid 28014550)
11. 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;68:686-99. (Pubitemid 32202763)
12. Hong SC, Lin L, Lo B, et al. DQB1*0301 and DQB1*0601 modulate narcolepsy susceptibility in Koreans. Hum Immunol 2007;68:59-68. (Pubitemid 46026883)
13. Watson NF, Ton TG, Koepsell TD, et al. Does narcolepsy symptom severity vary according to HLA-DQB1* 0602 allele status? Sleep 2010;33:29-35.
14. 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;42:786-9.
15. Kwok WW, Kovats S, Thurtle P, et al. HLA-DQ allelic polymorphisms constrain patterns of class II heterodimer formation. J Immunol 1993;150:2263-72. (Pubitemid 23127471)
16. Margaritte-Jeannin P, Babron MC, Bourgey M, et al. HLA-DQ relative risks for coeliac disease in European populations: a study of the European Genetics Cluster on Coeliac Disease. Tissue Antigens 2004;63:562-7. (Pubitemid 38748006)
17. Koeleman BP, Lie BA, Undlien DE, et al. Genotype effects and epistasis in type 1 diabetes and HLA-DQ trans dimer associations with disease. Genes Immun 2004;5:381-8. (Pubitemid 39139766)
18. Chabas D, Taheri S, Renier C, et al. The genetics of narcolepsy. Annu Rev Genomics Hum Genet 2003;4:459-83. (Pubitemid 37392931)
19. Overeem S, Verschuuren JJ, Fronczek R, et al. Immunohistochemical screening for autoantibodies against lateral hypothalamic neurons in human narcolepsy. J Neuroimmunol 2006;174:187-91.
20. Scammell TE. The frustrating and mostly fruitless search for an autoimmune cause of narcolepsy. Sleep 2006;29:601-2.
21. Cvetkovic-Lopes V, Bayer L, Dorsaz S, et al. Elevated Tribbles homolog 2-specific antibody levels in narcolepsy patients. J Clin Invest 2010;120:713-9.
22. Kawashima M, Lin L, Tanaka S, et al. Anti-Tribbles homolog 2 (TRIB2) autoantibodies in narcolepsy are associated with recent onset of cataplexy. Sleep 2010;33:869-74.
23. Toyoda H, Tanaka S, Miyagawa T, et al. Anti-Tribbles homolog 2 autoantibodies in Japanese patients with narcolepsy. Sleep 2010;33:875-8.
24. Lim AS, Scammell TE. The trouble with Tribbles: do antibodies against TRIB2 cause narcolepsy? Sleep 2010;33:857-8.
25. Mignot E. Genetic and familial aspects of narcolepsy. Neurology 1998;50:S16-22.
26. Longstreth WT Jr, Ton TG, Koepsell T, et al. Prevalence of narcolepsy in King County, Washington, USA. Sleep Med 2009;10:422-6.
27. Mignot E, Lin L, Finn L, et al. Correlates of sleep-onset REM periods during the Multiple Sleep Latency Test in community adults. Brain 2006;129:1609-23. (Pubitemid 43999391)
28. Singh M, Drake CL, Roth T. The prevalence of multiple sleep-onset REM periods in a population-based sample. Sleep 2006;29:890-5.
29. Schenck CH, Bassetti CL, Arnulf I, et al. English translations of the first clinical reports on narcolepsy and cataplexy by Westphal and Gelineau in the late 19th century, with commentary. J Clin Sleep Med 2007;3:301-11.
30. Billiard M, Laberti M, Reygrobellet C, et al. Elevated antibodies to streptococcal antigens in narcoleptic subjects. Sleep Res 1989;18:201.
31. Aran A, Lin L, Nevsimalova S, et al. Elevated anti-streptococcal antibodies in patients with recent narcolepsy onset. Sleep 2009;32:979-83.
32. Koepsell TD, Longstreth WT, Ton TG. Medical exposures in youth and the frequency of narcolepsy with cataplexy: a population-based case-control study in genetically predisposed people. J Sleep Res 2010;19:80-6.
33. Dauvilliers Y, Montplaisir J, Cochen V, et al. Post H1N1 narcolepsy-cataplexy. Sleep 2010;33:1428-30.
34. Nishino S. Clinical and neurobiological aspects of narcolepsy. Sleep Med 2007;8:373-99. (Pubitemid 46722263)
35. Lin L, Faraco J, Li R, et al. The sleep disorder canine narcolepsy is caused by a mutation in the hypocretin (orexin) receptor 2 gene. Cell 1999;98:365-76. (Pubitemid 29380571)
36. Sakurai T, Amemiya A, Ishii M, et al. Orexins and orexin receptors: a family of hypothalamic neuro-peptides and G protein-coupled receptors that regulate feeding behavior. Cell 1998;92:573-85. (Pubitemid 28101119)
37. de Lecea L, Kilduff TS, Peyron C, et al. The hypocretins: hypothalamus-specific peptides with neuroexcitatory activity. Proc Natl Acad Sci U S A 1998;95:322-7. (Pubitemid 28103952)
38. Chemelli RM, Willie JT, Sinton CM, et al. Narcolepsy in orexin knockout mice: molecular genetics of sleep regulation. Cell 1999;98:437-51. (Pubitemid 29402482)
39. Hara J, Beuckmann CT, Nambu T, et al. Genetic ablation of orexin neurons in mice results in narcolepsy, hypophagia, and obesity. Neuron 2001;30:345-54. (Pubitemid 32530580)
40. Beuckmann CT, Sinton CM, Williams SC, et al. Expression of a poly-glutamine-ataxin-3 transgene in orexin neurons induces narcolepsy-cataplexy in the rat. J Neurosci 2004;24:4469-77. (Pubitemid 38608158)
41. Hara J, Yanagisawa M, Sakurai T. Difference in obesity phenotype between orexin-knockout mice and orexin neuron-deficient mice with same genetic background and environmental conditions. Neurosci Lett 2005;380:239-42. (Pubitemid 40616087)
42. Fujiki N, Yoshida Y, Zhang S, et al. Sex difference in body weight gain and leptin signaling in hypocretin/ orexin deficient mouse models. Peptides 2006;27:2326-31. (Pubitemid 44437559)
43. Zhang S, Zeitzer JM, Sakurai T, et al. Sleep/wake fragmentation disrupts metabolism in a mouse model of narcolepsy. J Physiol 2007;581:649-63. (Pubitemid 46831762)
44. Willie JT, Chemelli RM, Sinton CM, et al. Distinct narcolepsy syndromes in Orexin receptor-2 and Orexin null mice: molecular genetic dissection of non-REM and REM sleep regulatory processes. Neuron 2003;38:715-30. (Pubitemid 36694779)
45. Nishino S, Ripley B, Overeem S, et al. Hypocretin (orexin) deficiency in human narcolepsy. Lancet 2000;355:39-40. (Pubitemid 30072183)
46. Peyron C, Faraco J, Rogers W, et al. A mutation in a case of early onset narcolepsy and a generalized absence of hypocretin peptides in human narcoleptic brains. Nat Med 2000;6:991-7.
47. Thannickal TC, Moore RY, Nienhuis R, et al. Reduced number of hypocretin neurons in human narcolepsy. Neuron 2000;27:469-74.
48. Hungs M, Lin L, Okun M, et al. Polymorphisms in the vicinity of the hypocretin/orexin are not associated with human narcolepsy. Neurology 2001;57:1893-5. (Pubitemid 33096703)
49. Olafsdottir BR, Rye DB, Scammell TE, et al. Polymorphisms in hypocretin/orexin pathway genes and narcolepsy. Neurology 2001;57:1896-9. (Pubitemid 33096704)
50. Miyagawa T, Honda M, Kawashima M, et al. Polymorphism located between CPT1B and CHKB, and HLA-DRB1*1501-DQB1*0602 haplotype confer susceptibility to CNS hypersomnias (essential hypersomnia). PLoS One 2009;4:e5394.
51. Hallmayer J, Faraco J, Lin L, et al. Narcolepsy is strongly associated with the T-cell receptor α locus. Nat Genet 2009;41:708-11.
52. Kalogiannis M, Grupke SL, Potter PE, et al. Narcoleptic orexin receptor knockout mice express enhanced cholinergic properties in laterodorsal tegmental neurons. Eur J Neurosci 2010;32:130-42.
53. Dauvilliers Y, Blouin JL, Neidhart E, et al. Anarcolepsy susceptibility locus maps to a 5 Mb region of chromosome 21q. Ann Neurol 2004;56:382-8. (Pubitemid 39166557)
54. Nakayama J, Miura M, Honda M, et al. Linkage of human narcolepsy with HLA association to chromosome 4p13-q21. Genomics 2000;65:84-6. (Pubitemid 30249921)
55. Miyagawa T, Honda M, Kawashima M, et al. Polymorphism located in TCRA locus confers susceptibility to essential hypersomnia with HLA-DRB1*1501- DQB1*0602 haplotype. J Hum Genet 2010;55:63-5.
56. Padhan K, Varma R. Immunological synapse: a multi-protein signalling cellular apparatus for controlling gene expression. Immunology 2010;129:322-8.
57. Kornum BR, Kawashima M, Faraco J, et al. Common variants in P2RY11 are associated with narcolepsy. Nat Genet 2011;43:66-71.
58. Moore DJ, Chambers JK, Wahlin JP, et al. Expression pattern of human P2Y receptor subtypes: a quantitative reverse transcription-polymerase chain reaction study. Biochim Biophys Acta 2001;1521:107-19. (Pubitemid 33020772)
59. Rosenbaum AI, Maxfield FR. Niemann-Pick type C disease: molecular mechanisms and potential therapeutic approaches. J Neurochem 2011;116:789-95.
60. Vankova J, Stepanova I, Jech R, et al. Sleep disturbances and hypocretin deficiency in Niemann-Pick disease type C. Sleep 2003;26:427-30. (Pubitemid 39610661)
61. Vossler DG, Wyler AR, Wilkus RJ, et al. Cataplexy and monoamine oxidase deficiency in Norrie disease. Neurology 1996;46:1258-61. (Pubitemid 26159283)
62. Tobias ES, Tolmie JL, Stephenson JB. Cataplexy in the Prader-Willi syndrome. Arch Dis Child 2002;87:170.
63. Bruni O, Verrillo E, Novelli L, et al. Prader-Willi syndrome: sorting out the relationships between obesity, hypersomnia, and sleep apnea. Curr Opin Pulm Med 2010;16:568-73.
64. Mignot E, Lammers GJ, Ripley B, et al. The role of cerebrospinal fluid hypocretin measurement in the diagnosis of narcolepsy and other hypersomnias. Arch Neurol 2002;59:1553-62.
65. Melberg A, Hetta J, Dahl N, et al. Autosomal dominant cerebellar ataxia deafness and narcolepsy. J Neurol Sci 1995;134:119-29.
66. Melberg A, Dahl N, Hetta J, et al. Neuroimaging study in autosomal dominant cerebellar ataxia, deafness, and narcolepsy. Neurology 1999;53:2190-2.
67. Melberg A, Ripley B, Lin L, et al. Hypocretin deficiency in familial symptomatic narcolepsy. Ann Neurol 2001;49:136-7. (Pubitemid 32163021)
68. Stepien A, Staszewski J, Domzal TM, et al. Degenerative pontine lesions in patients with familial narcolepsy. Neurol Neurochir Pol 2010;44:21-7.
69. Arnulf I, Leu S, Oudiette D. Abnormal sleep and sleepiness in Parkinson's disease. Curr Opin Neurol 2008;21:472-7.
70. Lettre G, Rioux JD. Autoimmune diseases: insights from genome-wide association studies. Hum Mol Genet 2008;17:R116-21.
71. Kelley JM, Edberg JC, Kimberly RP. Pathways: strategies for susceptibility genes in SLE. Autoimmun Rev 2010;9:473-6.
72. Criswell LA. Gene discovery in rheumatoid arthritis highlights the CD40/NF-kappaB signaling pathway in disease pathogenesis. Immunol Rev 2010;233:55-61.