Genome Wide Analysis of Narcolepsy in China Implicates Novel Immune Loci and Reveals Changes in Association Prior to Versus After the 2009 H1N1 Influenza Pandemic

PLoS Genetics

Volumn 9, Issue 10, 2013, Pages

  Han, Fang ^a   Faraco, Juliette ^b   Dong, Xiao Song ^a   Ollila, Hanna M ^b   Lin, Ling ^b   Li, Jing ^a   An, Pei ^a   Wang, Shan ^a   Jiang, Ke Wei ^a   Gao, Zhan Cheng ^a   Zhao, Long ^a   Yan, Han ^a   Liu, Ya Nan ^a   Li, Qing Hua ^a   Zhang, Xiao Zhe ^a   Hu, Yan ^a   Wang, Jing Yu ^c   Lu, Yun Hui ^d   Lu, Chang Jun ^c   Zhou, Wei ^a   Hallmayer, Joachim ^b   Huang, Yu Shu ^e   Strohl, Kingman P ^f   Pollmächer, Thomas ^g   Mignot, Emmanuel ^b   more..

^a PEKING UNIVERSITY PEOPLE S HOSPITAL   (China)

^b STANFORD UNIVERSITY   (United States)

^c Binzhou Medical University   (China)

^d Yun Nan Province Hospital   (China)

^e NATIONAL TAIWAN UNIVERSITY   (Taiwan)

^f CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^g KLINIKUM INGOLSTADT   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

HLA DQ ANTIGEN; HLA DQB1 ANTIGEN; ALPHA BETA INTERFERON RECEPTOR; DNA BINDING PROTEIN; HLA-DQBETA ANTIGEN; IFNAR1 PROTEIN, HUMAN; IL10RB PROTEIN, HUMAN; INTERLEUKIN 10 RECEPTOR BETA; LYMPHOCYTE ANTIGEN RECEPTOR; NEUROPEPTIDE; OREXINS; SIGNAL PEPTIDE; TRANSCRIPTION FACTOR; ZNF365 PROTEIN, HUMAN;

2009 H1N1 INFLUENZA; ANTIGEN DETECTION; ANTIGEN PRESENTATION; ARTICLE; CHILD; CHINA; CHINESE; CONTROLLED STUDY; DISEASE ASSOCIATION; FEMALE; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC VARIABILITY; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; NARCOLEPSY; ONSET AGE; PLEIOTROPY; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; COMPLICATION; GENETICS; INFLUENZA; INFLUENZA VIRUS A H1N1; NERVE CELL; PATHOGENICITY; PATHOLOGY;

AGE OF ONSET; CHINA; DNA-BINDING PROTEINS; GENOME-WIDE ASSOCIATION STUDY; HLA-DQ ANTIGENS; HLA-DQ BETA-CHAINS; HUMANS; INFLUENZA A VIRUS, H1N1 SUBTYPE; INFLUENZA, HUMAN; INTERLEUKIN-10 RECEPTOR BETA SUBUNIT; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; NARCOLEPSY; NEURONS; NEUROPEPTIDES; RECEPTOR, INTERFERON ALPHA-BETA; RECEPTORS, ANTIGEN, T-CELL, ALPHA-BETA; TRANSCRIPTION FACTORS;

EID: 84887299056     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1003880     Document Type: Article

References (43)

1. Mignot E, Lin L, Rogers W, Honda Y, Qiu X, et al. (2001) Complex HLA-DR and-DQ interactions confer risk of narcolepsy-cataplexy in three ethnic groups. American journal of human genetics 68: 686-699.
2. Hong SC, Lin L, Lo B, Jeong JH, Shin YK, et al. (2007) DQB1*0301 and DQB1*0601 modulate narcolepsy susceptibility in Koreans. Human immunology 68: 59-68.
3. Han F, Lin L, Li J, Dong SX, An P, et al. (2012) HLA-DQ association and allele competition in Chinese narcolepsy. Tissue Antigens 80: 328-335.
4. Hor H, Kutalik Z, Dauvilliers Y, Valsesia A, Lammers GJ, et al. (2010) Genome-wide association study identifies new HLA class II haplotypes strongly protective against narcolepsy. Nature genetics 42: 786-789.
5. Pelin Z, Guilleminault C, Risch N, Grumet FC, Mignot E, (1998) HLA-DQB1*0602 homozygosity increases relative risk for narcolepsy but not disease severity in two ethnic groups. US Modafinil in Narcolepsy Multicenter Study Group. Tissue Antigens 51: 96-100.
6. Hallmayer J, Faraco J, Lin L, Hesselson S, Winkelmann J, et al. (2009) Narcolepsy is strongly associated with the T-cell receptor alpha locus. Nat Genet 41: 708-711.
7. Kornum BR, Kawashima M, Faraco J, Lin L, Rico TJ, et al. (2011) Common variants in P2RY11 are associated with narcolepsy. Nat Genet 43: 66-71.
8. Faraco J, Lin L, Kornum BR, Kenny EE, Trynka G, et al. (2013) ImmunoChip study implicates antigen presentation to T cells in narcolepsy. PLoS Genet 9: e1003270.
9. Han F, Lin L, Warby SC, Faraco J, Li J, et al. (2011) Narcolepsy onset is seasonal and increased following the 2009 H1N1 pandemic in China. Ann Neurol 70: 410-417.
10. Aran A, Lin L, Nevsimalova S, Plazzi G, Hong SC, et al. (2009) Elevated anti-streptococcal antibodies in patients with recent narcolepsy onset. Sleep 32: 979-983.
11. Longstreth WT Jr, Ton TG, Koepsell TD, (2009) Narcolepsy and streptococcal infections. Sleep 32: 1548.
12. Dauvilliers Y, Montplaisir J, Cochen V, Desautels A, Einen M, et al. (2010) Post-H1N1 narcolepsy-cataplexy. Sleep 33: 1428-1430.
13. Meeyai A, Cooper BS, Coker R, (2013) Analysis of 2009 pandemic influenza A/H1N1 outcomes in 19 European countries: association with completeness of national strategic plans. BMJ open 3: e002253.
14. Nohynek H, Jokinen J, Partinen M, Vaarala O, Kirjavainen T, et al. (2012) AS03 adjuvanted AH1N1 vaccine associated with an abrupt increase in the incidence of childhood narcolepsy in Finland. PLoS One 7: e33536.
15. Miller E, Andrews N, Stellitano L, Stowe J, Winstone AM, et al. (2013) Risk of narcolepsy in children and young people receiving AS03 adjuvanted pandemic A/H1N1 2009 influenza vaccine: retrospective analysis. BMJ 346: f794.
16. Szakacs A, Darin N, Hallbook T, (2013) Increased childhood incidence of narcolepsy in western Sweden after H1N1 influenza vaccination. Neurology 80: 1315-1321.
17. Wijnans L, Lecomte C, de Vries C, Weibel D, Sammon C, et al. (2013) The incidence of narcolepsy in Europe: before, during, and after the influenza A(H1N1)pdm09 pandemic and vaccination campaigns. Vaccine 31: 1246-1254.
18. Han F, Lin L, Li J, Dong XS, Mignot E, (2012) Decreased incidence of childhood narcolepsy 2 years after the 2009 H1N1 winter flu pandemic. Ann Neurol E-pub ahead of print. doi: 10.1002/ana.23799.
19. Partinen M, Saarenpaa-Heikkila O, Ilveskoski I, Hublin C, Linna M, et al. (2012) Increased Incidence and Clinical Picture of Childhood Narcolepsy following the 2009 H1N1 Pandemic Vaccination Campaign in Finland. PLoS One 7: e33723.
20. Lan L, Lu W, Li S, Yin J, Xie J, et al. (2011) Evolutionary characteristics of swine-origin H1N1 influenza virus that infected humans from sporadic to pandemic. Journal of Public Health and Epidemiology 3: 254-270.
21. Han F, Lin L, Li J, Aran A, Dong SX, et al. (2011) Presentations of primary hypersomnia in Chinese children. Sleep 34: 627-632.
22. Han F, Lin L, Li J, Aran A, Dong SX, et al. (2012) TCRA, P2RY11, and CPT1B/CHKB associations in Chinese narcolepsy. Sleep Med 13: 269-272.
23. Winkelmann J, Lin L, Schormair B, Kornum BR, Faraco J, et al. (2012) Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy. Hum Mol Genet 21: 2205-2210.
24. Hirota T, Takahashi A, Kubo M, Tsunoda T, Tomita K, et al. (2012) Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population. Nat Genet 44: 1222-1226.
25. Waterman M, Xu W, Stempak JM, Milgrom R, Bernstein CN, et al. (2011) Distinct and overlapping genetic loci in Crohn's disease and ulcerative colitis: correlations with pathogenesis. Inflamm Bowel Dis 17: 1936-1942.
26. Huertas-Vazquez A, Nelson CP, Guo X, Reinier K, Uy-Evanado A, et al. (2013) Novel Loci associated with increased risk of sudden cardiac death in the context of coronary artery disease. PLoS One 8: e59905.
27. Couch FJ, Gaudet MM, Antoniou AC, Ramus SJ, Kuchenbaecker KB, et al. (2012) Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. Cancer Epidemiol Biomarkers Prev 21: 645-657.
28. Haritunians T, Jones MR, McGovern DP, Shih DQ, Barrett RJ, et al. (2011) Variants in ZNF365 isoform D are associated with Crohn's disease. Gut 60: 1060-1067.
29. Begue B, Verdier J, Rieux-Laucat F, Goulet O, Morali A, et al. (2011) Defective IL10 signaling defining a subgroup of patients with inflammatory bowel disease. Am J Gastroenterol 106: 1544-1555.
30. Mao H, Yang W, Lee PP, Ho MH, Yang J, et al. (2012) Exome sequencing identifies novel compound heterozygous mutations of IL-10 receptor 1 in neonatal-onset Crohn's disease. Genes Immun 13: 437-442.
31. Kalinke U, Prinz M, (2012) Endogenous, or therapeutically induced, type I interferon responses differentially modulate Th1/Th17-mediated autoimmunity in the CNS. Immunol Cell Biol 90: 505-509.
32. Luca G, Haba-Rubio J, Dauvilliers Y, Lammers GJ, Overeem S, et al. (2013) Clinical, polysomnographic and genome-wide association analyses of narcolepsy with cataplexy: a European Narcolepsy Network study. J Sleep Res 22: 482-495.
33. Pelin Z, Bozluolcay M, Kaynak D, Kaynak H, (2002) Childhood onset of narcolepsy-cataplexy syndrome in Turkey: clinical and genetic study. Turk J Pediatr 44: 321-325.
34. Fraser C, Donnelly CA, Cauchemez S, Hanage WP, Van Kerkhove MD, et al. (2009) Pandemic potential of a strain of influenza A (H1N1): early findings. Science 324: 1557-1561.
35. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, et al. (2007) PLINK: a tool set for whole-genome association and population-based linkage analyses. American journal of human genetics 81: 559-575.
36. Kang HM, Sul JH, Service SK, Zaitlen NA, Kong SY, et al. (2010) Variance component model to account for sample structure in genome-wide association studies. Nature genetics 42: 348-354.
37. Aulchenko YS, Ripke S, Isaacs A, van Duijn CM, (2007) GenABEL: an R library for genome-wide association analysis. Bioinformatics 23: 1294-1296.
38. Team RDC (2008) R: A language and environment for statistical computing. Computing RFfS, editor. Vienna, Austria.
39. Browning SR, Browning BL, (2007) Rapid and accurate haplotype phasing and missing-data inference for whole-genome association studies by use of localized haplotype clustering. American journal of human genetics 81: 1084-1097.
40. Pruim RJ, Welch RP, Sanna S, Teslovich TM, Chines PS, et al. (2010) LocusZoom: regional visualization of genome-wide association scan results. Bioinformatics 26: 2336-2337.
41. Zheng X, Shen J, Cox C, Wakefield JC, Ehm MG, et al. (2013) HIBAG-HLA genotype imputation with attribute bagging. Pharmacogenomics J E-pub ahead of print. doi: 10.1038/tpj.2013.18.
42. Hei AL, Li W, Deng ZH, He J, Jin WM, et al. (2009) Analysis of high-resolution HLA-A,-B,-Cw,-DRB1, and-DQB1 alleles and haplotypes in 718 Chinese marrow donors based on donor-recipient confirmatory typings. International journal of immunogenetics 36: 275-282.
43. Hollenbach JA, Mack SJ, Thomson G, Gourraud PA, (2012) Analytical methods for disease association studies with immunogenetic data. Methods in molecular biology 882: 245-266.