DQB1 06:02 allele-specific expression varies by allelic dosage, not narcolepsy status

Human Immunology

Volumn 73, Issue 4, 2012, Pages 405-410

  Weiner Lachmi, Karin ^a   Lin, Ling ^a   Kornum, Birgitte Rahbek ^a   Rico, Tom ^a   Lo, Betty ^a   Aran, Adi ^a   Mignot, Emmanuel ^a  

^a STANFORD UNIVERSITY   (United States)

Author keywords

DQB1*06:02; Gene expression; Human leukocyte antigen; Narcolepsy

Indexed keywords

HETERODIMER; HLA DQB1 ANTIGEN; MESSENGER RNA; HLA DQ ANTIGEN; HLA-DQB1 ANTIGEN;

ADULT; ANTIGEN EXPRESSION; ARTICLE; CATALEPSY; CONTROLLED STUDY; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; HETEROZYGOTE; HLA SYSTEM; HOMOZYGOTE; HUMAN; LEUKOCYTE; MAJOR CLINICAL STUDY; MALE; NARCOLEPSY; PERIPHERAL BLOOD MONONUCLEAR CELL; PRIORITY JOURNAL; PROTEIN EXPRESSION; ALLELE; B LYMPHOCYTE; CASE CONTROL STUDY; GENE DOSAGE; GENE EXPRESSION; GENE EXPRESSION PROFILING; GENETICS; GENOTYPE; IMMUNOLOGY; METABOLISM;

ADULT; ALLELES; B-LYMPHOCYTES; CASE-CONTROL STUDIES; FEMALE; GENE DOSAGE; GENE EXPRESSION; GENE EXPRESSION PROFILING; GENOTYPE; HLA-DQ BETA-CHAINS; HUMANS; MALE; NARCOLEPSY;

EID: 84859110653     PISSN: 01988859     EISSN: 18791166     Source Type: Journal    
DOI: 10.1016/j.humimm.2012.01.004     Document Type: Article

References (36)

1. Doherty D.G., Penzotti J.E., Koelle D.M., Kwok W.W., Lybrand T.P., Masewicz S., et al. Structural basis of specificity and degeneracy of T cell recognition: pluriallelic restriction of T cell responses to a peptide antigen involves both specific and promiscuous interactions between the T cell receptor, peptide, and HLA-DR. J Immunol 1998, 161:3527-3535.
2. Gebe J.A., Novak E.J., Kwok W.W., Farr A.G., Nepom G.T., Buckner J.H. T cell selection and differential activation on structurally related HLA-DR4 ligands. J Immunol 2001, 167:3250-3256.
3. Nepom G.T., Lippolis J.D., White F.M., Masewicz S., Marto J.A., et al. Identification and modulation of a naturally processed T cell epitope from the diabetes-associated autoantigen human glutamic acid decarboxylase 65 (hGAD65). Proc Natl Acad Sci U S A 2001, 98:1763-1768.
4. Chabas D., Taheri S., Renier C., Mignot E. The genetics of narcolepsy. Annu Rev Genomics Hum Genet 2003, 4:459-483.
5. Hillert J., Olerup O. HLA and MS. Neurology 1993, 43:2426-2427.
6. Hong S.C., Hayduk R., Lim J., Mignot E. Clinical and polysomnographic features in DQB1*0602 positive and negative narcolepsy patients: results from the modafinil clinical trial. Sleep Med 2000, 1:33-39.
7. Oksenberg J.R., Barcellos L.F., Cree B.A., Baranzini S.E., Bugawan T.L., Khan O., et al. Mapping multiple sclerosis susceptibility to the HLA-DR locus in African Americans. Am J Hum Genet 2004, 74:160-167.
8. Arnett F.C., Reveille J.D. Genetics of systemic lupus erythematosus. Rheum Dis Clin North Am 1992, 18:865-892.
9. Arnett F.C., Reveille J.D., Moutsopoulos H.M., Georgescu L., Elkon K.B. Ribosomal P autoantibodies in systemic lupus erythematosus. Frequencies in different ethnic groups and clinical and immunogenetic associations. Arthritis Rheum 1996, 39:1833-1839.
10. Cortes L.M., Baltazar L.M., Lopez-Cardona M.G., Olivares N., Ramos C., Salazar M., et al. HLA class II haplotypes in Mexican systemic lupus erythematosus patients. Hum Immunol 2004, 65:1469-1476.
11. Voorter C.E., Drent M., van den Berg-Loonen E.M. Severe pulmonary sarcoidosis is strongly associated with the haplotype HLA-DQB1*0602-DRB1*150101. Hum Immunol 2005, 66:826-835.
12. Spurkland A., Saarinen S., Boberg K.M., Mitchell S., Broome U., Caballeria L., et al. HLA class II haplotypes in primary sclerosing cholangitis patients from five European populations. Tissue Antigens 1999, 53:459-469.
13. Pugliese A., Gianani R., Moromisato R., Awdeh Z.L., Alper C.A., Erlich H.A., et al. HLA-DQB1*0602 is associated with dominant protection from diabetes even among islet cell antibody-positive first-degree relatives of patients with IDDM. Diabetes 1995, 44:608-613.
14. Bondinas G.P., Moustakas A.K., Papadopoulos G.K. The spectrum of HLA-DQ and HLA-DR alleles, 2006: a listing correlating sequence and structure with function. Immunogenetics 2007, 59:539-553.
15. Singh M., Kothur K. Pulmonary sarcoidosis masquerading as tuberculosis. Indian Pediatr 2007, 44:615-617.
16. Singh U.B., Arora J., Suresh N., Pant H., Rana T., Sola C., et al. Genetic biodiversity of Mycobacterium tuberculosis isolates from patients with pulmonary tuberculosis in India. Infect Genet Evol 2007, 7:441-448.
17. Matsuki K., Grumet F.C., Lin X., Gelb M., Guilleminault C., Dement W. DQ (rather than DR) gene marks susceptibility to narcolepsy. Lancet 1992, 339:1052.
18. Mignot E., Lin L., Rogers W., Honda Y., Qiu X., Lin X., et al. Complex HLA-DR and -DQ interactions confer risk of narcolepsy-cataplexy in three ethnic groups. Am J Hum Genet 2001, 68:686-699.
19. Peyron C., Faraco J., Rogers W., Ripley B., Overeem S., Charnay Y., 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, 6:991-997.
20. Thannickal T.C., Moore R.Y., Nienhuis R., Ramanathan L., Gulyani S., Aldrich M., et al. Reduced number of hypocretin neurons in human narcolepsy. Neuron 2000, 27:469-474.
21. Dauvilliers Y, Montplaisir J, Cochen V, Desautels A, Einen M, Lin L. Post-H1N1 narcolepsy-cataplexy. Sleep;33:1428-30.
22. Mignot E, Dauvilliers Y, Montplaisir J. Comment on the Letter to the Editor by Dr. Marcus on the association between narcolepsy and H1N1 exposure. Sleep;34:689-90.
23. 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;19:80-6.
24. Aran A., Lin L., Nevsimalova S., Plazzi G., Hong S.C., Weiner K., et al. Elevated anti-streptococcal antibodies in patients with recent narcolepsy onset. Sleep 2009, 32:979-983.
25. Hallmayer J., Faraco J., Lin L., Hesselson S., Winkelmann J., Kawashima M., et al. Narcolepsy is strongly associated with the T-cell receptor alpha locus. Nat Genet 2009, 41:708-711.
26. Pelin Z., Guilleminault C., Risch N., Grumet F.C., Mignot E. 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 1998, 51:96-100.
27. Hong S.C., Lin L., Lo B., Jeong J.H., Shin Y.K., Kim S.Y., et al. DQB1*0301 and DQB1*0601 modulate narcolepsy susceptibility in Koreans. Hum Immunol 2007, 68:59-68.
28. Hor H, Kutalik Z, Dauvilliers Y, Valsesia A, Lammers GJ, Donjacour C. Genome-wide association study identifies new HLA class II haplotypes strongly protective against narcolepsy. Nat Genet;42:786-9.
29. Hamza TH, Zabetian CP, Tenesa A, Laederach A, Montimurro J, Yearout D, et al. Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease. Nat Genet;42:781-5.
30. Nepom G.T., Chung J., West K.A. Differential expression of HLA-DQB1 alleles in a heterozygous cell line. Immunogenetics 1995, 42:143-148.
31. Beaty J.S., West K.A., Nepom G.T. Functional effects of a natural polymorphism in the transcriptional regulatory sequence of HLA-DQB1. Mol Cell Biol 1995, 15:4771-4782.
32. Ferstl B., Zacher T., Lauer B., Blagitko-Dorfs N., Carl A., Wassmuth R. Allele-specific quantification of HLA-DQB1 gene expression by real-time reverse transcriptase-polymerase chain reaction. Genes Immun 2004, 5:405-416.
33. Ge X., Piganelli J.D., Tse H.M., Bertera S., Mathews C.E., Trucco M., et al. Modulatory role of DR4- to DQ8-restricted CD4 T-cell responses and type 1 diabetes susceptibility. Diabetes 2006, 55:3455-3462.
34. Smeesters PR, Dreze PA, Perez-Morga D, Biarent D, Van Melderen L, Vergison A. Group A streptococcus virulence and host factors in two toddlers with rheumatic fever following toxic shock syndrome. Int J Infect Dis;14:e403-9.
35. Llewelyn M. Human leukocyte antigen class II haplotypes that protect against or predispose to streptococcal toxic shock. Clin Infect Dis 2005, 41(suppl 7):S445-S448.
36. Fraser J.D., Proft T. The bacterial superantigen and superantigen-like proteins. Immunol Rev 2008, 225:226-243.