HLA dosage effect in narcolepsy with cataplexy

详细信息    查看全文

• 作者：Astrid van der Heide ; Willem Verduijn ; Geert W. Haasnoot…
• 关键词：Narcolepsy ; Autoimmune ; HLA ; Susceptibility
• 刊名：Immunogenetics
• 出版年：2015
• 出版时间：January 2015
• 年：2015
• 卷：67
• 期：1
• 页码：1-6
• 全文大小：152 KB
• 参考文献：1. American Academy of Sleep Medicine (2014) International classification of sleep disorders—third edition (ICSD-3). Darien, Illinois
  2. Dauvilliers Y, Arnulf I, Mignot E (2007) Narcolepsy with cataplexy. Lancet 369:499-11 CrossRef
  3. Eerligh P, van Lummel M, Zaldumbide A et al (2011) Functional consequences of HLA-DQ8 homozygosity versus heterozygosity for islet autoimmunity in type 1 diabetes. Genes Immun 12:415-27 CrossRef
  4. Ellis MC, Hetisimer AH, Ruddy DA et al (1997) HLA class II haplotype and sequence analysis support a role for DQ in narcolepsy. Immunogenetics 46:410-17 CrossRef
  5. Good IJ (1982) Standardized tail-area probabilities. J Stat Comp Simul 16:65-6 CrossRef
  6. Haldane JB (1956) The estimation and significance of the logarithm of a ratio of frequencies. Ann Hum Genet 20:309-11 CrossRef
  7. Han F, Lin L, Li J et al (2012) HLA-DQ association and allele competition in Chinese narcolepsy. Tissue Antigens 80:328-35 CrossRef
  8. Hong S-C, Lin L, Lo B et al (2007) DQB1*0301 and DQB1*0601 modulate narcolepsy susceptibility in Koreans. Hum Immunol 68:59-8 CrossRef
  9. Hor H, Kutalik Z, Dauvilliers Y et al (2010) Genome-wide association study identifies new HLA class II haplotypes strongly protective against narcolepsy. Nat Genet 1-
  10. Khalil I, Deschamps I, Lepage V et al (1992) Dose effect of cis- and trans-encoded HLA-DQ alpha beta heterodimers in IDDM susceptibility. Diabetes 41:378-84 CrossRef
  11. Koeleman BPC, Lie BA, Undlien DE et al (2004) Genotype effects and epistasis in type 1 diabetes and HLA-DQ trans dimer associations with disease. Genes Immun 5:381-88 CrossRef
  12. Kwok WW, Kovats S, Thurtle P, Nepom GT (1993) HLA-DQ allelic polymorphisms constrain patterns of class II heterodimer formation. J Immunol 150:2263-272
  13. Luca G, Haba-Rubio J, Dauvilliers Y et al (2013) Clinical, polysomnographic and genome-wide association analyses of narcolepsy with cataplexy: a European Narcolepsy Network study. J Sleep Res 22:482-95 CrossRef
  14. Lundin KE, Sollid LM, Qvigstad E et al (1990) T lymphocyte recognition of a celiac disease-associated cis- or trans-encoded HLA-DQ alpha/beta-heterodimer. J Immunol 145:136-39
  15. Matsuki K, Grumet FC, Lin X et al (1992) DQ (rather than DR) gene marks susceptibility to narcolepsy. Lancet 339:1052-052 CrossRef
  16. Mignot E, Lin X, Arrigoni J et al (1994) DQB1*0602 and DQA1*0102 (DQ1) are better markers than DR2 for narcolepsy in Caucasian and black Americans. Sleep 17:S60–S67
  17. Mignot E, Hayduk R, Black J et al (1997a) HLA DQB1*0602 is associated with cataplexy in 509 narcoleptic patients. Sleep 20:1012-020
  18. Mignot E, Kimura A, Lattermann A et al (1997b) Extensive HLA class II studies in 58 non-DRB1*15 (DR2) narcoleptic patients with cataplexy. Tissue Antigens 49:329-41 CrossRef
  19. Mignot E, Lin L, Rogers W et al (2001) Complex HLA-DR and -DQ interactions confer risk of narcolepsy-cataplexy in three ethnic groups. Am J Hum Genet 68:686-99 CrossRef
  20. Nishino S, Ripley B, Overeem S et al (2000) Hypocretin (orexin) deficiency in human narcolepsy. Lancet 355:39-0 CrossRef
  21. Pelin Z, Guilleminault C, Risch N et al (1998) HLA-DQB1*0602 homozygosity increases relat
• 作者单位：Astrid van der Heide (1)
  Willem Verduijn (2)
  Geert W. Haasnoot (2)
  Jos J. M. Drabbels (2)
  Gert J. Lammers (1) (3)
  Frans H. J. Claas (2)
  
  1. Department of Neurology and Clinical Neurophysiology, Leiden University Medical Center, PO Box 9600, 2300, Leiden, The Netherlands
  2. Department of Immunohaematology and Blood Transfusion, Leiden University Medical Center, Leiden, The Netherlands
  3. SleepWake Center SEIN, Heemstede, The Netherlands
  
• 刊物类别：Biomedical and Life Sciences
• 刊物主题：Biomedicine
  Immunology
  Allergology
  Cell Biology
  
• 出版者：Springer Berlin / Heidelberg
• ISSN：1432-1211

文摘

Narcolepsy with cataplexy is a sleep disorder caused by the loss of hypocretin-producing neurons in the hypothalamus. It is tightly associated with a specific human leukocyte antigen (HLA)-allele: HLA-DQB1*06:02. Based on this, an autoimmune process has been hypothesized. A functional HLA-DQ molecule consists of a DQα and a DQβ chain. HLA-DQB1*06:02 (DQβ) has a strong preference for binding to HLA-DQA1*01:02 (DQα), and together they form the functional DQ0602 dimer. A dosage effect would be expected if the HLA-DQ0602 dimer itself is directly involved in the aetiology. An increased expression of the HLA-DQ0602 dimer is expected in individuals homozygous for HLA-DQB1*06:02-DQA1*01:02, but is also hypothesized in individuals heterozygous for HLA-DQB1*06:02 and homozygous for HLA-DQA1*01:02. To study the impact of the expression of the HLA-DQ0602 dimer on narcolepsy susceptibility, 248 Dutch narcolepsy patients and 1272 Dutch control subjects, all of them positive for DQB1*06:02 (heterozygous and homozygous), were HLA-genotyped with attention not only to DQB1 but also to DQA1*01:02. DQB1*06:02-DQA1*01:02 homozygosity was significantly more often seen in patients compared to controls (O.R. 2.29) confirming previous observations. More importantly, a significantly higher prevalence of homozygosity for DQA1*01:02 was found in HLA-DQB1*06:02 heterozygous patients compared to controls (O.R. 2.37, p--.001). The latter finding clearly supports a direct role of the HLA-DQ molecule in the development of disease.