PMID- 22326585
OWN - NLM
STAT- MEDLINE
DCOM- 20120727
LR  - 20240321
IS  - 1879-1166 (Electronic)
IS  - 0198-8859 (Print)
IS  - 0198-8859 (Linking)
VI  - 73
IP  - 4
DP  - 2012 Apr
TI  - DQB1*06:02 allele-specific expression varies by allelic dosage, not narcolepsy 
      status.
PG  - 405-10
LID - 10.1016/j.humimm.2012.01.004 [doi]
AB  - The association of narcolepsy-cataplexy, a sleep disorder caused by the loss of 
      hypocretin/orexin neurons in the hypothalamus, with DQA1*01:02-DQB1*06:02 is one 
      of the tightest known single-allele human leukocyte antigen (HLA) associations. 
      In this study, we explored genome-wide expression in peripheral white blood cells 
      of 50 narcolepsy versus 47 controls (half of whom were DQB1*06:02 positive) and 
      observed the largest differences between the groups in the signal from HLA 
      probes. Further studies of HLA-DQ expression (mRNA and protein in a subset) in 
      125 controls and 147 narcolepsy cases did not reveal any difference, a result we 
      explain by the lack of proper control of allelic diversity in Affymetrix HLA 
      probes. Rather, a clear effect of DQB1*06:02 allelic dosage on DQB1*06:02 mRNA 
      levels (1.65-fold) and protein (1.59-fold) could be demonstrated independent of 
      disease status. These results indicate that allelic dosage is transmitted into 
      changes in heterodimer availability, a phenomenon that may explain the increased 
      risk for narcolepsy in DQB1*06:02 homozygotes versus heterozygotes.
CI  - Copyright (c) 2012 American Society for Histocompatibility and Immunogenetics. All 
      rights reserved.
FAU - Weiner Lachmi, Karin
AU  - Weiner Lachmi K
AD  - Center for Sleep Sciences, Stanford University, Palo Alto, CA 94304-5592, USA.
FAU - Lin, Ling
AU  - Lin L
FAU - Kornum, Birgitte Rahbek
AU  - Kornum BR
FAU - Rico, Tom
AU  - Rico T
FAU - Lo, Betty
AU  - Lo B
FAU - Aran, Adi
AU  - Aran A
FAU - Mignot, Emmanuel
AU  - Mignot E
LA  - eng
GR  - T32 AI007290/AI/NIAID NIH HHS/United States
GR  - R01 AI007290/AI/NIAID NIH HHS/United States
GR  - AI07290/AI/NIAID NIH HHS/United States
GR  - P50 NS023724/NS/NINDS NIH HHS/United States
GR  - P50-NS23724/NS/NINDS NIH HHS/United States
GR  - 5 T32 AI07290/AI/NIAID NIH HHS/United States
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
DEP - 20120131
PL  - United States
TA  - Hum Immunol
JT  - Human immunology
JID - 8010936
RN  - 0 (HLA-DQ beta-Chains)
RN  - 0 (HLA-DQB1 antigen)
SB  - IM
MH  - Adult
MH  - *Alleles
MH  - B-Lymphocytes/immunology/metabolism
MH  - Case-Control Studies
MH  - Female
MH  - *Gene Dosage
MH  - Gene Expression
MH  - Gene Expression Profiling
MH  - Genotype
MH  - HLA-DQ beta-Chains/*genetics/immunology/metabolism
MH  - Humans
MH  - Male
MH  - Narcolepsy/*genetics/immunology/metabolism
PMC - PMC3501142
MID - NIHMS361966
EDAT- 2012/02/14 06:00
MHDA- 2012/07/28 06:00
PMCR- 2013/04/01
CRDT- 2012/02/14 06:00
PHST- 2011/07/19 00:00 [received]
PHST- 2012/01/06 00:00 [revised]
PHST- 2012/01/24 00:00 [accepted]
PHST- 2012/02/14 06:00 [entrez]
PHST- 2012/02/14 06:00 [pubmed]
PHST- 2012/07/28 06:00 [medline]
PHST- 2013/04/01 00:00 [pmc-release]
AID - S0198-8859(12)00014-6 [pii]
AID - 10.1016/j.humimm.2012.01.004 [doi]
PST - ppublish
SO  - Hum Immunol. 2012 Apr;73(4):405-10. doi: 10.1016/j.humimm.2012.01.004. Epub 2012 
      Jan 31.