PMID- 17207713
OWN - NLM
STAT- MEDLINE
DCOM- 20071010
LR  - 20111117
IS  - 0198-8859 (Print)
IS  - 0198-8859 (Linking)
VI  - 68
IP  - 1
DP  - 2007 Jan
TI  - DQB1*0301 and DQB1*0601 modulate narcolepsy susceptibility in Koreans.
PG  - 59-68
AB  - The association of narcolepsy with HLA-DQB1*0602 is established in Japanese, 
      African-Americans, European, and North American Caucasians. We examined DRB1, 
      DRB3, DRB4, DRB5, DQA1, and DQB1 in 163 patients with centrally mediated daytime 
      sleepiness (100 with narcolepsy) and 211 Korean controls. In this population, the 
      DQB1*0602 association was always evident in the context of the 
      DRB1*1501-DQA1*0102-DQB1*0602 haplotype. The DQB1*0602 association was highest in 
      cases with hypocretin deficiency (100% vs 13% in controls), most of which had 
      narcolepsy-cataplexy (81%). A weaker DQB1*0602 (45%) association was present in 
      cases without cataplexy. No human leukocyte antigen (HLA) association was present 
      in idiopathic hypersomnia or in cases with normal cerebrospinal fluid (CSF) 
      hypocretin-1. As in other populations, DQB1*0602 homozygosity increased risk in 
      cases with cataplexy and/or hypocretin deficiency (odds ratio = 2.0 vs 
      heterozygotes). Non-DQB1*0602 allelic effects were also observed but could not be 
      interpreted in the context of DQB1*0602 overabundance and linkage disequilibrium. 
      We therefore next analyzed compound heterozygote effects in 77 subjects with 
      either hypocretin deficiency or cataplexy and one copy of 
      DRB1*1501-DQA1*0102-DQB1*0602, a sample constructed to maximize etiologic 
      homogeneity. In this analysis, we found additional predisposing effects of 
      DQB1*0301 and protective effects for DQA1*0103-DQB1*0601. Unexpectedly, the 
      predisposing effects of DQB1*0301 were present in the context of various 
      DQA1-bearing haplotypes. A predisposing effect of DQA1*0303 was also suggested. 
      These results indicate a remarkable consistency in the complex HLA association 
      present in narcolepsy across multiple ethnic groups.
FAU - Hong, Seung-Chul
AU  - Hong SC
AD  - Department of Neuropsychiatry, St. Vincent's Hospital, The Catholic University of 
      Korea, Suwon, Korea.
FAU - Lin, Ling
AU  - Lin L
FAU - Lo, Betty
AU  - Lo B
FAU - Jeong, Jong-Hyun
AU  - Jeong JH
FAU - Shin, Yoon-Kyung
AU  - Shin YK
FAU - Kim, Su-Yeon
AU  - Kim SY
FAU - Kweon, Yongsil
AU  - Kweon Y
FAU - Zhang, Jing
AU  - Zhang J
FAU - Einen, Mali
AU  - Einen M
FAU - Smith, Anajane
AU  - Smith A
FAU - Hansen, John
AU  - Hansen J
FAU - Grumet, F Carl
AU  - Grumet FC
FAU - Mignot, Emmanuel
AU  - Mignot E
LA  - eng
GR  - AI49213/AI/NIAID NIH HHS/United States
GR  - NS23724/NS/NINDS NIH HHS/United States
GR  - NS33797/NS/NINDS NIH HHS/United States
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, Non-U.S. Gov't
DEP - 20061030
PL  - United States
TA  - Hum Immunol
JT  - Human immunology
JID - 8010936
RN  - 0 (HLA-DQ Antigens)
RN  - 0 (HLA-DQ alpha-Chains)
RN  - 0 (HLA-DQ beta-Chains)
RN  - 0 (HLA-DQA1 antigen)
RN  - 0 (HLA-DQB1 antigen)
RN  - 0 (Membrane Glycoproteins)
SB  - IM
MH  - *Genetic Predisposition to Disease
MH  - HLA-DQ Antigens/genetics/*physiology
MH  - HLA-DQ alpha-Chains
MH  - HLA-DQ beta-Chains
MH  - Humans
MH  - Korea
MH  - Membrane Glycoproteins/genetics/*physiology
MH  - Narcolepsy/*genetics/*metabolism
EDAT- 2007/01/09 09:00
MHDA- 2007/10/11 09:00
CRDT- 2007/01/09 09:00
PHST- 2006/07/20 00:00 [received]
PHST- 2006/09/15 00:00 [revised]
PHST- 2006/10/02 00:00 [accepted]
PHST- 2007/01/09 09:00 [pubmed]
PHST- 2007/10/11 09:00 [medline]
PHST- 2007/01/09 09:00 [entrez]
AID - S0198-8859(06)00549-0 [pii]
AID - 10.1016/j.humimm.2006.10.006 [doi]
PST - ppublish
SO  - Hum Immunol. 2007 Jan;68(1):59-68. doi: 10.1016/j.humimm.2006.10.006. Epub 2006 
      Oct 30.