PMID- 10777671
OWN - NLM
STAT- MEDLINE
DCOM- 20000605
LR  - 20111117
IS  - 0888-7543 (Print)
IS  - 0888-7543 (Linking)
VI  - 65
IP  - 1
DP  - 2000 Apr 1
TI  - Linkage of human narcolepsy with HLA association to chromosome 4p13-q21.
PG  - 84-6
AB  - Although narcolepsy is highly associated with human leukocyte antigen (HLA) 
      DQ6/DQB1*0602 and/or DR2/DRB1*1501, most individuals with the HLA haplotype are 
      free of narcolepsy. This indicates that HLA alone makes a relatively small 
      contribution to the development of narcolepsy and that a non-HLA gene(s) can 
      contribute to the genetic predisposition even in narcoleptic cases with HLA 
      association. We conducted a genome-wide linkage search for narcolepsy in eight 
      Japanese families with 21 DR2-positive patients (14 narcoleptic cases with 
      cataplexy and 7 cases with an incomplete form of narcolepsy). A lod score of 3.09 
      suggested linkage to chromosome 4p13-q21. A lod score of 1.53 was obtained at the 
      HLA-DRB1 locus, though this lod score may be biased since all the affected 
      patients and many of the family members were DR2-positive. No other loci 
      including hypocretin, hypocretin receptor 1, and hypocretin receptor 2 had lod 
      scores greater than 1.0. The present study suggests that chromosome 4p13-q21 
      contains a second locus for HLA-associated human narcolepsy.
CI  - Copyright 2000 Academic Press.
FAU - Nakayama, J
AU  - Nakayama J
AD  - Department of Medical Genetics, Institute of Basic Medical Sciences, University 
      of Tsukuba, Tsukuba, 305-8575, Japan.
FAU - Miura, M
AU  - Miura M
FAU - Honda, M
AU  - Honda M
FAU - Miki, T
AU  - Miki T
FAU - Honda, Y
AU  - Honda Y
FAU - Arinami, T
AU  - Arinami T
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Genomics
JT  - Genomics
JID - 8800135
RN  - 0 (HLA Antigens)
RN  - 0 (HLA-DR Antigens)
RN  - 0 (HLA-DR2 Antigen)
RN  - 0 (HLA-DRB1 Chains)
SB  - IM
MH  - Chromosome Mapping
MH  - Chromosomes, Human, Pair 4/*genetics
MH  - Family Health
MH  - Female
MH  - Genetic Linkage
MH  - HLA Antigens/*genetics
MH  - HLA-DR Antigens/genetics
MH  - HLA-DR2 Antigen/genetics
MH  - HLA-DRB1 Chains
MH  - Humans
MH  - Lod Score
MH  - Male
MH  - Microsatellite Repeats
MH  - Narcolepsy/*genetics
MH  - Pedigree
EDAT- 2000/04/25 09:00
MHDA- 2000/06/10 09:00
CRDT- 2000/04/25 09:00
PHST- 2000/04/25 09:00 [pubmed]
PHST- 2000/06/10 09:00 [medline]
PHST- 2000/04/25 09:00 [entrez]
AID - S0888-7543(00)96143-3 [pii]
AID - 10.1006/geno.2000.6143 [doi]
PST - ppublish
SO  - Genomics. 2000 Apr 1;65(1):84-6. doi: 10.1006/geno.2000.6143.