Narcolepsy
|
0.800 |
SusceptibilityMutation
|
disease |
ORPHANET |
Association of narcolepsy-cataplexy with HLA-DRB1 and DQB1 in Mexican patients: a relationship between HLA and gender is suggested.
|
18706091 |
2008 |
Narcolepsy
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
There was no difference in the MX2 expression level between the narcolepsy subjects and the HLA-DQB1 genotype-matched control subjects.
|
18517045 |
2008 |
Narcolepsy
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
The high frequency of HLA-DQB1*0602, low frequency of HLA-DQB1*0601 and low hypocretin levels in cataplexy-positive groups suggest that cataplexy-positive narcolepsy might be an etiologically different disease entity from the cataplexy-negative.
|
17297265 |
2007 |
Narcolepsy
|
0.800 |
Biomarker
|
disease |
BEFREE |
The cataplectic narcolepsy differed from non-cataplectic narcolepsy by having more rapid eye movement (REM)-related clinical symptoms (more sleep paralysis and sleep-related hallucination) and sleep disturbances (shorter REM latency), as well as tighter association with HLA DQB1*0602.
|
18388176 |
2008 |
Narcolepsy
|
0.800 |
Biomarker
|
disease |
BEFREE |
The association between narcolepsy and human leukocyte antigen HLA- DQB1*06:02 has been established elsewhere but remains to be investigated among Saudi Arabian patients with narcolepsy.
|
30187366 |
2019 |
Narcolepsy
|
0.800 |
Biomarker
|
disease |
CTD_human |
Genome-wide association study identifies new HLA class II haplotypes strongly protective against narcolepsy.
|
20711174 |
2010 |
Narcolepsy
|
0.800 |
Biomarker
|
disease |
BEFREE |
The importance of HLA DQB1*0602 typing in Slovene patients with narcolepsy.
|
12097985 |
2002 |
Narcolepsy
|
0.800 |
Biomarker
|
disease |
BEFREE |
Human narcolepsy is tightly associated with HLA-DQB1*0602; canine narcolepsy is linked with a DNA segment with high homology with the human immunoglobulin mu-switch segment, and the onset of canine narcolepsy is associated with increased microglial expression of major histocompatibility complex DQ and DR molecules.
|
9363189 |
1996 |
Narcolepsy
|
0.800 |
Biomarker
|
disease |
BEFREE |
Increased prevalence of HLA-DQB1*0602, a marker of narcolepsy, was observed in males but not in females with > or =2 SOREMPs.
|
16597649 |
2006 |
Narcolepsy
|
0.800 |
Biomarker
|
disease |
BEFREE |
We decided to test for the presence of several neuron-specific and organ-specific autoantibodies to see if they were present in HLA DQB1*0602-associated or cataplexy-associated narcolepsy or could serve as a serologic marker of the illness.
|
12405606 |
2002 |
Narcolepsy
|
0.800 |
Biomarker
|
disease |
BEFREE |
These results indicate that HLA-DQB1*0602 homozygosity increases susceptibility to narcolepsy but does not appear to influence disease severity.
|
9459509 |
1998 |
Narcolepsy
|
0.800 |
Biomarker
|
disease |
BEFREE |
The month-of-birth pattern in narcolepsy is moderated by cataplexy severity and may be independent of HLA-DQB1*0602.
|
15683136 |
2004 |
Narcolepsy
|
0.800 |
Biomarker
|
disease |
BEFREE |
HLA-DQB1*0602 forms a heterodimer with HLA-DQA1*0102 and may act as an antigen presenter to the T cell receptors, resulting in narcolepsy susceptibility.
|
28108192 |
2018 |
Narcolepsy
|
0.800 |
Biomarker
|
disease |
BEFREE |
HLA DQB1*0602 is found in most individuals with hypocretin-deficient narcolepsy, a disorder characterized by a severe disruption of sleep and wake.
|
21292329 |
2011 |
Narcolepsy
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Familial Kleine-Levin Syndrome: A Specific Entity?
|
27253765 |
2016 |
Narcolepsy
|
0.800 |
Biomarker
|
disease |
BEFREE |
In this paper, we extend an analysis of the effect of HLA-DQB1 on narcolepsy risk published recently by Tafti et al.
|
25325462 |
2015 |
Narcolepsy
|
0.800 |
Biomarker
|
disease |
BEFREE |
This diagnosis was defined as narcolepsy associated with cataplexy plus HLA-DQB1*06:02 positivity (no cerebrospinal fluid hypocretin-1 results available) or narcolepsy with documented low (≤ 110 pg/mL) cerebrospinal fluid hypocretin-1 level.
|
23649748 |
2013 |
Narcolepsy
|
0.800 |
Biomarker
|
disease |
BEFREE |
Although narcolepsy presents one of the tightest associations with a specific human leukocyte antigen (HLA) (DQB1*0602), there is strong evidence that non-HLA genes also confer susceptibility.
|
16754256 |
2006 |
Narcolepsy
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
An association analysis of HLA-DQB1 with narcolepsy without cataplexy and idiopathic hypersomnia with/without long sleep time in a Japanese population.
|
27081540 |
2015 |
Narcolepsy
|
0.800 |
Biomarker
|
disease |
BEFREE |
The association of narcolepsy with HLA-DQB1*0602 is established in Japanese, African-Americans, European, and North American Caucasians.
|
17207713 |
2007 |
Narcolepsy
|
0.800 |
Biomarker
|
disease |
BEFREE |
HLA DQB1*06:02 negative narcolepsy with hypocretin/orexin deficiency.
|
25197808 |
2014 |
Narcolepsy
|
0.800 |
Biomarker
|
disease |
BEFREE |
Biological markers of narcolepsy with cataplexy (classical narcolepsy) include sleep-onset REM periods (SOREM) on multiple sleep latency tests (MSLT), HLA-DQB1*0602 positivity, low levels of cerebrospinal fluid (CSF) hypocretin-1 (orexin A), increased body mass index (BMI), and high levels of CSF leptin.
|
14592354 |
2003 |
Narcolepsy
|
0.800 |
Biomarker
|
disease |
BEFREE |
Correlation between HLA-DQB1*06:02 and narcolepsy with and without cataplexy: approving a safe and sensitive genetic test in four major ethnic groups. A systematic meta-analysis.
|
30321823 |
2018 |
Narcolepsy
|
0.800 |
Biomarker
|
disease |
BEFREE |
The tight co-segregation of HLA DQB1*0602 and narcolepsy spectrum disorders might suggest that HLA typing, especially DQB1*0602, at least partly confer the familial risk of narcolepsy.
|
17682655 |
2007 |
Narcolepsy
|
0.800 |
Biomarker
|
disease |
BEFREE |
Polygenic risks in narcolepsy were estimated to explain 58.1% (P<sub>HLA-DQB1*06:02</sub>=2.30 × 10<sup>-48</sup>, P<sub>whole genome without HLA-DQB1*06:02</sub>=6.73 × 10<sup>-2</sup>) including HLA-DQB1*06:02 effects and 1.3% (P<sub>whole genome without HLA-DQB1*06:02</sub>=2.43 × 10<sup>-2</sup>) excluding HLA-DQB1*06:02 effects.
|
27305985 |
2016 |