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http://purl.uniprot.org/citations/24157097http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/24157097http://www.w3.org/2000/01/rdf-schema#comment"

Background

Narcolepsy is a rare, chronic, disabling neuropsychiatric disorder characterized by excessive daytime sleepiness, cataplexy, hypnagogic hallucinations, sleep paralysis, and abnormal rapid eye movement sleep. It is strongly associated with the HLA-DQB1(∗)06:02 allele in various ethnic groups. Our study aimed to investigate the allelic spectrum of HLA-DQB1 in a sample of Han Chinese patients with narcolepsy and control subjects from Taiwan.

Methods

We determined the genotype of the major histocompatibility complex, class II, DQ β1 gene, HLA-DQB1, in 72 narcolepsy subjects (44 men, 28 women), including 52 narcolepsy subjects with cataplexy (narcolepsy+cataplexy), 20 narcolepsy subjects without cataplexy (narcolepsy-cataplexy), and 194 control subjects (94 men, 100 women) using a sequence-specific oligonucleotide-probe hybridization technique.

Results

We found a strong HLA-DQB1(∗)06:02 association in narcolepsy+cataplexy subjects (odds ratio [OR], 321.4 [95% confidence interval {CI}, 70.7-1461.4]). The association was less prominent in narcolepsy-cataplexy subjects (OR, 6.9 [95% CI, 2.4-20.1]). In addition to the DQB1(∗)06:02, we found that (∗)03:01 also was a predisposing allele (OR, 2.0 [95% CI, 1.1-3.7]) in narcolepsy+cataplexy subjects, though the (∗)06:01 was a predisposing allele (OR, 2.8 [95% CI, 1.2-6.7]) in narcolepsy-cataplexy subjects. Furthermore, we found a significant overrepresentation of DQB1(∗)06:02 homozygotes in narcolepsy+cataplexy subjects.

Conclusions

Our data add further support to the strong association of the HLA-DQB1(∗)06:02 allele with narcolepsy, especially in narcolepsy+cataplexy patients. Our study also indicates additional HLA-DQB1 alleles may modify the presentation of narcolepsy+cataplexy patients, such as DQB1(∗)03:01 and DQB1(∗)06:01 in our study. Our results are limited by the small sample size and can only be considered as preliminary findings."xsd:string
http://purl.uniprot.org/citations/24157097http://purl.org/dc/terms/identifier"doi:10.1016/j.sleep.2013.06.017"xsd:string
http://purl.uniprot.org/citations/24157097http://purl.uniprot.org/core/author"Chen C.H."xsd:string
http://purl.uniprot.org/citations/24157097http://purl.uniprot.org/core/author"Chen Y.H."xsd:string
http://purl.uniprot.org/citations/24157097http://purl.uniprot.org/core/author"Huang Y.S."xsd:string
http://purl.uniprot.org/citations/24157097http://purl.uniprot.org/core/author"Chien W.H."xsd:string
http://purl.uniprot.org/citations/24157097http://purl.uniprot.org/core/date"2013"xsd:gYear
http://purl.uniprot.org/citations/24157097http://purl.uniprot.org/core/name"Sleep Med"xsd:string
http://purl.uniprot.org/citations/24157097http://purl.uniprot.org/core/pages"1393-1397"xsd:string
http://purl.uniprot.org/citations/24157097http://purl.uniprot.org/core/title"Association analysis of the major histocompatibility complex, class II, DQ beta1 gene, HLA-DQB1, with narcolepsy in Han Chinese patients from Taiwan."xsd:string
http://purl.uniprot.org/citations/24157097http://purl.uniprot.org/core/volume"14"xsd:string
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