國家衛生研究院 NHRI:Item 3990099045/7594
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    题名: Association analysis of the major histocompatibility complex, class II, DQ beta1 gene, HLA-DQB1, with narcolepsy in Han Chinese patients from Taiwan
    其它题名: Association analysis of the major histocompatibility complex, class II, DQ β1 gene, HLA-DQB1, with narcolepsy in Han Chinese patients from Taiwan
    作者: Chen, YH;Huang, YS;Chien, WH;Chen, CH
    贡献者: Center for Neuropsychiatric Research
    摘要: 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.
    日期: 2013-12
    關聯: Sleep Medicine. 2013 Dec;14(12):1393-1397.
    Link to: http://dx.doi.org/10.1016/j.sleep.2013.06.017
    JIF/Ranking 2023: http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=NHRI&SrcApp=NHRI_IR&KeyISSN=1389-9457&DestApp=IC2JCR
    Cited Times(WOS): https://www.webofscience.com/wos/woscc/full-record/WOS:000327538300027
    Cited Times(Scopus): http://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&scp=84888137470
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