Association analysis of the major histocompatibility complex, class II, DQ beta 1 gene, HLA-DQB1, with narcolepsy in Han Chinese patients from Taiwan

作者：Chen Yun Hsiang; Huang Yu Shu; Chien Wei Hsien; Chen Chia Hsiang^*

来源：Sleep Medicine, 2013, 14(12): 1393-1397.

DOI：10.1016/j.sleep.2013.06.017

• Narcolepsy
• Human leukocyte antigen (HLA)
• Cataplexy
• Genetics
• Association
• Pathogenesis

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. %26lt;br%26gt;Methods: We determined the genotype of the major histocompatibility complex, class II, DQ beta 1 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. %26lt;br%26gt;Results: We found a strong HLA-DQB*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. %26lt;br%26gt;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.

• 出版日期2013-12
• 单位长春大学