Association analysis of the major histocompatibility complex, class II, DQ β1 gene, HLA-DQB1, with narcolepsy in Han Chinese patients from Taiwan. 2013

Yun-Hsiang Chen, and Yu-Shu Huang, and Wei-Hsien Chien, and Chia-Hsiang Chen
Center for Neuropsychiatric Research, National Health Research Institutes, Zhunan, Taiwan.

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.

UI MeSH Term Description Entries
D008297 Male Males
D009290 Narcolepsy A condition characterized by recurrent episodes of daytime somnolence and lapses in consciousness (microsomnias) that may be associated with automatic behaviors and AMNESIA. CATAPLEXY; SLEEP PARALYSIS, and hypnagogic HALLUCINATIONS frequently accompany narcolepsy. The pathophysiology of this disorder includes sleep-onset rapid eye movement (REM) sleep, which normally follows stage III or IV sleep. (From Neurology 1998 Feb;50(2 Suppl 1):S2-S7) Gelineau Syndrome,Narcolepsy-Cataplexy Syndrome,Paroxysmal Sleep,Gelineau's Syndrome,Narcoleptic Syndrome,Gelineau's Syndromes,Gelineaus Syndrome,Narcolepsy Cataplexy Syndrome,Narcolepsy-Cataplexy Syndromes,Narcoleptic Syndromes,Sleep, Paroxysmal,Syndrome, Gelineau,Syndrome, Gelineau's,Syndrome, Narcolepsy-Cataplexy,Syndrome, Narcoleptic,Syndromes, Gelineau's,Syndromes, Narcolepsy-Cataplexy,Syndromes, Narcoleptic
D002385 Cataplexy A condition characterized by transient weakness or paralysis of somatic musculature triggered by an emotional stimulus or physical exertion. Cataplexy is frequently associated with NARCOLEPSY. During a cataplectic attack, there is a marked reduction in muscle tone similar to the normal physiologic hypotonia that accompanies rapid eye movement sleep (SLEEP, REM). (From Adams et al., Principles of Neurology, 6th ed, p396) Henneberg Syndrome,Status Cataplexicus,Tonelessness Syndrome,Cataleptic Attacks,Attack, Cataleptic,Attacks, Cataleptic,Cataleptic Attack,Syndrome, Henneberg,Syndrome, Tonelessness,Syndromes, Tonelessness,Tonelessness Syndromes
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D012307 Risk Factors An aspect of personal behavior or lifestyle, environmental exposure, inborn or inherited characteristic, which, based on epidemiological evidence, is known to be associated with a health-related condition considered important to prevent. Health Correlates,Risk Factor Scores,Risk Scores,Social Risk Factors,Population at Risk,Populations at Risk,Correlates, Health,Factor, Risk,Factor, Social Risk,Factors, Social Risk,Risk Factor,Risk Factor Score,Risk Factor, Social,Risk Factors, Social,Risk Score,Score, Risk,Score, Risk Factor,Social Risk Factor
D013624 Taiwan Country in eastern Asia, islands bordering the East China Sea, Philippine Sea, South China Sea, and Taiwan Strait, north of the Philippines, off the southeastern coast of China. The capital is Taipei. The alternate country name is Republic of China. Formosa,Republic of China
D044466 Asian People Persons having origins in any of the Asian racial groups of the Far East, Southeast Asia, or the Indian subcontinent including, for example, Cambodia, China, India, Japan, Korea, Malaysia, Pakistan, the Philippine Islands, Thailand, and Vietnam. Note that OMB category ASIAN is available for United States population groups. Race and ethnicity terms, as used in the federal government, are self-identified social construct and may include terms outdated and offensive in MeSH to assist users who are interested in retrieving comprehensive search results for studies such as in longitudinal studies. Asian Continental Ancestry Group,Asian Person,Asiatic Race,Mongoloid Race,Asian Peoples,Asian Persons,Asiatic Races,Mongoloid Races,People, Asian,Person, Asian,Race, Asiatic,Race, Mongoloid
D059866 HLA-DQ beta-Chains Transmembrane proteins that form the beta subunits of the HLA-DQ antigens. HLA Class II Histocompatibility Antigen, DQ beta Chains,HLA DQ beta Chains,beta-Chains, HLA-DQ
D019382 Human Growth Hormone A 191-amino acid polypeptide hormone secreted by the human adenohypophysis (PITUITARY GLAND, ANTERIOR), also known as GH or somatotropin. Synthetic growth hormone, termed somatropin, has replaced the natural form in therapeutic usage such as treatment of dwarfism in children with growth hormone deficiency. Somatotropin (Human),Somatropin (Human),Cryo-Tropin,Genotonorm,Genotropin,Humatrope,Maxomat,Norditropin,Norditropin Simplexx,Norditropine,Nutropin,Omnitrope,Recombinant Human Growth Hormone (Mammalian),Saizen,Serostim,Somatropin,Umatrope,Zomacton,hGH (Human Growth Hormone),r-hGH(m),r-hGH-M,Cryo Tropin,CryoTropin,Growth Hormone, Human

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