title: TCRA, P2RY11, and CPT1B/CHKB associations in Chinese narcolepsy.
abstract: OBJECTIVE
  Polymorphisms in the TCRA and P2RY11, two immune related genes, are associated with narcolepsy in Caucasians and Asians. In contrast, CPT1B/CHKB polymorphisms have only been shown to be associated with narcolepsy in Japanese, with replication in a small group of Koreans. Our aim was to study whether these polymorphisms are associated with narcolepsy and its clinical characteristics in Chinese patients with narcolepsy.
  
  
  METHODS
  We collected clinical data on 510 Chinese patients presenting with narcolepsy/hypocretin deficiency. Patients were included either when hypocretin deficiency was documented (CSF hypocretin-1≤110 pg/ml, n=91) or on the basis of the presence of clear cataplexy and HLA-DQB1∗0602 positivity (n=419). Genetic data was compared to typing obtained in 452 controls matched for geographic origin within China. Clinical evaluations included demographics, the Stanford Sleep Inventory (presence and age of onset of each symptom), and Multiple Sleep Latency Test (MSLT) data.
  
  
  RESULTS
  Chinese narcolepsy was strongly and dose dependently associated with TCRA (rs1154155C) and P2RY11 (rs2305795A) but not CPT1B/CHKB (rs5770917C) polymorphisms. CPT1B/CHKB polymorphisms were not associated with any specific clinical characteristics. TCRA rs1154155A homozygotes (58 subjects) had a later disease onset, but this was not significant when corrected for multiple comparisons, thus replication is needed. CPT1B/CHKB or P2RY11 polymorphisms were not associated with any specific clinical characteristics.
  
  
  CONCLUSIONS
  The study extends on the observation of a strong multiethnic association of polymorphisms in the TCRA and P2RY11 with narcolepsy, but does not confirm the association of CPT1B/CHKB (rs5770917) in the Chinese population.
authors.affiliation: Department of Pulmonary Medicine, Peking University People's Hospital, Beijing, China. hanfang1@hotmail.com
authors.forename: Fang
authors.initials: F
authors.lastname: Han
authors.forename: Ling
authors.initials: L
authors.lastname: Lin
authors.forename: Jing
authors.initials: J
authors.lastname: Li
authors.forename: Adi
authors.initials: A
authors.lastname: Aran
authors.forename: Song X
authors.initials: SX
authors.lastname: Dong
authors.forename: Pei
authors.initials: P
authors.lastname: An
authors.forename: Long
authors.initials: L
authors.lastname: Zhao
authors.forename: Qian Y
authors.initials: QY
authors.lastname: Li
authors.forename: Han
authors.initials: H
authors.lastname: Yan
authors.forename: Jie S
authors.initials: JS
authors.lastname: Wang
authors.forename: Hui Y
authors.initials: HY
authors.lastname: Gao
authors.forename: Mei
authors.initials: M
authors.lastname: Li
authors.forename: Zhan C
authors.initials: ZC
authors.lastname: Gao
authors.forename: Kingman P
authors.initials: KP
authors.lastname: Strohl
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Mignot
mesh_terms: D000293:Adolescent; D044466:Asian People / Q000235:genetics* / Q000706:statistics & numerical data; D002334:Carnitine O-Palmitoyltransferase / Q000235:genetics*; D002681:China / Q000453:epidemiology; D002797:Choline Kinase / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics; D005838:Genotype; D059866:HLA-DQ beta-Chains / Q000235:genetics; D006801:Humans; D008297:Male; D009290:Narcolepsy / Q000208:ethnology / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics; D016693:Receptors, Antigen, T-Cell, alpha-beta / Q000235:genetics*; D018048:Receptors, Purinergic P2 / Q000235:genetics*; D012307:Risk Factors; D055815:Young Adult
chemical_list: D059866:HLA-DQ beta-Chains; C069051:HLA-DQB1 antigen; C109734:P2RY11 protein, human; D016693:Receptors, Antigen, T-Cell, alpha-beta; D018048:Receptors, Purinergic P2; C542591:CPT1B protein, human; D002334:Carnitine O-Palmitoyltransferase; C542592:CHKB protein, human; D002797:Choline Kinase