TCRA, P2RY11, and CPT1B/CHKB associations in Chinese narcolepsy

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• 作者：Fang Han^a ; ^{hanfang1@hotmail.com} ; Ling Lin^b ; Jing Li^a ; Adi Aran^b ; Song X. Dong^a ; Pei. An^a ; Long Zhao^a ; Qian Y. Li^a ; Han Yan^a ; Jie S. Wang^a ; Hui Y. Gao^a ; Mei Li^a ; Zhan C. Gao^a ; Kingman P. Strohl^c ; Emmanuel Mignot^b
• 关键词：Narcolepsy ; TCR alpha ; P2RY11 ; CPT1B/CHKB ; Hypocretin ; Orexin ; MSLT ; HLA-DQB1&lowast ; 0602
• 刊名：Sleep Medicine
• 出版年：2012
• 期刊代码：241_13899457
• 类别：med
• 出版时间：March, 2012
• 卷：13
• 期：3
• 页码：269-272
• 文件大小：165 K

摘要

Objectives

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 猢?#xA0;110 pg/ml, n = 91) or on the basis of the presence of clear cataplexy and HLA-DQB1鈭?602 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.