TCRA, P2RY11, and CPT1B/CHKB associations in Chinese narcolepsy
| Autor: | Zhan C. Gao, Jing Li, Han Yan, Song X. Dong, Pei An, Long Zhao, Kingman P. Strohl, Hui Y. Gao, Mei Li, Fang Han, Jie S. Wang, Ling Lin, Qian Y. Li, Emmanuel Mignot, Adi Aran |
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| Jazyk: | angličtina |
| Rok vydání: | 2011 |
| Předmět: |
Male
medicine.medical_specialty China Adolescent Genotype Receptors Antigen T-Cell alpha-beta Immune related genes Article Young Adult HLA-DQ beta-Chains Asian People Polymorphism (computer science) Risk Factors Internal medicine Medicine Choline Kinase Humans Genetic Predisposition to Disease Young adult Narcolepsy Polymorphism Genetic Carnitine O-Palmitoyltransferase Extramural business.industry Receptors Purinergic P2 General Medicine medicine.disease Orexin Endocrinology Immunology Female business |
| Popis: | 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.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.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.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. |
| Databáze: | OpenAIRE |
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