Relationship between T-cell receptor α gene polymorphisms and symptomatic differences in patients with narcolepsy type 1  

作　　者：Hui Ouyang Fang Han Ze-Chen Zhou Qi-Wen Zheng Yang-Yang Wang Jun Zhang 

机构地区：[1]Department of Clinical Neurology, Peking University People's Hospital, Beijing 100044, China [2]Department of Clinical Pulmonology, Peking University People's Hospital, Beijing 100044, China [3]Department of Epidemiology and Biostatistics, School of Public Health, Peking University Health Science Center, Beijing 100191, China

出　　处：《Chinese Medical Journal》2019年第15期1796-1801,共6页中华医学杂志（英文版）

摘　　要：Background:Recent genome-wide association studies have identified an important role of T-cell receptor α(TRA) gene in the development of narcolepsy type 1.However,the role of TRA haplotype polymorphisms in the symptomatic diversity of narcolepsy remains unclear.This study aimed to investigate whether TRA polymorphisms can influence the symptomatic diversity of narcolepsy.Methods:Totally,903 patients with narcolepsy type 1 were included in the study.Patients were divided into different groups according to their symptoms.First,13 genotyped single nucleotide polymorphisms in the TRA were assessed for their association with symptoms of narcolepsy.We used the Chi-square test to determine differences in genotype frequencies in patients with narcolepsy.Further,we identified the haplotypes and variations of the TRA and tested their association with the symptoms of narcolepsy using a logistic regression model.Results:According to the results of the logistic regression,TRA haplotypes TG and CT were significantly associated with auditory hallucination,with odds ratios of 1.235 (95% confidence interval [CI],1.012-1.507) and 1.236 (95% CI,1.012-1.511),respectively (P < 0.05).Contusions:The patterns of haplotype in TRA (haplotypes TG and CT) are associated with hypnagogic auditory hallucination in patients with narcolepsy type 1.However,further studies are needed to confirm our results and explore the underlying mechanisms.

关 键 词：NARCOLEPSY T-CELL receptor α gene SYMPTOMATIC SUBTYPE HAPLOTYPE Precision medicine 

分 类 号：R[医药卫生]