发表日期
2014/1/1
期刊
Sleep
卷号
37
期号
1
页码范围
19-25
出版商
Oxford University Press
简介
Study Objective
Prior research has identified five common genetic variants associated with narcolepsy with cataplexy in Caucasian patients. To replicate and/or extend these findings, we have tested HLA-DQB1, the previously identified 5 variants, and 10 other potential variants in a large European sample of narcolepsy with cataplexy subjects.
Design
Retrospective case-control study.
Setting
A recent study showed that over 76% of significant genome-wide association variants lie within DNase I hypersensitive sites (DHSs). From our previous GWAS, we identified 30 single nucleotide polymorphisms (SNPs) with P < 10−4 mapping to DHSs. Ten SNPs tagging these sites, HLA-DQB1, and all previously reported SNPs significantly associated with narcolepsy were tested for replication.
Patients and Participants
For GWAS, 1,261 narcolepsy …