DQB1 locus alone explains most of the risk and protection in narcolepsy with cataplexy in Europe.

ABSTRACT:

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, HLADQB1, and all previously reported SNPs significantly associated with narcolepsy were tested for replication

SUBMITTER: Tafti M 

PROVIDER: S-EPMC3865351 | biostudies-literature | 2014 Jan

REPOSITORIES: biostudies-literature