Genome-Wide Copy Number Variation in Sporadic Amyotrophic Lateral Sclerosis in the Turkish Population: Deletion of EPHA3 Is a Possible Protective Factor: e72381

The genome-wide presence of copy number variations (CNVs), which was shown to affect the expression and function of genes, has been recently suggested to confer risk for various human disorders, including Amyotrophic Lateral Sclerosis (ALS). We have performed a genome-wide CNV analysis using PennCNV...

Full description

Saved in:
Bibliographic Details
Published in:PloS one 2013-08, Vol.8 (8)
Main Authors: Uyan, Oezguen, Oemuer, Oezguer, Agim, Zeynep Sena, Oezoguz, Aslihan, Li, Hong, Parman, Yesim, Deymeer, Feza, Oflazer, Piraye, Koc, Filiz, Tan, Ersin
Format: Article
Language:English
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:The genome-wide presence of copy number variations (CNVs), which was shown to affect the expression and function of genes, has been recently suggested to confer risk for various human disorders, including Amyotrophic Lateral Sclerosis (ALS). We have performed a genome-wide CNV analysis using PennCNV tool and 733K GWAS data of 117 Turkish ALS patients and 109 matched healthy controls. Case-control association analyses have implicated the presence of both common (>5%) and rare (
ISSN:1932-6203
DOI:10.1371/journal.pone.0072381