Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.

ABSTRACT:

Background

Autism spectrum disorder (ASD) is an early-onset neurodevelopmental disorder with complex genetic underpinning in its etiology. Copy number variations (CNVs) as one of the genetic factors associated with ASD have been addressed in recent genome-wide association studies (GWAS). However, the significance of CNV has not been well investigated in non-Caucasian ASD population.

Methods

To identify the pathogenic CNVs responsible for ASD in Han Chinese, we performed a segment-based GWAS of CNV in 335 ASD cases and 1093 healthy controls using Affymetrix single nucleotide polymorphism (SNP) array by focusing on case-specific CNVs. PARK2 was one of the important genes with several case-specific regions overlapped on it. The findings were validated in the initial screen samp

SUBMITTER: Yin CL 

PROVIDER: S-EPMC4818409 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature