Identification of candidate intergenic risk loci in autism spectrum disorder

Susan Walker and Stephen W Scherer, Identification of candidate intergenic risk loci in autism spectrum disorder, BMC Genomics 2013

Non-coding genomic sequence also contains functional elements introducing additional disease risk loci for investigation. We have performed genome-wide analyses and identified rare inherited CNVs affecting non-genic intervals in 41 of 1491 (3%) of ASD cases examined. Examples of such intergenic CNV regions include 16q21 and 2p16.3 near known ASD risk genes CDH8 and NRXN1 respectively, as well as novel loci contiguous with ZHX2, MOCS1, LRRC4C, SEMA3C, and other genes.

A collection of 1491 unrelated ASD cases were genotyped using either the Illumina 1M (993) or the Affymetrix SNP 6.0 platforms (498).

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out / Change )

Twitter picture

You are commenting using your Twitter account. Log Out / Change )

Facebook photo

You are commenting using your Facebook account. Log Out / Change )

Google+ photo

You are commenting using your Google+ account. Log Out / Change )

Connecting to %s