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).