Mapping autism risk loci using genetic linkage and chromosomal rearrangements

Autism spectrum disorders (ASD) are common, heritable neurodevelopmental conditions. The genetic architecture of ASD is complex, requiring large samples to overcome heterogeneity. Here we broaden coverage and sample size relative to other studies of ASD by using Affymetrix 10K single nucleotide polymorphism (SNP) arrays and 1168 families with = 2 affected individuals to perform the largest linkage scan to date, while also analyzing copy number variation (CNV) in these families. Linkage and CNV analyses implicate chromosome 11p12-p13 and neurexins, respectively, amongst other candidate loci. Neurexins team with previously-implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for ASD. Keywords: Autism spectrum disorder, Affymetrix SNP genotyping, linkage analysis, copy number analysis, chromosomal rearrangements. This is a large linkage study undertaken by The Autism Genome Project (AGP) Consortium to search for candidate genes underlying the etiology of autism. 1168 Muliplex families (= 2 affected individuals) consisting of 7600 individuals were genotyped using Affymetrix 10K whole genome mapping arrays. Copy number analysis was performed using DNA Chip (dChip) Analyzer.