Close genetic relationships between a spousal pair with autism-affected children and high minor allele content in cases in autism-associated SNPs

Parents of children affected with autism spectrum disorders (ASD) often have mild forms of autistic-like characteristics. Past studies have focused on searching for individual genetic risk loci of ASD. Here we studied the overall properties of the genomes of ASD trios by using previously published genome-wide data for common SNPs. The pairwise genetic distance (PGD) between a spousal pair with ASD-affected children was found smaller than that of a random pair selected among the spouses in the ASD trios, and spousal relatedness correlated with severe forms of ASD. Furthermore, for a set of 970 ASD associated SNPs, cases showed higher homozygous minor allele content than parents. These results indicate new genetic elements in the broad phenotypes of parents with ASD-affected offspring and in ASD pathogenesis. Highlights The overall properties of the genomes of ASD trios show ASD specific features. A spousal pair with ASD-affected children showed smaller genetic distance than that of a randomly selected pair among the spouses in the ASD trios. Minor allele contents in ASD-associated SNPs in ASD cases were greater than those in the parents of cases.