Authors
Pauline Chaste, Lambertus Klei, Stephan J Sanders, Vanessa Hus, Michael T Murtha, Jennifer K Lowe, A Jeremy Willsey, Daniel Moreno-De-Luca, W Yu Timothy, Eric Fombonne, Daniel Geschwind, Dorothy E Grice, David H Ledbetter, Shrikant M Mane, Donna M Martin, Eric M Morrow, Christopher A Walsh, James S Sutcliffe, Christa Lese Martin, Arthur L Beaudet, Catherine Lord, Matthew W State, Edwin H Cook Jr, Bernie Devlin
Publication date
2015/5/1
Journal
Biological psychiatry
Volume
77
Issue
9
Pages
775-784
Publisher
Elsevier
Description
Background
Phenotypic heterogeneity in autism has long been conjectured to be a major hindrance to the discovery of genetic risk factors, leading to numerous attempts to stratify children based on phenotype to increase power of discovery studies. This approach, however, is based on the hypothesis that phenotypic heterogeneity closely maps to genetic variation, which has not been tested. Our study examines the impact of subphenotyping of a well-characterized autism spectrum disorder (ASD) sample on genetic homogeneity and the ability to discover common genetic variants conferring liability to ASD.
Methods
Genome-wide genotypic data of 2576 families from the Simons Simplex Collection were analyzed in the overall sample and phenotypic subgroups defined on the basis of diagnosis, IQ, and symptom profiles. We conducted a family-based association study, as well as estimating heritability and evaluating …
Scholar articles
P Chaste, L Klei, SJ Sanders, V Hus, MT Murtha… - Biological psychiatry, 2015