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A Genome-Wide Association Study of Autism Incorporating Autism Diagnostic Interview–Revised, Autism Diagnostic Observation Schedule, and Social Responsiveness Scale

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  • We gratefully thank all the children and their families who were enrolled in this study, and all individuals who donated blood samples for research purposes. We also acknowledge the resources provided by the AGRE Consortium and participating families. We thank the technical staff at the Center for Applied Genomics at CHOP for producing the genotypes used for analyses, and the nursing, medical assistant and medical staff for their help with recruitment. All genotyping of the AGRE cohort was supported by an Institutional Development Award to the Center for Applied Genomics at the Children’s Hospital of Philadelphia. The study was supported in part by a Research Award from the Margaret Q. Landenberger Foundation, by the PA Department of Health (PADOH) grant for the CHOP/PENN Center for Excellence for Autism Research, and a Research Development Award from the Cotswold Foundation.

concerning this article should be addressed to Hakon Hakonarson, Center for Applied Genomics, Abramson Research Center, 1216E, The Children’s Hospital of Philadelphia, Philadelphia, PA 19104. Electronic mail may be sent to hakonarson@chop.edu.

Abstract

Efforts to understand the causes of autism spectrum disorders (ASDs) have been hampered by genetic complexity and heterogeneity among individuals. One strategy for reducing complexity is to target endophenotypes, simpler biologically based measures that may involve fewer genes and constitute a more homogenous sample. A genome-wide association study of 2,165 participants (mean age = 8.95 years) examined associations between genomic loci and individual assessment items from the Autism Diagnostic Interview–Revised, Autism Diagnostic Observation Schedule, and Social Responsiveness Scale. Significant associations with a number of loci were identified, including KCND2 (overly serious facial expressions), NOS2A (loss of motor skills), and NELL1 (faints, fits, or blackouts). These findings may help prioritize directions for future genomic efforts.

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