Table 1. Overview of the clinical samples from six published GWASs of ASDs11, 12, 13, 14, 15, 16.
GWAS | Clinical sample | Genotyping platform | Phenotype | Diagnosis |
---|---|---|---|---|
Wang et al.11 | Combined discovery sample (AE): AGRE (943 families) a + ACC cohort (1453 cases and 7070 controls) from CHOP and several other US clinical sites | Illumina | ASD | ADOS+ADI-R |
Ma et al.12 | CAP discovery sample (AE): four US clinical sites (438 families) | Illumina | Autism | ADI-R+DSM-IV |
Weiss et al.13 | Combined discovery sample (AE), consisting of 1031 multiplex families with 1553 affected offspring from: AGRE (801 families) a + NIMH (341 families) | Affymetrix | ASD | ADI-R |
Salyakina et al.14 | Combined sample: discovery sample from two US clinical sites (124 families) + AGRE validation sample (110 families) | Illumina | ASP | ADI-R+DSM-IV |
Hussman et al.15 | Combined sample: sample from two US clinical sites (597 families) + AGRE sample (696 families) | Illumina | Autism | ADI-R+DSM-IV |
Anney et al.16 | AGP Consortium discovery sample (AE): Autism (809 families) + ASD (1369 families) | Illumina | Autism+ASD | ADOS+ADI-R |
Abbreviations: ACC, Autism Case Control; ADOS, Autism Diagnostic Observation Schedule; ADI-R, Autism Diagnostic Interview-Revised; AE, all ethnicities; AGP, Autism Genome Project; AGRE, Autism Genetic Resource Exchange; ASD, autism spectrum disorder; ASP, Asperger's syndrome; CAP, Collaborative Autism Project; CHOP, Children's Hospital of Philadelphia; DSM-IV, Diagnostic and Statistical Manual of Mental Disorders-fourth edition; GWAS, genome-wide association study; NIMH, National Institute for Mental Health.