Table 3 Large-scale GWAS that reveal common and rare variants associated with ASD
From: Autism genetics: searching for specificity and convergence
Reference | Stage | Families | Type | Most significant findings |
|---|---|---|---|---|
Wang et al. 2009 [46] | 1 | 780 families, 3,101 participants (AGRE) | Multiplex | Top SNP rs4307059 (p = 1.1 × 10-5)* between CDH9 and CDH10; may disrupt a regulatory non-coding RNA [158]. |
|  | 2 | 1,204 cases, 6,491 controls (ACC) | Case/control | Top SNP rs4307059 (p = 2.2 × 10-4)* |
|  | 3 | Combined |  | GWS at rs4307059 (p = 3.4 × 10-8 combined with discovery cohorts; p = 2.1 × 10-10 combined with replication cohorts) |
Weiss et al. 2009 [47] | 1 | 1,031 families, 4,233 participants (AGRE, NIMH) | Multiplex and simplex | Top SNP rs10513025 (p = 1.7 × 10-6)* between SEMA5A and TAS2R1 |
|  | 2 | 318 trios (Boston Autism Consortium/Montreal), 1,755 trios (AGP, Finnish families, Iranian trios) | Multiplex and simplex | Top SNP rs10513025; p = 2.1 × 10-7*, combining replication and scan data |
Anney et al. 2010 [48] | 1 | 1,369 families (AGP), 1,385 cases(typically only one proband genotyped per family) | Multiplex and simplex | GWS at rs4141463 (p = 2.1 × 10-8) in MACROD2 (intronic) |
|  | 2 | 2,179 families (AGP group above/AGRE) | Multiplex and simplex | GWS at rs4141463 (p = 4.7 × 10-8) in MACROD2 (intronic) |