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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)
  1. *Not genome-wide significant; GWS, genome-wide significant defined as p < 5 × 10-8.