Table 1.
Common genetic variants associated with severity of core symptoms of ASD and neurocognitive measurements.
| Phenotype Measures1 | Name | Locus2 | EA/OA3 | Genes | All individuals | European individuals | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Beta (s.e.) | p-value | FDR | N | Beta (s.e.) | p-value | FDR | N | |||||
| ADI-R | Social | 12:123737933 | T/G | MTHFR (intron) | 1.93 (0.374) | 2.30 × 10−7 | 0.061 | 1881 | 2.11 (0.408) | 2.40 × 10−7 | 0.13 | 1239 |
| 12:123852510 | A/G | SBNO1 (upstream) | 1.89 (0.366) | 2.40 × 10−7 | 0.061 | NS | ||||||
| ADOS (Module 1) | Play | 3:194058802 | CATTTT/C | CPN2 (downstream) | −0.82 (0.160 | 2.60 × 10−7 | 0.11 | 522 | NS | 311 | ||
| ADOS (Module 3) | Communication | 7:73420195 | T/C | ELN (upstream) | 0.91 (0.176) | 2.50 × 10−7 | 0.12 | 600 | 0.96 (0.190) | 4.50 × 10−7 | 0.25 | 440 |
| Stereotyped Behaviors and Restricted Interests | 8:100650223 | A/G | VPS13B (intron) | 0.52 (0.102) | 3.30 × 10−7 | 0.070 | 600 | 0.66 (0.121) | 4.50 × 10−8 | 0.017 | 440 | |
| 8:100717925 | G/T | 0.57 (0.109) | 1.80 × 10−7 | 0.070 | 0.71 (0.130) | 4.50 × 10−8 | 0.017 | |||||
| 9:74893024 | A/G | −0.64 (0.126) | 2.90 × 10−7 | 0.070 | NS | |||||||
| Total score | 3:118637716 | A/C | IGSF11 (intron) | 2.76 (0.546) | 4.30 × 10−7 | 0.20 | 598 | NS | 438 | |||
| RPCM | Total score | 4:97178781 | A/G | 1.8 (0.350) | 2.50 × 10−7 | 0.24 | 1051 | NS | 697 | |||
1ADI-R Autism Diagnostic Interview-Revised, ADOS Autism Diagnostic Observation Schedule, RBS Repetitive Behavior Scale-Revised, RPCM Raven’s Progressive Colored Matrices.
2All genomic positions are given in Genome Reference Consortium Human Build 37 (GRCh37).
3EA Effect allele, OA Other allele, s.e.: standard error, FDR false discovery rate estimated using Benjamini-Hochberg procedure, NS: not significant at p < 5 × 10−7.