Table 6.
Overview of studies using Multipe collections
| Reference | Biobank | Sample type | Number | Study | Findings |
|---|---|---|---|---|---|
| [119] | SSC and AGRE | Blood and genomic data | 8044 subjects (AGRE) 4348 subjects (SSC) |
Genome-wide survey on translational effects | Investigation of maternal genetic effects in ASD. Validation using other data sets (SSC and AGRE) did not reproduce similar results). |
| [354] | SSC and AGRE | Genomic and clinical data | Subjects (AGRE) 941 1048 subjects (SSC) |
Gene association study | ATP2C2 and MRPL19 found to be associated with language impairment and dyslexia, respectively |
| [122] | SSC and AGRE | Blood | AGRE–127 subjects SSC–75 subjects |
Parallel sequencing study | Rare variants of the AFF2 gene found to associated with ASD susceptibility in males |
| [355] | SSC and AGRE | Genomic data | 359 subjects (AGRE) SS–885 subjects |
GWAS | Female protective effect in ASD is not mediated by a single genetic locus. |
| [356] | AGRE and SSC | Genomic data | 13 subjects (AGRE) 3 subjects (SSC) |
WES | Loss of CTNND2 function linked to severe ASD |
| [86] | SSC and TASC | Blood and lymphoblasts | 15480 (total) 2475(SSC) 601(TASC) |
WES | 107 genes implicated in ASD. These genes are responsible for synaptic formation, chromatin remodelling and transcriptional regulation |
| [123] | SSC and AGRE | Blood and lymphoblasts, genomic and clinical data | 5657 subjects (total) 1555 subjects (AGRE) 872 subjects (SSC) |
WES | Mutations in SHANK1, 2 and 3 accounts for 1 in 50 ASD cases. SHANK1 mutations linked to mild effects, SHANK2 for moderate and SHANK2 for severe. |
Study numbers listed as families or subjects wherever applicable