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Table 6 Overview of studies using Multipe collections

From: Bio-collections in autism research

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.

  1. Study numbers listed as families or subjects wherever applicable