Table 2.
Summary of genome-wide studies of expression in ASD.
| Reference | Samples (cases/controls)a | Tissue source | Pathways identified |
|---|---|---|---|
| (53) | 3/3b | LCLs | Neurodevelopment |
| (54) | 49/12 | PBLs | Immune and inflammatory response (mediated by NK cells), cytotoxicity |
| (55) | 15/15 | LCLs | Cell communication, immune and inflammatory response |
| (56) | 20/– | LCLs | Steroid hormone metabolism |
| (57) | 86/30 | LCLs | Steroid hormone metabolism, circadian rhythm |
| (58) | 52/27 | PBLs | immune and inflammatory response (mediated by NK cells) |
| (59) | 20/22 | LCLs | Neurodevelopment, synaptic function (long-term potentiation) |
| (60) | 10/23 | CB, PFC, CN | Synaptic function |
| (61) | 6/6 | TC | Immune and inflammatory response |
| (62) | 19/17 | FC, TC, CB | Synaptic function, immune and inflammatory response |
| (46) | 32/40 | PFC, FC | Microglial function, immune response, neuronal activity |
| (63) | 70/60 | PBLs | Neurodevelopment; signaling; skeletal development |
| (48) | 20/18 | PBLs | Ribosome function, spliceosome function, mitochondrial, immune and inflammatory response, calcium signaling |
| (47) | 170/115 | PBLs | Neurotrophic signaling, notch signaling; synaptic function (long-term potentiation) |
| (45) | 60/68 | PBMCs | Immune and inflammatory response; hemoglobin metabolism |
| (49) | 3/3b, c | LCLs | Neurodevelopment, skeletal development, gastrointestinal development, steroid hormone metabolism, circadian rhythm |
LCLs, lymphoblastoid cell lines; CB, cerebellum; PFC, prefrontal cortex; CN, cingulate nucleus; FC, frontal cortex; TC, temporal cortex.
aSome cases also had other syndromes such as Fragile X.
bThree discordant twin pairs, two with unaffected siblings.
cMicroRNAs analyzed. Adapted from Ref. (43).