TABLE 1.
The genetic influences on neuroanatomy in neurotypicals (NT genes) and individuals with autism (Autism genes), and their functional roles, that are mentioned in this review.
| NT genes | Association | References | Autism genes | Association | References |
| CT | |||||
| RPSA | Laminin, neurogenesis, neuronal differentiation, and neuronal migration | DiGiacomo and Meruelo, 2016 | SCN1A | Voltage-gated sodium channels | Weiss et al., 2003 |
| ACTR1B | Modulates the dynactin complex involved in neuronal migration | Itoh, 2016 | SLIT1, SLIT3 | Axonal midline crossing | Plump et al., 2002 |
| WNT3 | Wnt signalling | Hofer et al., 2020 | GABRA3, GABRA5 | GABA receptor subunit | Parikshak et al., 2016 |
| DAAM1 | Wnt signalling | Hofer et al., 2020 | GABRB1 | GABA receptor subunit | Parikshak et al., 2016 |
| SALL1 | Transcription | Hofer et al., 2020 | PTCHD1 | Excitatory synapses | Ross et al., 2020 |
| ADGRB3 | Synaptic functioning | Sticco et al., 2021 | SYN2 | Synapsin 2 | Corradi et al., 2014 |
| CDH2 | Neuronal differentiation | Alimperti and Andreadis, 2015 | SYT17 | Synaptotagmin 17 | Ruhl et al., 2019 |
| CHL1 | Neuronal survival | Chen et al., 1999 | FMR1 | Fragile X messenger ribonucleoprotein | DiMario, 2004 |
| ALOX5 | Microglia, synaptic functioning | Joshi et al., 2014 | TSC1 | Neuronal growth and migration | Fu et al., 2012 |
| BLNK | Immune function | Minegishi et al., 1999 | |||
| CYBB | Immune function | Rae et al., 1998 | |||
| ALDH5A1 | GABA catabolism | DiBacco et al., 2020 | |||
| ASTN1 | Neuronal migration | Horn et al., 2018 | |||
| MET | Synaptogenesis, migration | Campbell et al., 2006; Hedrick et al., 2012 | |||
| SA | |||||
| INA | Neuronal migration | Baum and Garriga, 1997 | BDNF | Neuronal proliferation and plasticity | Raznahan et al., 2009 |
| AS3MT | Neural plasticity | Zhao W. et al., 2021 | |||
| NT5C2 | Neural progenitor cells | Duarte et al., 2019 | |||
| EIF2AK4 | Synaptic plasticity, neuritogenesis | Roffé et al., 2013 | |||
| THBS1 | Synaptogenesis | Jayakumar et al., 2014 | |||
| ST7L | Wnt pathway | Savage et al., 2018 | |||
| WNT2B | Wnt pathway | Savage et al., 2018 | |||
| NSF | Synaptic transmission | Nishimune et al., 1998 | |||
| RSPO3 | Wnt signalling | Katoh and Katoh, 2017 | |||
| FOXO3 | Cell survival and apoptosis | Pino et al., 2014 | |||
| CV | |||||
| IGFBP7 | Learning, memory, neurogenesis | Xia et al., 2017 | SLC6A4 | Serotonin transporter gene | Katoh and Katoh, 2017 |
| ZNF804A | Zinc finger protein | Wei et al., 2015 | BDNF | Brain-derived neurotrophic factor | Baum and Garriga, 1997 |
| DAAM1 | Histone modification | van der Lee et al., 2019; Hofer et al., 2020 | OXTR | Oxytocin receptor | Pino et al., 2014 |
| THBS3 | Histone modification | van der Lee et al., 2019 | |||
| ZIC4 | Transcriptional regulation | van der Lee et al., 2019 | |||
| FGFRL1 | Fibroblast growth factor receptor | van der Lee et al., 2019 | |||
| RSPO3 | Wnt signalling | Hofer et al., 2020 | |||
| NSF | Synaptic transmission | Hofer et al., 2020 | |||
| FOXO3 | Cell survival and apoptosis | Hofer et al., 2020 | |||
| Gyrification | |||||
| SEMA3A | Axon guidance | Vo et al., 2013 | MECP2 | Rett syndrome | Keidar et al., 2019 |
| ROBO2 | Neuronal cell differentiation | Sung et al., 2013 | LIS1 | Lissencephaly | Keidar et al., 2019 |
| NAV2 | Neuronal migration | Pook et al., 2020; van der Meer et al., 2021 | |||
| Gyrification | |||||
| SEMA3A | Axon guidance | Vo et al., 2013 | MECP2 | Rett syndrome | Keidar et al., 2019 |
| ROBO2 | Neuronal cell differentiation | Sung et al., 2013 | LIS1 | Lissencephaly | Keidar et al., 2019 |
| NAV2 | Neuronal migration | Pook et al., 2020; van der Meer et al., 2021 | |||
| GWMC | |||||
| MIR137 (RNA gene) | Development, differentiation | The Schizophrenia Psychiatric Genome-Wide Association Study [GWAS] Consortium, 2011 | |||
| CACNAC1C | Calcium channel signaling | The Schizophrenia Psychiatric Genome-Wide Association Study [GWAS] Consortium, 2011 | |||
| ANK3 | Cell activation, proliferation | The Schizophrenia Psychiatric Genome-Wide Association Study [GWAS] Consortium, 2011 | |||
| ITIH3-ITIH4 | The Schizophrenia Psychiatric Genome-Wide Association Study [GWAS] Consortium, 2011 | ||||
| VCAN | Early cell remodeling | Wathlet et al., 2011 | |||
| NBEAL1 | Fetal development | Chen et al., 2004 | |||
| CACNB2 | Cortical thickness | Chen et al., 2020 | |||
Please note that this list is not comprehensive. For comprehensive reviews of genetic factors implicated in autism, see e.g (Woodbury-Smith and Scherer, 2018; Wiśniowiecka-Kowalnik and Nowakowska, 2019). CT, cortical thickness; CV, cortical volume; GWMC, grey-white matter tissue contrast; SA, surface area. Findings highlighted in grey did not replicate in follow-up studies (Papiol et al., 2014).