Table 1.
Genes and specific variants assessed in the genetic neuroimaging studies included in the review
| Gene | Chromosome | Protein | Function | Polymorphisms included in this review | SNP Location | Functional consequences of the SNP | References |
|---|---|---|---|---|---|---|---|
| BDNF | 11p13 | Brain derived neurotrophic factor | Neurotrophin that plays a role in neurodevelopmental processes, synaptic and cognitive plasticity, and neurotransmission | Val66Met (rs6265) | Exon 2 | Met allele associated with impaired secretion and lower distribution of BDNF protein in neurons | Buckley et al.;71 Chen et al.;72 Egan et al.73 |
| NRG1 | 8p12-21 | Neuregulin 1 | Mediates cell-cell signaling, plays a role in neural development, neurotransmission and synaptic plasticity | SNP8NRG221533 (rs35753505) | Intronic, 5’ flanking region | Unknown | Harrison and Weinberger;74 Stefansson et al.75 |
| Microsatellite: 420M9-1395 | 5’ region | Unknown | |||||
| DISC1 | 1q42.1 | Disrupted in schizophrenia 1 | Neurodevelopment and synaptic regulation | Leu607Phe (rs6675281) | Exon 9 | Allele Phe607 and Cys704 affect expression of alternative transcripts of DISC1 that are expressed in early human brain development | Hennah and Porteus;76 Nakata et al.77 |
| Cys704Ser (rs821616) | Exon 11 | ||||||
| CNR1 | 6q14-15 | Cannabinoid receptor 1 | GPCR for cannabinoids, mediates cannabinoid-induced CNS effects by modulating synaptic function and neurotransmission | rs1049353 | Exon 4 | Unknown | Castillo;82 Parsons and Hurd83 |
| rs2023239 | Intron 2 | Unknown | |||||
| GAD1 | 2q31.1 | GAD67 (glutamic acid decarboxylase) | Enzyme that catalyzes GABA synthesis in inhibitory neurons | rs2270335 | Intron 1 | Unknown | Blum and Mann;78 Straub et al.79 |
| rs2241165 | Intron 2 | Unknown | |||||
| G72 | 13q32-34 | D-amino acid oxidase activator | May regulate glutamate neurotransmission through interaction with DAAO. One isoform may play a role in mitochondrial function | rs3916965 | 5’ region | NA (sample divided and analyzed by haplotype, not individual SNPs) | Chumakov et al.;80 Kvajo et al.81 |
| rs3916967 | 5’ region | ||||||
| rs2391191 (Arg30Lys) | Exon 2 | ||||||
| rs778294 | Intron 3 | ||||||
| Hap 1: AGAG | |||||||
| Hap 2: GAGG | |||||||
| Hap 3: GAGA | |||||||
| COMT | 22q11 | Catechol-O-methyl transferase | Enzyme that plays a role in the breakdown of catecholamines, including dopamine | Val158Met (rs4680) | Exon 4 | Met allele encodes a lower-activity COMT variant, leading to impaired dopamine catabolism | Chen et al.;72 Harrison and Weinberger74 |
Only SNPs and haplotypes that demonstrated an association with structural brain changes in the studies included in the review are shown
Arg arginine, CNS central nervous system, Cyscysteine, DAAO D-amino acid oxidase, Hap haplotype, Leu leucine, Lys lysine, Met methionine, Phe phenylalanine, Ser serine, NA not applicable, SNP single nucleotide polymorphism, Val valine