Table 4.
Brain Imaging Phenotype Associated Genes, Their Functions, and Associated Neurologic Phenotypes/Disorders
| Gene | Symbol | Function | Associated Neurologic Phenotype(s)/Disorder(s) |
|---|---|---|---|
| Acetyl-CoA Acyltransferase 1 | ACAA1 | Involved in neuronal growth and myelinogenesis (87) | Alzheimer’s disease (88) |
| Apolipoprotein E | APOE | Facilitates the transfer of cholesterol and phospholipid between cells, key role in neuronal development, brain plasticity, and repair (89) | Alzheimer’s disease, schizophrenia (41) |
| Aquaporin 7 | AQP7 | Allows movement of water, glycerol, and urea across cell membranesa | – |
| Armadillo Repeat Gene Deleted in Velocardiofacial Syndrome | ARVCF | Modulates neural cell-cell adhesion and migration (46) | Schizophrenia (46) |
| Brain-Derived Neurotrophic Factor | BDNF | Regulates cell survival, axonal outgrowth, dendritic growth, and synaptic plasticity (90) | Depression, bipolar disorder, schizophrenia, anxiety, autism, ADHD, substance abuse, eating disorders, Alzheimer’s disease (41) |
| Casein Kinase 1, Alpha 1 | CSNK1A1 | Suppressor of Wnt/β-catenin signalinga | Schizophrenia (91) |
| Casein Kinase 1, Alpha 1-like | CSNK1A1L | Involved in negative regulation of canonical Wnt signaling pathway and peptidyl-serine phosphorylationa | – |
| Catechol-O-Methyltransferase | COMT | Degrades dopamine and other catecholamines (92) | Schizophrenia (41) |
| Discs Large MAGUK Scaffold Protein 4 | DLG4 | Synapse structure and development (44) | Intellectual disability, epilepsy, autism spectrum disorder, schizophrenia (44,93) |
| Disrupted in Schizophrenia 1 | DISC1 | Neural migration, neurite outgrowth, and dendritic arborization (94) | Schizophrenia, bipolar disorder, autism, depression (41) |
| Erb-B2 Receptor Tyrosine Kinase 4 | ERBB4 | Role in neurodevelopment such as glial and neuronal migration, myelination, excitatory neuronal receptor expression, and the onset of puberty (47) | Schizophrenia, bipolar disorder (47) |
| Estrogen Receptor 1 | ESR1 | Mediates estrogen effects on synaptogenesis, growth factor production, and responses to oxidative stress (95) | Anxiety, depression, schizophrenia, Alzheimer’s disease (41) |
| Fatty Acid Desaturase 2 | FADS2 | Essential for neurogenesis, neurotransmission, and protection from oxidative stress (46) | Interact with early dietary exposures to influence childhood IQ (46) |
| F-Box and WD Repeat Domain Containing 11 | FBXW11 | Involved in ubiquitination and proteasomal degradation (96) | Autism spectrum disorder (96) |
| FK506-Binding Protein 5 | FKBP5 | Transcriptional regulation of the HPA axis (50) | Depression, PTSD (50) |
| Fragile X Mental Retardation, Autosomal Homolog 1 | FXR1 | Levels of FXR1 are important for parvalbumin interneurons (97) | Schizophrenia, bipolar disorder (98) |
| Insulin-like Growth Factor-Binding Protein 7 | IGFBP7 | Regulation of availability of IGFsa | Learning and memory (99) |
| Integrin Subunit Alpha 6 | ITGA6 | Involved in insulin-like growth factor 1 signaling (80) | Schizophrenia (100) |
| Kinectin 1 | KTN1 | Encodes the protein kinectin, a receptor that allows vesicle binding to kinesin and is involved in organelle transport (59) | ADHD (59) |
| Klotho | KL | Health and survival (43) | Cognition (43) |
| Malic Enzyme 1 | ME1 | Sex-specific gene regulation in the offspring, key regulator of a T2DM-specific gene expression network (101,102) | – |
| Mitogen-Activated Protein Kinase 10 | MAPK10 | Neuronal proliferation, differentiation, migration, and programmed cell deatha | Cognition (103) |
| Nemo-like Kinase | NLK | Positive effector of the noncanonical Wnt signaling pathway and negative regulator of the canonical Wnt/beta-catenin signaling pathwaya | – |
| Neuregulin 1 | NRG1 | Mediate cell-cell interactions in the brain and other organs, neuronal migration and specification, oligodendrocyte differentiation and myelination, regulation of acetylcholine, and expression of GABA receptors (104) | Schizophrenia, bipolar disorder (41) |
| Nuclear Factor of Activated T-Cells, Cytoplasmic 4 | NFATC4 | Hippocampal plasticity, axonal growth, neuronal survival, and apoptosis (105) | Spatial memorya |
| Oxytocin Receptor | OXTR | Receptor for oxytocin (51) | Depression, autism, eating disorder (51) |
| Perilipin 1 | PLIN1 | Regulates droplet formation in lipopolysaccharide-stimulated microglia (106) | – |
| Peroxisome Proliferator-Activated Receptor Gamma | PPARG | Regulator of adipocyte differentiationa | Schizophrenia (107) |
| Phospholipase C, Beta 2 | PLCB2 | Catalyzes the hydrolysis of phosphatidylinositol 4,5-bisphosphatea | Schizophrenia (108) |
| Proteasome Inhibitor Subunit 1 | PSMF1 | Inhibits activation of the 26S proteasome, a multicatalytic proteinase complex that may play a role in developmental axonal pruning and synaptic plasticity (109) | – |
| SMAD Family Member 3 | SMAD3 | Involved in regulating inflammatory responses (110) | Alzheimer’s disease (110), cognition (111) |
| Solute Carrier Family 27 (Fatty Acid Transporter), Member 1 | SLC27A1 | Involved in fatty acid transport across the blood-brain barrier (112) | – |
| Wingless-Type MMTV Integration Site Family, Member 2B | WNT2B | Regulation of cell growth and differentiationa | Bipolar disorder (113) |
| Wingless-Type MMTV Integration Site Family, Member 5A | WNT5A | Essential role in regulating developmental pathways during embryogenesisa | Schizophrenia (114), memory (115) |
ADHD, attention-deficit/hyperactivity disorder; GABA, gamma-aminobutyric acid; HPA, hypothalamic-pituitary-adrenal; IGF, insulin-like growth factor; PTSD, posttraumatic stress disorder; T2DM, type 2 diabetes mellitus.
a
GeneCards (116).