Table 6.
Genomic Variations Associated with Schizophrenia
| Genomic Variation | Brief Description (Persons, n) | References |
|---|---|---|
| Interindividual genomic variations | ||
| CNVs | Aberrations at 4 loci containing genes encoding brain-expressed proteins (n=35) | [112] |
| CNVs | Gain of Xq23 (~50%) and loss of 3q13.12 (~30%) as well as frequent gains/losses in several other chromosomal regions (n=30) | [113] |
| CNVs | Thirteen aberrations, among them 2 were likely to be pathogenic (involving NRXN1 and APBA2 genes; n=93) | [114] |
| CNVs | Gene deletions and duplications in 15% (all the cases) and 20% (only young-onset cases) (n=150) | [115] |
| CNVs | No specific CNVs detected (n=260) | [116] |
| Microdeletion | Microdeletion of 22q11 (~1% in schizophrenia cohorts) | [72] |
| Heteromorphsims of heterochromatic regions | Mainly pericentric inversion of 9qh (9phqh or 9ph) | [64, 108] |
| Structural chromosome abnormalities | The wide spectrum of cytogenetically visible chromosome abnormalities (single case-reports) | [62-64, 107-110] |
| Numerical chromosome abnormalities | Sex chromosome abnormalities (1-4% in schizophrenia cohorts) | [62, 64, 107-109] |
| Intercellular genomic variations | ||
| Fragile sites | Fragile sites on different chromosomes, that were rarely observed in controls | [62, 64, 111] |
| Aneuploidy | Mosaic aneuploidy in blood lymphocytes | [64, 109] |
| Mosaic aneuploidy of chromosomes 1 (2 individuals; ~5% of cells), 18 (2 individuals; 2.5 and 0.5%), X (2 individuals; 4 and 3%) in cells of the schizophrenia brain | [44, 49] | |