Table 1.
Studies investigating genetic links between the DISC locus or the adjacent TSNAX locus and major mental illness, an endophenotype thereof or, in one study, chronic fatigue syndrome published since those reviewed by Chubb et al. (2008). SNPs bracketed together indicate haplotypes. SNPs separated by a hyphen (−) indicate significance when alleles are considered together, but not independently.
| Study | Sample | Condition/phenotype | SNP, haplotype, marker or variant | Notes |
|---|---|---|---|---|
| Positive genetic association studies | ||||
| Palo et al. (2007) | Finnish families | Psychotic disorders | (rs1655285, rs751229) | Males only |
| (rs751229, rs3738401) | Males only | |||
| (rs751229, rs3738401, rs1538977) | Males only, principally those without bipolar spectrum disorder | |||
| (rs1655285, rs751229, rs3738401) | Males only, principally those with bipolar spectrum disorder | |||
| Bipolar spectrum disorders | rs1655285 | |||
| (rs1630250, rs1615409) | Principally those without psychotic disorder | |||
| (rs1655285, rs751229) | Females only | |||
| (rs1000731, rs821616) | ||||
| (rs821616, rs1411771) | ||||
| (rs821616, rs1411771, rs980898) | ||||
| Finnish families with bipolar disorder | General intellectual functioning | rs1615409 | Significant by two measures | |
| rs821616 | Significant by one measure | |||
| rs980989 | Significant by three measures | |||
| Attention/working memory | rs980989 | Significant by three measures | ||
| Verbal learning | rs751229 | Significant by two measures | ||
| rs1322784 | Significant by one measure | |||
| rs1000731 | Significant by one measure | |||
| rs980989 | Significant by two measures | |||
| Executive functions | rs821616 | Significant by one measure | ||
| Kilpinen et al. (2008) | Finnish families | Autism | D1S2709 | |
| Asperger’s syndrome | rs1322784 | Males only | ||
| (rs751229, rs3738401) | ||||
| (rs751229, rs3738401, rs1322784) | Males only | |||
| Kim et al. (2008a) | Korean | Schizophrenia with poor concentration | rs821616 | |
| Perlis et al. (2008) | American trios | Bipolar disorder | (rs10495308, rs2793091, rs2793085) | |
| Saetre et al. (2008) | Danish | Schizophrenia | rs3737597 | |
| Norwegian | Schizophrenia | rs3737597 | ||
| Swedish | Schizophrenia | rs3737597 | ||
| Hennah et al. (2009) | Finnish | Bipolar disorder | rs1538979 | Males only |
| English | Bipolar disorder | rs821577 | Females only | |
| British/Finnish | Schizophrenia | rs821633-rs1538979 | Females only. | |
| Rastogi et al. (2009) | Canadian families | Schizophrenia | (rs11122359, rs701158) | |
| (rs6675281, rs11122359) | ||||
| (rs701158, rs821597) | ||||
| Schumacher et al. (2009) | German | Schizophrenia and early onset schizophrenia | rs1015101 | Females only. |
| rs999710 | Females only. | |||
| rs4333837 | Females only. | |||
| Schizophrenia | 18x haplotyes | 5 in males only, 11 in females only | ||
| rs1538979 | Significant in males when stratified on rs821633 allele | |||
| Tomppo et al. (2009b) | Finnish | Social anhedonia | rs821577 | |
| rs11122381 | Females only. | |||
| rs821592 | Females only. | |||
| rs821633 | Significant when stratified on rs1538979 and rs821577 alleles | |||
| Fukuda et al. (2010) | Japanese | Chronic fatigue syndrome | rs821616 | Females only. |
| Harris et al. (2010) | Scottish, elderly | Anxiety scores | rs821577 | Lower in males, higher in females |
| rs821633 | Lower in males, higher in females | |||
| Depression scores | rs821577 | Females only | ||
| rs821633 | Females only | |||
| Emotional stability scores | rs821577 | Females only | ||
| rs821633 | Females only | |||
| Neuroticism scores | rs821577 | Females only | ||
| rs821633 | Females only | |||
| Lepagnol-Bestel et al. (2010) | French trios | Schizophrenia | rs6675281 | |
| Negative symptom scores | rs6675281 | |||
| Algerian trios | Schizophrenia | rs821616 | ||
| Negative symptom scores | rs6675281 | |||
| Mouaffak et al. (2010) | French | Ultra-resistant schizophrenia | rs3738401 | |
| Nicodemus et al. (2010) | American | Schizophrenia | rs10744743-rs1411771 | rs10744743 is an SNP in the CIT gene |
| Okuda et al. (2010) | Japanese | Major depressive disorder | rs766288 | Females only |
| Schosser et al. (2010) | English | Bipolar disorder | rs2492367 | |
| rs7546310 | ||||
| (rs7546310, rs821597) | ||||
| (rs766288, rs2492367) | ||||
| (rs1000731, rs7546310) | ||||
| British | Major depressive disorder | (rs7546310, rs821597) | ||
| Meta-analysis of association studies | ||||
| Schumacher et al. (2009) | European | Schizophrenia | rs17817356 | |
| Negative association studies | ||||
| Arai et al. (2007) | Japanese | Bipolar disorder | Negative | |
| Major depressive disorder | Negative | |||
| Sanders et al. (2008) | European ancesrtry | Schizophrenia | Negative | |
| Lim et al. (2009) | Korean | Autism spectrum disorders | ||
| Houlihan et al. (2009) | Scottish, elderly | Cognitive traits | Negative | |
| Okuda et al. (2010) | Japanese | Bipolar disorder | Negative | |
| Ultra-rare variants | ||||
| Song et al. (2008) | Single patients | Schizophrenia | Point mutations: G14A, R37 W, S90L, R418H, T603I | Not in 10,000 + sequenced controls. S90L seen in two patients |
| Crepel et al. (2010) | Two brothers | Autism | 2 Mb duplication including DISC locus | Not in 1577 controls |
| Williams et al. (2009) | Single patient | Autism spectrum disorder | 2 Mb deletion including TSNAX/DISC locus | |
| Song et al. (2010) | Single patients | Bipolar disorder | Point mutations: S209R R338Q, R418H, T754S | Not in 10,000 + sequenced controls |