
Search SNP
Search Gene
Search CNV
Search Haplotype
Search Other Variant
Search Region
Search Pathway
Search Study
Study Report
Comment on Study | View All Comments on Study |
Reference | Palo, O. M., 2007 PMID: 17673452 |
---|---|
Citation | Palo, O. M., M. Antila, et al. (2007). "Association of distinct allelic haplotypes of DISC1 with psychotic and bipolar spectrum disorders and with underlying cognitive impairments." Hum Mol Genet 16(20): 2517-2528. |
Disease Type | Bipolar Disorder |
Study Design | case-control and family-based |
Study Type | Candidate-gene association study |
Sample Size | 723 individuals from 175 nuclear families and from four extended families and 57 trios as a control sample in the molecular genetic analyses |
SNP/Region/Marker Size | 13 SNPs |
Predominant Ethnicity | Caucasian |
Population | Finnish |
Gender | 118 males and 109 females in the group of patients with Bipolar spectrum disorder, 101 males and 70 females in the control group |
Sample Diagnosis | Structural Clinical Interview for DSM-IV Axis I Disorders (SCID) |
---|---|
Sample Status | All individuals born between 1940 and 1969 and hospitalized with a diagnosis of BPD were identified from the Finnish National Hospital Discharge Register. The study sample comprised a group of patients with bipolar spectrum disorders, i.e. BPD type I and II, NOS and cyclothymia, including BPD type I (n=214), II (n=5), NOS (n= 6) and cyclothymia (n=2), and a group of patients with psychotic disorders, i.e. BPD type I with intermittent psychotic features, psychotic depression, SCZ, SA disorder and psychosis NOS (n=251), with an overlap of 162 individuals belonging to both groups. |
Technique | genotyping using the homogenous Mass Extension reaction on the Sequenom MassARRAY System |
Statistical Method | Single-marker association analysis was conducted using the Pseudomarker program; Haplotype analysis was performed using the TRANSMIT 2.5.4. program. |
Result Summary | Consistent with an earlier finding in Finnish SCZ families, the haplotype T-A of rs751229 and rs3738401 at the 5' end of DISC1 was over-transmitted to males with psychotic disorder (P=0.008; for an extended haplotype P=0.0007 with both genders). Haplotypes at the 3' end of DISC1 associated with bipolar spectrum disorder (P=0.0002 for an under-transmitted haplotype T-T of rs821616 and rs1411771, for an extended haplotype P=0.0001), as did a two-SNP risk haplotype at the 5' end of TSNAX (P=0.007). The risk haplotype for psychotic disorder also associated to perseverations (P=0.035; for rs751229 alone P=0.0012), and a protective haplotype G-T-G with rs1655285 in addition to auditory attention (P=0.0059). The 3' end variants associated with several cognitive traits, with the most robust signal for rs821616 and verbal fluency and rs980989 and psychomotor processing speed (P=0.011 for both). These results support involvement of DISC1 in the genetic aetiology of BPD and suggest that its distinct variants contribute to variation in the dimensional features of psychotic and bipolar spectrum disorders. |
SNP | Related Gene(s) | Allele Change | Risk Allele | Statistical Values | Author Comments | Result Category |
---|---|---|---|---|---|---|
rs1655285 | TSNAX | G/C | P-value = 0.025 in all patients, P-value = 0.708 in males, P-value = 0.088 in females, with bipolar spectrum disorder | observed weak evidence for association of rs1655285 at intro...... observed weak evidence for association of rs1655285 at intron 5 of TSNAX with bipolar spectrum disorder More... | Positive | |
rs3738401 | DISC1 TSNAX | G/A | P-value = 0.888 in all patients, P-value = 0.281 in males, P-value = 0.862 in females, with bipolar spectrum disorder | With psychotic disorder as an outcome, the analysis of indiv...... With psychotic disorder as an outcome, the analysis of individual SNPs in the complete sample provided only evidence of a trend for an association with rs3738401 in exon 2 (P=0.051, Pseudomarker). More... | Negative | |
rs6675281 | DISC1 TSNAX | C/T | P-value = 0.48 in all patients, P-value = 0.522 in males, P-value = 0.292 in females, with bipolar spectrum disorder | Negative | ||
rs751229 | DISC1 TSNAX | T/C | P-value = 0.777 in all patients, P-value = 0.718 in males, P-value = 0.61 in females, with bipolar spectrum disorder | Negative | ||
rs821616 | DISC1 TSNAX | A/T | P-value = 0.218 in all patients, P-value = 0.256 in males, P-value = 0.221 in females, with bipolar spectrum disorder | Negative | ||
rs967244 | DISC1 | A/G | P-value = 0.204 in all patients, P-value = 0.764 in males, P-value = 0.26 in females, with bipolar spectrum disorder | Negative | ||
rs980989 | DISC1 | G/T | P-value = 0.708 in all patients, P-value = 0.315 in males, P-value = 0.791 in females, with bipolar spectrum disorder | Negative | ||
rs1322784 | DISC1 TSNAX | A/G | P-value = 0.139 in all patients, P-value = 0.92 in males, P-value = 0.332 in females, with bipolar spectrum disorder | Negative | ||
rs1000731 | DISC1 TSNAX | C/T | P-value = 0.475 in all patients, P-value = 0.16 in males, P-value = 0.115 in females, with bipolar spectrum disorder | Negative | ||
rs1538977 | DISC1 TSNAX | A/G | P-value = 0.718 in all patients, P-value = 0.058 in males, P-value = 0.862 in females, with bipolar spectrum disorder | Negative | ||
rs1411771 | DISC1 TSNAX | T/C | P-value = 0.406 in all patients, P-value = 0.296 in males, P-value = 1 in females, with bipolar spectrum disorder | Negative | ||
rs1630250 | TSNAX DISC1 | G/C | P-value = 0.632 in all patients, P-value = 0.572 in males, P-value = 0.104 in females, with bipolar spectrum disorder | Negative | ||
rs1615409 | TSNAX DISC1 | C/A | P-value = 0.74 in all patients, P-value = 1 in males, P-value = 0.233 in females, with bipolar spectrum disorder | Negative |
Markers | Haplotype | Related Gene(s)/Region(s) | Statistical Values | Author Comments | Result Category |
---|---|---|---|---|---|
rs1322784 - rs967244 | A-G | DISC1 | Individual P-value = 0.517 in all, P-value = 0.966 in males, P-value = 0.243 in females; global P-value = 0.849 in all, P-value = 0.819 in males, P-value = 0.338 in females, with bipolar spectrum disorder | Negative | |
rs1000731 - rs821616 - rs1411771 | C-T-T | DISC1 | Individual P-value = 0.009 in all, P-value = 0.045 in males, P-value = 0.135 in females; global P-value = 0.051 in all, P-value = 0.345 in males, P-value = 0.295 in females, with bipolar spectrum disorder | Positive | |
rs1000731 - rs821616 | C-T | DISC1 | Individual P-value = 0.043 in all, P-value = 0.157 in males, P-value = 0.237 in females; global P-value = 0.025 in all, P-value = 0.208 in males, P-value = 0.218 in females, with bipolar spectrum disorder | Positive | |
rs6675281 - rs1000731 | T-C | DISC1 | Individual P-value = 0.417 in all, P-value = 0.569 in males, P-value = 0.662 in females; global P-value = 0.274 in all, P-value = 0.727 in males, P-value = 0.321 in females, with bipolar spectrum disorder | Negative | |
rs3738401 - rs1538977 | A-A | DISC1 | Individual P-value = 0.17 in all, P-value = 0.347 in males, P-value = 0.324 in females; global P-value = 0.426 in all, P-value = 0.254 in males, P-value = 0.749 in females, with bipolar spectrum disorder | Negative | |
rs1538977 - rs1322784 | A-A | DISC1 | Individual P-value = 0.622 in all, P-value = 0.952 in males, P-value = 0.363 in females; global P-value = 0.683 in all, P-value = 0.689 in males, P-value = 0.757 in females, with bipolar spectrum disorder | Negative | |
rs1411771 - rs980989 | T-G | DISC1 | Individual P-value = 0.269 in all, P-value = 0.85 in males, P-value = 0.185 in females; global P-value = 0.429 in all, P-value = 0.631 in males, P-value = 0.43 in females, with bipolar spectrum disorder | Negative | |
rs1655285 - rs751229 - rs3738401 | G-T-A | TSNAX DISC1 | Individual P-value = 0.261 in all, P-value = 0.039 in males, P-value = 0.965 in females; global P-value = 0.42 in all, P-value = 0.183 in males, P-value = 0.426 in females, with bipolar spectrum disorder | Positive | |
rs1615409 - rs1655285 - rs751229 | C-G-T | TSNAX DISC1 | Individual P-value = 0.085 in all, P-value = 0.234 in males, P-value = 0.204 in females; global P-value = 0.114 in all, P-value = 0.287 in males, P-value = 0.106 in females, with bipolar spectrum disorder | Negative | |
rs1655285 - rs751229 | G-T | TSNAX DISC1 | Individual P-value = 0.399 in all, P-value = 0.704 in males, P-value = 0.418 in females; global P-value = 0.188 in all, P-value = 0.427 in males, P-value = 0.047 in females, with bipolar spectrum disorder | Positive | |
rs821616 - rs1411771 | T-T | DISC1 | Individual P-value = 0.0002 in all, P-value = 0.011 in males, P-value = 0.016 in females; global P-value = 0.004 in all, P-value = 0.07 in males, P-value = 0.092 in females, with bipolar spectrum disorder | the haplotype at the 3' end of DISC1, composed of SNPs rs821...... the haplotype at the 3' end of DISC1, composed of SNPs rs821616 and rs1411771, was under-transmitted to affected females and males More... | Positive |
rs821616 - rs1411771 - rs980989 | T-T-G | DISC1 | Individual P-value = 0.0001 in all, P-value = 0.005 in males, P-value = 0.021 in females; global P-value = 0.021 in all, P-value = 0.115 in males, P-value = 0.214 in females, with bipolar spectrum disorder | An extended allelic haplotype including rs821616, rs1411771 ...... An extended allelic haplotype including rs821616, rs1411771 and in addition rs980898, was also under-transmitted to affected males and females More... | Positive |
rs6675281 - rs1000731 - rs821616 | T-C-T | DISC1 | Individual P-value = 0.022 in all, P-value = 0.105 in males, P-value = 0.59 in females; global P-value = 0.033 in all, P-value = 0.201 in males, P-value = 0.486 in females, with bipolar spectrum disorder | Positive | |
rs751229 - rs3738401 | T-A | DISC1 | Individual P-value = 0.159 in all, P-value = 0.146 in males, P-value = 0.682 in females; global P-value = 0.274 in all, P-value = 0.563 in males, P-value = 0.404 in females, with bipolar spectrum disorder | Negative | |
rs1630250 - rs1615409 | G-C | TSNAX | Individual P-value = 0.007 in all, P-value = 0.052 in males, P-value = 0.098 in females; global P-value = 0.007 in all, P-value = 0.052 in males, P-value = 0.097 in females, with bipolar spectrum disorder | a major haplotype containing rs1630250 and rs1615409 within ...... a major haplotype containing rs1630250 and rs1615409 within the TSNAX gene was over-transmitted to affected females and males More... | Positive |
rs1630250 - rs1615409 - rs1655285 | G-C-G | TSNAX | Individual P-value = 0.065 in all, P-value = 0.153 in males, P-value = 0.286 in females; global P-value = 0.089 in all, P-value = 0.11 in males, P-value = 0.378 in females, with bipolar spectrum disorder | Negative | |
rs967244 - rs6675281 | G-T | DISC1 | Individual P-value = 0.278 in all, P-value = 0.329 in males, P-value = 0.462 in females; global P-value = 0.576 in all, P-value = 0.449 in males, P-value = 0.673 in females, with bipolar spectrum disorder | Negative | |
rs1615409 - rs1655285 | C-G | TSNAX | Individual P-value = 0.078 in all, P-value = 0.201 in males, P-value = 0.248 in females; global P-value = 0.102 in all, P-value = 0.162 in males, P-value = 0.361 in females, with bipolar spectrum disorder | Negative |
Gene | Statistical Values/Author Comments | Result Category |
---|---|---|
DISC1 | The results provide evidence for an association of distinct allelic variants of DISC1 to psychotic a...... The results provide evidence for an association of distinct allelic variants of DISC1 to psychotic and bipolar spectrum disorders. More... | Positive |
TSNAX | The results provide evidence for an association of distinct allelic variants of TSNAX to psychotic a...... The results provide evidence for an association of distinct allelic variants of TSNAX to psychotic and bipolar spectrum disorders More... | Positive |
Gene Group | Markers | Statistical Values | Author Comments | Result Category |
---|---|---|---|---|
TSNAX DISC1 | rs1655285 - rs751229; rs1615409 - rs1655285 - rs751229; rs1655285 - rs751229 - rs3738401 | Haplotype cross these two genes were tested. For haplotype "rs1655285-rs751229(G-T)": Individual P-value = 0.399 in all, P-value = 0.704 in males, P-value = 0.418 in females; global P-value = 0.188 in all, P-value = 0.427 in males, P-value = 0.047 in females, with bipolar spectrum disorder; For haplotype "rs1615409 - rs1655285 - rs751229(C-G-T)": Individual P-value = 0.085 in all, P-value = 0.234 in males, P-value = 0.204 in females; global P-value = 0.114 in all, P-value = 0.287 in males, P-value = 0.106 in females, with bipolar spectrum disorder; For haplotype "rs1655285 - rs751229 - rs3738401(G-T-A)": Individual P-value = 0.261 in all, P-value = 0.039 in males, P-value = 0.965 in females; global P-value = 0.42 in all, P-value = 0.183 in males, P-value = 0.426 in females, with bipolar spectrum disorder. | Significant association were found in rs1655285-rs751229 an...... Significant association were found in rs1655285-rs751229 and rs1655285-rs751229-rs3738401. More... | Positive |
Copyright: Bioinformatics Lab, Institute of Psychology, Chinese Academy of Sciences Feedback
Acknowledgements
To view this website normally, please make sure to allow Flash to run from the local filesystem in the security settings panel.
Last update: March 31, 2016