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Study Report
| Comment on Study | View All Comments on Study |
Basic Info
| Reference | Thomson, P. A.,2005(a) PMID: 15838535 |
|---|---|
| Citation | Thomson, P. A., N. R. Wray, et al. (2005). Association between the TRAX/DISC locus and both bipolar disorder and schizophrenia in the Scottish population. Mol Psychiatry 10(7): 657-668, 616. |
| Disease Type | Bipolar Disorder & Schizophrenia |
| Study Design | case-control |
| Study Type | Candidate-gene association study |
| Sample Size | 478 control, 394 SCZ and 381 BP (334 BPI;47 BPII) |
| SNP/Region/Marker Size | 30 SNPs |
| Predominant Ethnicity | Caucasian |
| Population | Scottish |
| Gender | 478 control(248 men, 230 women), 394 SCZ (282 men, 112 women) and 381 BP (334 BPI: 149 men, 185 women;47 BPII: 14 men, 33 women) |
Detail Info
| Sample Diagnosis | DSM |
|---|---|
| Sample Status | Subjects were in-patients or outpatients of hospitals in southeast or south central Scotland. Subjects were interviewed by an experienced psychiatrist and a venous blood sample was given for DNA extraction.Whenever possible, participation was also sought from first-degree relatives and blood samples were taken. Diagnoses were made according to DSM-IV criteria based on case note review and personal interview using The Schedule for Affective Disorders and Schizophrenia-lifetime version (SADS-L).Final diagnoses were reached by consensus between two experienced psychiatrists (DB and WM). Control subjects were drawn from the same population in southeast and south central Scotland, and recruited from donors for the Scottish National Blood Transfusion service (395). Although the blood donors were not screened by interview for personal or family history of psychiatric illness, this group was selected to the extent that donors are only accepted if they are not currently on medication and have no chronic illness. The remaining controls (83) were recruited from the local population or from hospital staff, and were briefly screened by interview to exclude anyone currently on medication or with a history of treatment for psychiatric illness. |
| Technique | genotyping |
| Statistical Method | The program UNPHASED was used to analyse the association of disease status with sliding windows of one-, two-, three- and four-SNP haplotypes. |
| Result Summary | Significant association with bipolar disorder in women P=0.00026 (P=0.0016 in men and women combined) was detected in a region of DISC1. This same region also showed nominally significant association with schizophrenia in both men and women combined, P=0.0056. Two further regions, one in TRAX and the second in DISC1, showed weaker evidence for sex-specific associations of individual haplotypes with bipolar disorder in men and women respectively, P<0.01. Only the association between bipolar women and DISC1 remained significant after correction for multiple testing. This result provides further supporting evidence for DISC1 as a susceptibility factor for both bipolar disorder and schizophrenia, consistent with the diagnoses in the original Scottish translocation family. |
Genetic factors reported by this study for BD
| SNP | Related Gene(s) | Allele Change | Risk Allele | Statistical Values | Author Comments | Result Category |
|---|---|---|---|---|---|---|
| rs1954175 | DISC1 TSNAX | Single-Marker Analysis: allele frequency, for BP, P-value = 0.69 | No significant association was observed. No significant association was observed. | Negative | ||
| rs1984895 | DISC1 TSNAX | Single-Marker Analysis: allele frequency, for BP, P-value = 0.64 | No significant association was observed. No significant association was observed. | Negative | ||
| rs2038636 | DISC1 TSNAX | Single-Marker Analysis: allele frequency, for BP, P-value = 0.38 | No significant association was observed. No significant association was observed. | Negative | ||
| rs2492367 | DISC1 TSNAX | Single-Marker Analysis: allele frequency, for BP, P-value = 0.2 | No significant association was observed. No significant association was observed. | Negative | ||
| rs2759346 | DISC1 TSNAX | Single-Marker Analysis: allele frequency, for BP, P-value = 0.69 | No significant association was observed. No significant association was observed. | Negative | ||
| rs2812393 | DISC1 TSNAX | Single-Marker Analysis: allele frequency, for BP, P-value = 0.73 | No significant association was observed. No significant association was observed. | Negative | ||
| rs3738401 | DISC1 TSNAX | Single-Marker Analysis: allele frequency, for BP, P-value = 0.83 | No significant association was observed. No significant association was observed. | Negative | ||
| rs6675281 | DISC1 TSNAX | Single-Marker Analysis: allele frequency, for BP, P-value = 0.25 | No significant association was observed. No significant association was observed. | Negative | ||
| rs1160491 | DISC1 TSNAX | Single-Marker Analysis: allele frequency, for BP, P-value = 0.39 | No significant association was observed. No significant association was observed. | Negative | ||
| rs701158 | DISC1 DISC1-IT1 TSNAX | Single-Marker Analysis: allele frequency, for BP, P-value = 0.47 | No significant association was observed. No significant association was observed. | Negative | ||
| rs12404162 | DISC1 TSNAX | Single-Marker Analysis: allele frequency, for BP, P-value = 0.6 | No significant association was observed. No significant association was observed. | Negative | ||
| rs734551 | DISC1 TSNAX | Single-Marker Analysis: allele frequency, for BP, P-value = 0.085 | No significant association was observed. No significant association was observed. | Negative | ||
| rs1322784 | DISC1 TSNAX | Single-Marker Analysis: allele frequency, for BP, P-value = 0.2 | No significant association was observed. No significant association was observed. | Negative | ||
| rs751229 | DISC1 TSNAX | Single-Marker Analysis: allele frequency, for BP, P-value = 0.28 | No significant association was observed. No significant association was observed. | Negative | ||
| rs766288 | TSNAX DISC1 | Single-Marker Analysis: allele frequency, for BP, P-value = 0.71 | No significant association was observed. No significant association was observed. | Negative | ||
| rs1411771 | DISC1 TSNAX | Single-Marker Analysis: allele frequency, for BP, P-value = 0.89 | No significant association was observed. No significant association was observed. | Negative | ||
| rs821597 | DISC1 TSNAX | Single-Marker Analysis: allele frequency, for BP, P-value = 0.67 | No significant association was observed. No significant association was observed. | Negative | ||
| rs1411776 | DISC1 TSNAX | Single-Marker Analysis: allele frequency, for BP, P-value = 0.92 | No significant association was observed. No significant association was observed. | Negative | ||
| rs821616 | DISC1 TSNAX | Single-Marker Analysis: allele frequency, for BP, P-value = 0.31 | No significant association was observed. No significant association was observed. | Negative | ||
| rs1538977 | DISC1 TSNAX | Single-Marker Analysis: allele frequency, for BP, P-value = 0.49 | No significant association was observed. No significant association was observed. | Negative | ||
| rs821663 | DISC1 TSNAX | Single-Marker Analysis: allele frequency, for BP, P-value = 0.2 | No significant association was observed. No significant association was observed. | Negative | ||
| rs1615409 | TSNAX DISC1 | Single-Marker Analysis: allele frequency, for BP, P-value = 0.77 | No significant association was observed. No significant association was observed. | Negative | ||
| rs999710 | DISC1 TSNAX | Single-Marker Analysis: allele frequency, for BP, P-value = 0.7 | No significant association was observed. No significant association was observed. | Negative | ||
| rs1630250 | TSNAX DISC1 | Single-Marker Analysis: allele frequency, for BP, P-value = 0.79 | No significant association was observed. No significant association was observed. | Negative | ||
| rs1000731 | DISC1 TSNAX | Single-Marker Analysis: allele frequency, for BP, P-value = 0.44 | No significant association was observed. No significant association was observed. | Negative | ||
| rs1000730 | DISC1 TSNAX | Single-Marker Analysis: allele frequency, for BP, P-value = 0.55 | No significant association was observed. No significant association was observed. | Negative | ||
| rs1030711 | TSNAX DISC1 | Single-Marker Analysis: allele frequency, for BP, P-value = 0.032 | Significant association was observed in allelic association. Significant association was observed in allelic association. | Positive | ||
| rs1025526 | LINC00582 TSNAX DISC1 | Single-Marker Analysis: allele frequency, for BP, P-value = 0.056 | No significant association was observed. No significant association was observed. | Negative | ||
| rs11122396 | DISC1 TSNAX | Single-Marker Analysis: allele frequency, for BP, P-value = 0.45 | No significant association was observed. No significant association was observed. | Negative | ||
| rs1094653 | DISC1 TSNAX | Single-Marker Analysis: allele frequency, for BP, P-value = 0.29 | No significant association was observed. No significant association was observed. | Negative |
| Markers | Haplotype | Related Gene(s)/Region(s) | Statistical Values | Author Comments | Result Category |
|---|---|---|---|---|---|
| rs1954175 - rs1538977 - rs2492367 | TSNAX DISC1 | Global association test:for BP, P-value = 0.79(all), 0.3(male), 0.88(female); | No significant association was found . No significant association was found . | Negative | |
| rs1538977 - rs2492367 - rs2812393 - rs1322784 | T-T-G-T | TSNAX DISC1 | Global association test:for BP, P-value = 0.0016(all), 0.75(male), 0.00026(female); | Significant association was found in global P-value. Significant association was found in global P-value. | Positive |
| rs1538977 - rs2492367 - rs2812393 | T-T-G | TSNAX DISC1 | Global association test:for BP, P-value = 0.59(all), 0.93(male), 0.022(female); | No significant association was found . No significant association was found . | Negative |
| rs2492367 - rs2812393 - rs1322784 | C-G-T | TSNAX DISC1 | Global association test:for BP, individual P-value = 0.0063(all), individual P-value = 0.0079(female) | Significant association was found in individual P-value. Significant association was found in individual P-value. | Positive |
| rs2492367 - rs2812393 - rs1322784 | C-C-C | TSNAX DISC1 | Global association test:for BP, P-value = 0.0068(all), 0.28(male), 0.024(female); | Significant association was found in global P-value. Significant association was found in global P-value. | Positive |
| rs1954175 - rs1538977 - rs2492367 - rs2812393 | G-T-T-G | TSNAX DISC1 | Global association test:for BP, P-value = 0.34(all), 0.29(male), 0.15(female); | No significant association was found . No significant association was found . | Negative |
| rs1954175 - rs1538977 - rs2492367 - rs2812393 | A-C-C-G | TSNAX DISC1 | Global association test:for BP, P-value > 0.05(all) | No significant association was found . No significant association was found . | Negative |
| rs2812393 - rs1322784 - rs2759346 - rs6675281 | TSNAX DISC1 | Global association test:for BP, P-value = 0.096(all), 0.12(male), 0.26(female); | No significant association was found . No significant association was found . | Negative | |
| rs2492367 - rs2812393 - rs1322784 - rs2759346 | TSNAX DISC1 | Global association test:for BP, P-value = 0.13(all), 0.2(male), 0.26(female); | No significant association was found . No significant association was found . | Negative | |
| rs2812393 - rs1322784 | C-C | TSNAX DISC1 | Global association test:for BP, P-value = 0.023(all), 0.32(male), 0.034(female); | Significant association was found in global P-value. Significant association was found in global P-value. | Positive |
| Gene | Statistical Values/Author Comments | Result Category |
|---|---|---|
| DISC1 | This result provides further supporting evidence for DISC1 as a susceptibility factor for both bipol...... This result provides further supporting evidence for DISC1 as a susceptibility factor for both bipolar disorder and schizophrenia, consistent with the diagnoses in the original Scottish translocation family. More... | Positive |
Genetic factors reported by this study for SZ and/or MDD
| Disease | SNP | Related Gene(s) | Statistical Values | Description | Result Category |
|---|---|---|---|---|---|
| SZ | rs1538977 | DISC1 TSNAX | Single-Marker Analysis:allele frequency, for SZ, P-value = 0.98 | No significant association was observed. | Negative |
| SZ | rs1411776 | DISC1 TSNAX | Single-Marker Analysis:allele frequency, for SZ, P-value = 0.54 | No significant association was observed. | Negative |
| SZ | rs1630250 | TSNAX DISC1 | Single-Marker Analysis:allele frequency, for SZ, P-value = 0.95 | No significant association was observed. | Negative |
| SZ | rs1615409 | TSNAX DISC1 | Single-Marker Analysis:allele frequency, for SZ, P-value = 0.86 | No significant association was observed. | Negative |
| SZ | rs12404162 | DISC1 TSNAX | Single-Marker Analysis:allele frequency, for SZ, P-value = 0.48 | No significant association was observed. | Negative |
| SZ | rs1160491 | DISC1 TSNAX | Single-Marker Analysis:allele frequency, for SZ, P-value = 0.14 | No significant association was observed. | Negative |
| SZ | rs1411771 | DISC1 TSNAX | Single-Marker Analysis:allele frequency, for SZ, P-value = 0.9 | No significant association was observed. | Negative |
| SZ | rs1322784 | DISC1 TSNAX | Single-Marker Analysis:allele frequency, for SZ, P-value = 0.56 | No significant association was observed. | Negative |
| SZ | rs1030711 | TSNAX DISC1 | Single-Marker Analysis:allele frequency, for SZ, P-value = 0.91 | No significant association was observed. | Negative |
| SZ | rs1025526 | LINC00582 TSNAX DISC1 | Single-Marker Analysis:allele frequency, for SZ, P-value = 0.86 | No significant association was observed. | Negative |
| SZ | rs11122396 | DISC1 TSNAX | Single-Marker Analysis:allele frequency, for SZ, P-value = 0.51 | No significant association was observed. | Negative |
| SZ | rs1094653 | DISC1 TSNAX | Single-Marker Analysis:allele frequency, for SZ, P-value = 0.45 | No significant association was observed. | Negative |
| SZ | rs1000731 | DISC1 TSNAX | Single-Marker Analysis:allele frequency, for SZ, P-value = 0.96 | No significant association was observed. | Negative |
| SZ | rs1000730 | DISC1 TSNAX | Single-Marker Analysis:allele frequency, for SZ, P-value = 0.82 | No significant association was observed. | Negative |
| SZ | rs821597 | DISC1 TSNAX | Single-Marker Analysis:allele frequency, for SZ, P-value = 0.16 | No significant association was observed. | Negative |
| SZ | rs821616 | DISC1 TSNAX | Single-Marker Analysis:allele frequency, for SZ, P-value = 0.5 | No significant association was observed. | Negative |
| SZ | rs821663 | DISC1 TSNAX | Single-Marker Analysis:allele frequency, for SZ, P-value = 0.12 | No significant association was observed. | Negative |
| SZ | rs999710 | DISC1 TSNAX | Single-Marker Analysis:allele frequency, for SZ, P-value = 0.47 | No significant association was observed. | Negative |
| SZ | rs701158 | DISC1 DISC1-IT1 TSNAX | Single-Marker Analysis:allele frequency, for SZ, P-value = 0.68 | No significant association was observed. | Negative |
| SZ | rs734551 | DISC1 TSNAX | Single-Marker Analysis:allele frequency, for SZ, P-value = 0.89 | No significant association was observed. | Negative |
| SZ | rs751229 | DISC1 TSNAX | Single-Marker Analysis:allele frequency, for SZ, P-value = 0.25 | No significant association was observed. | Negative |
| SZ | rs766288 | TSNAX DISC1 | Single-Marker Analysis:allele frequency, for SZ, P-value = 0.72 | No significant association was observed. | Negative |
| SZ | rs2759346 | DISC1 TSNAX | Single-Marker Analysis:allele frequency, for SZ, P-value = 0.83 | No significant association was observed. | Negative |
| SZ | rs2812393 | DISC1 TSNAX | Single-Marker Analysis:allele frequency, for SZ, P-value = 0.6 | No significant association was observed. | Negative |
| SZ | rs3738401 | DISC1 TSNAX | Single-Marker Analysis:allele frequency, for SZ, P-value = 0.15 | No significant association was observed. | Negative |
| SZ | rs6675281 | DISC1 TSNAX | Single-Marker Analysis:allele frequency, for SZ, P-value = 0.57 | No significant association was observed. | Negative |
| SZ | rs1954175 | DISC1 TSNAX | Single-Marker Analysis:allele frequency, for SZ, P-value = 0.093 | No significant association was observed. | Negative |
| SZ | rs1984895 | DISC1 TSNAX | Single-Marker Analysis:allele frequency, for SZ, P-value = 0.95 | No significant association was observed. | Negative |
| SZ | rs2038636 | DISC1 TSNAX | Single-Marker Analysis:allele frequency, for SZ, P-value = 0.83 | No significant association was observed. | Negative |
| SZ | rs2492367 | DISC1 TSNAX | Single-Marker Analysis:allele frequency, for SZ, P-value = 0.5 | No significant association was observed. | Negative |
| Disease | Markers | Haplotype | Related Gene(s)/Region(s) | Statistical Values | Description | Result Category |
|---|---|---|---|---|---|---|
| SZ | rs1538977 - rs2492367 - rs2812393 | T-T-G | TSNAX DISC1 | Global association test:for SCZ, P-value = 0.039(all), 0.48(male), 0.1(female); individual P-value = 0.0062(all) | Significant association was found in both global P-value and individual P-value. | Positive |
| SZ | rs1954175 - rs1538977 - rs2492367 - rs2812393 | A-C-C-G | TSNAX DISC1 | Global association test:for SCZ, individual P-value = 0.00048(male) | Significant association was found in individual P-value. | Positive |
| SZ | rs1954175 - rs1538977 - rs2492367 - rs2812393 | G-T-T-G | TSNAX DISC1 | Global association test:for SCZ, P-value = 0.0064(all), 0.0046(male), 0.31(female); individual P-value = 0.005(all) | Significant association was found in both global P-value and individual P-value. | Positive |
| SZ | rs1538977 - rs2492367 - rs2812393 - rs1322784 | T-T-G-T | TSNAX DISC1 | Global association test:for SCZ, P-value = 0.0056(all), 0.84(male), 0.032(female); individual P-value = 0.0075(all) | Significant association was found in both global P-value and individual P-value. | Positive |
| SZ | rs1954175 - rs1538977 - rs2492367 | TSNAX DISC1 | Global association test:for SCZ, P-value = 0.19(all), 0.037(male), 0.81(female); | No significant associations were found in SZ. | Negative | |
| SZ | rs2492367 - rs2812393 - rs1322784 - rs2759346 | TSNAX DISC1 | Global association test:for SCZ, P-value = 0.043(all), 0.24(male), 0.0074(female); | Significant association was found in global P-value. | Positive | |
| SZ | rs2812393 - rs1322784 | C-C | TSNAX DISC1 | Global association test:for SCZ, P-value = 0.0044(all), 0.21(male), 0.018(female); individual P-value = 0.0036(all) | Significant association was found in global P-value. | Positive |
| SZ | rs2492367 - rs2812393 - rs1322784 | C-C-C | TSNAX DISC1 | Global association test:for SCZ, P-value = 0.0079(all), 0.32(male), 0.021(female); individual P-value = 0.0044(all) | Significant association was found in both global P-value and individual P-value. | Positive |
| SZ | rs2492367 - rs2812393 - rs1322784 | C-G-T | TSNAX DISC1 | Global association test:for SCZ, P-value > 0.05(all) | No significant associations were found in SZ. | Negative |
| SZ | rs2812393 - rs1322784 - rs2759346 - rs6675281 | TSNAX DISC1 | Global association test:for SCZ, P-value = 0.15(all), 0.84(male), 0.04(female); | No significant associations were found in SZ. | Negative |
| Disease | Gene | Description | Result Category |
|---|---|---|---|
| SZ | TSNAX | Positive | |
| SZ | DISC1 | This result provides further supporting evidence for DISC1 as a susceptibility factor for both bipolar disorder and schizophrenia, consistent with the diagnoses in the original Scottish translocation family. | Positive |
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Last update: March 31, 2016