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Study Report
| Comment on Study | View All Comments on Study |
Basic Info
| Reference | Fanous, A. H.,2012 PMID: 22461138 |
|---|---|
| Citation | Fanous, A. H., F. A. Middleton, et al. (2012). "Genetic overlap of schizophrenia and bipolar disorder in a high-density linkage survey in the Portuguese Island population." Am J Med Genet B Neuropsychiatr Genet 159B(4): 383-391. |
| Disease Type | Bipolar Disorder & Schizophrenia |
| Study Design | pedigree |
| Study Type | Genome-wide Linkage Study |
| Sample Size | 52 BD, 44 SZ, and 90 PSY total genotyped sibling pairs, respectively,from 47 families |
| SNP/Region/Marker Size | 58,624 SNPs |
| Predominant Ethnicity | |
| Population | American |
Detail Info
| Sample Diagnosis | DSM |
|---|---|
| Sample Status | Full details of subject ascertainment and assessment have been presented in detail elsewhere [Sklar et al., 2004].We used three definitions of affection: SZ (including schizophrenia and schizoaffective disorder, depressed type), BP, and PSY (adding bipolar disorder with psychotic features to the SZ definition). These three definitions included 52, 44, and 90 total genotyped sibling pairs, respectively,from 47 families. Distributions of genotypes siblings were as follows. There were 27 families with BP sibpairs only; of these, 22 had 2 affected siblings, 4 had 3 affected siblings, and one had 4 affected siblings. There were 19 families with SZ sibpairs only; of these, 12 had 2 affected siblings, 4 had 3 affected siblings, 2 had 4 affected siblings, and one had 6 affected siblings. Six BP families had siblings with psychotic BP. These were added to the SZ families for the PSY phenotype, which included 25 families with 2 affected siblings, 11 with 3, 3 with 4, and one with 6. One family had 3BP and 2 SZ siblings. Fewer SZ families were included in this study compared to our previous scan, due to budgetary constraints,which could have reduced the power to detect linkage. |
| Technique | Genotyping by GeneChip Human Mapping Xba array 240 |
| Statistical Method | We employed autosomal genome-wide multipoint nonparametric linkage analysis in Merlin. |
| Result Summary | For all three phenotypes, a number of regions previously linked in this sample remained so. For BP, chromosome 1p36 achieved significance (11.54-15.71 MB, LOD = 3.51), whereas it was not even suggestively linked at lower marker densities, as did chromosome 11q14.1 (89.32-90.15 MB, NPL = 4.15). Four chromosomes had loci at which both SZ and BP had NPL >/= 1.98, which was more than would be expected by chance (empirical P = 0.01 using simulated SZ scans; 0.07 using simulated BP scans), although they did not necessarily meet criteria for suggestive linkage individually. These results suggest that high-density marker maps may provide greater power and precision in linkage studies than lower density maps. They also further support the hypothesis that SZ and BP share at least some risk alleles. |
Genetic factors reported by this study for BD
| Region | Statistical Values | Author Comments | Result Category |
|---|---|---|---|
| 5q32-5q33.3 | Linkage analysis: Maximum NPL (nearest maximum LOD) = 1.64 | No significant linkage was found in this region. No significant linkage was found in this region. | Negative |
| 6q14.1 | Linkage analysis: Maximum NPL (nearest maximum LOD) = 3.17(2.01) | Suggestive linkage was found in this region. Suggestive linkage was found in this region. | Trend |
| 6q21 | Linkage analysis: Maximum NPL (nearest maximum LOD) = 3.1(1.74) | No significant linkage was found in this region. No significant linkage was found in this region. | Negative |
| 6q22.1-6q22.33 | Linkage analysis: Maximum NPL (nearest maximum LOD) = 3.01(1.51) | No significant linkage was found in this region. No significant linkage was found in this region. | Negative |
| 2p14-2p13.2 | Linkage analysis: Maximum NPL (nearest maximum LOD) = 3.28(2.49) | Suggestive linkage was found in this region. Suggestive linkage was found in this region. | Trend |
| 2p16.1 | Linkage analysis: Maximum NPL (nearest maximum LOD) = 3.31(2.08) | Suggestive linkage was found in this region. Suggestive linkage was found in this region. | Trend |
| 3q26.1-3q26.2 | Linkage analysis: Maximum NPL (nearest maximum LOD) = 0.92(0.21) | No significant linkage was found in this region. No significant linkage was found in this region. | Negative |
| 5q32 | Linkage analysis: Maximum NPL (nearest maximum LOD) = -1.04 | No significant linkage was found in this region. No significant linkage was found in this region. | Negative |
| 11q14.3-11q21 | Linkage analysis: Maximum NPL (nearest maximum LOD) = 3.08(2.24) | Suggestive linkage was found in this region. Suggestive linkage was found in this region. | Trend |
| 16q23.3 | Linkage analysis: Maximum NPL (nearest maximum LOD) = 3.81(2.64) | Suggestive linkage was found in this region. Suggestive linkage was found in this region. | Trend |
| 1p13.2-1q21.3 | Linkage analysis: Maximum NPL (nearest maximum LOD) = 3.96(3.51) | Significant linkage was found in this region. Significant linkage was found in this region. | Positive |
| 20p12.1 | Linkage analysis: Maximum NPL (nearest maximum LOD) = 3.75(2.24) | Suggestive linkage was found in this region. Suggestive linkage was found in this region. | Trend |
| 11q14.1 | Linkage analysis: Maximum NPL (nearest maximum LOD) = 4.15(3.44) | Significant linkage was found in this region. Significant linkage was found in this region. | Positive |
Genetic factors reported by this study for SZ and/or MDD
| Disease | Region Name | Statistical Values | Description | Result Category |
|---|---|---|---|---|
| SZ | 2p16.1 | Linkage analysis: Maximum NPL (nearest maximum LOD) = -0.64 | No significant linkage was found in this region. | Negative |
| SZ | 3q26.1-3q26.2 | Linkage analysis: Maximum NPL (nearest maximum LOD) = 3.17(1.52) | No significant linkage was found in this region. | Negative |
| SZ | 20p12.1 | Linkage analysis: Maximum NPL (nearest maximum LOD) = 0.73 | No significant linkage was found in this region. | Negative |
| SZ | 2p14-2p13.2 | Linkage analysis: Maximum NPL (nearest maximum LOD) = -0.57 | No significant linkage was found in this region. | Negative |
| SZ | 6q14.1 | Linkage analysis: Maximum NPL (nearest maximum LOD) = 2.24 | No significant linkage was found in this region. | Negative |
| SZ | 6q21 | Linkage analysis: Maximum NPL (nearest maximum LOD) = 3.15(2.28) | No significant linkage was found in this region. | Negative |
| SZ | 5q32 | Linkage analysis: Maximum NPL (nearest maximum LOD) = 3.18(3.08) | Suggestive linkage was found in this region. | Trend |
| SZ | 5q32-5q33.3 | Linkage analysis: Maximum NPL (nearest maximum LOD) = 3.18(2.29) | Suggestive linkage was found in this region. | Trend |
| SZ | 6q22.1-6q22.33 | Linkage analysis: Maximum NPL (nearest maximum LOD) = -0.47 | No significant linkage was found in this region. | Negative |
| SZ | 11q14.3-11q21 | Linkage analysis: Maximum NPL (nearest maximum LOD) = 1.26 | No significant linkage was found in this region. | Negative |
| SZ | 11q14.1 | Linkage analysis: Maximum NPL (nearest maximum LOD) = 0.58 | No significant linkage was found in this region. | Negative |
| SZ | 1p13.2-1q21.3 | Linkage analysis: Maximum NPL (nearest maximum LOD) = -0.37 | No significant linkage was found in this region. | Negative |
| SZ | 16q23.3 | Linkage analysis: Maximum NPL (nearest maximum LOD) = -0.33 | No significant linkage was found in this region. | Negative |
Copyright: Bioinformatics Lab, Institute of Psychology, Chinese Academy of Sciences Feedback
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Last update: March 31, 2016