Study Report
Basic Info
| Reference |
Shaw, S. H.,2003 PMID: 12808435
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| Citation |
Shaw, S. H., Z. Mroczkowski-Parker, et al. (2003). "Linkage of a bipolar disorder susceptibility locus to human chromosome 13q32 in a new pedigree series." Mol Psychiatry 8(5): 558-564.
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| Disease Type |
Bipolar Disorder |
| Study Design |
pedigree |
| Study Type |
Candidate-region linkage study |
| Sample Size |
32 families with 194 subjects |
| SNP/Region/Marker Size |
12 microsatellite markers spanning over 50cM from 13q22 to 13q34 |
| Predominant Ethnicity |
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| Population |
American |
Detail Info
| Sample Diagnosis |
DSM |
| Sample Status |
Families were ascertained from the general North American population through both a systematic survey of clinical facilities and through advertising and patient support groups from three sites: San Diego, Vancouver and Cincinnati. Families were ascertained through a proband with BP I or II disorder, and included if at least two additional members had either BP disorder or recurrent major depression. The family sample included 32 families and 194 subjects. A total of 43 subjects had a diagnosis of BP I or schizoaffective bipolar type, 26 had BP II, and 49 had recurrent major depression. There was an average of 6 subjects per family, and 2 and 3.7 affected members per family under the narrow and broad diagnostic category, respectively. |
| Replication Size |
52 pedigrees |
| Technique |
genotyping |
| Statistical Method |
For parametric linkage analysis, genetic data were analyzed using the program MLINK of FASTLINK.Two-point and multipoint nonparametric allele sharing tests among affected relatives were done using MERLIN. |
| Result Summary |
In this sample, we have replicated the linkage result in 13q32 at D13S154 (lod=2.29), the more proximal of the two original peaks. When all 52 pedigrees were combined, the multipoint maximum lod score peaked approximately 7 cM proximal to D13S154 (lod=3.40), with a second peak occurring between D13S225 and D13S796 (lod=2.58). There have been several other reports of significant linkage to both BP disorder and schizophrenia in this region of chromosome 13. These pedigrees provide additional evidence for at least one locus for BP disorder in 13q32, and are consistent with other reports of a possible genetic overlap between these disorders. |
Regions reported by this study for BD (count: 1)
| Region |
Statistical Values |
Author Comments |
Result Category |
| 13q32 |
For marker D13S154, For 32 pedigrees: Parametric linkage analysis: BP only, Z-max = 2.29, theta = 0.1; Nonparametric linkage analysis: BP only, LOD = 0.65, P-value = 0.04; For 52 pedigrees: Parametric linkage analysis: BP only, Z-max = 2.83, theta = 0.1; Nonparametric linkage analysis: BP only, LOD = 1.09, P-value = 0.01
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Suggestive linkage was found in this region under two differ......
Suggestive linkage was found in this region under two different diagnostic models.
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