Study Report
Basic Info
| Reference |
Maziade, M.,2001 PMID: 11673797
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| Citation |
Maziade, M., M. A. Roy, et al. (2001). "A search for specific and common susceptibility loci for schizophrenia and bipolar disorder: a linkage study in 13 target chromosomes." Mol Psychiatry 6(6): 684-693.
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| Disease Type |
Bipolar Disorder & Schizophrenia |
| Study Design |
pedigree |
| Study Type |
Genome-wide linkage study |
| Sample Size |
480 individuals from 21 multigenerational pedigrees |
| SNP/Region/Marker Size |
220 microsatellite markers across the whole genome |
| Predominant Ethnicity |
|
| Population |
Canadian |
| Gender |
Males constituted 46% of the broad CL phenotype definition. |
| Age Group |
Adults
:
The mean age of onset was 25.4 (SD=8.5) years for SZ and 28.8 (SD=10.3) years for BP. The mean current age was respectively 43.8 years and 56.4 years.
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Detail Info
| Sample Diagnosis |
DSM |
| Sample Status |
Families were ascertained in the Eastern Quebec population of French origin with a founder effect of about 350 years.We selected 21 families: six had 30-50 members, five had 20-29, seven had 10-20 and only three had less than 10 family members. The families had an average number of six members affected by SZ or BP.The narrow SZ phenotype was restricted to SZ diagnosis (n = 71), and the broad SZ phenotype included SZ, schizophreniform and schizotypal personality disorders (n = 81). The narrow BP phenotype was restricted to BP I (n = 48) and the broad BP phenotype included BP I, BP II and recurrent major depression (n = 72). In addition, to test the hypothesis that some susceptibility loci may be common to SZ and BP, we used common locus (CL) phenotype definitions: the narrow CL phenotype included SZ, BP I and schizoaffective disorder (SAD) (n = 134) while the broad CL phenotype included the CL narrow, plus recurrent major depression, schizophreniform and schizotypal personality disorders (n = 169). |
| Technique |
genotyping |
| Statistical Method |
Model-based (or parametric) linkage analyses were performed given growing evidence that they are more powerful than model free (or non-parametric) analyses even when the mode of inheritance specified is only approximately correct, provided that at least one dominant and one recessive model are considered.Two-point and three-point lod scores were systematically computed using the FASTLINK version of the LINKAGE programs. |
| Result Summary |
The strongest linkage signals were detected at D18S1145 (in 18q12; Z = 4.03) for BP, and at D6S334 (in 6p 22-24; Z(het) = 3.47; alpha = 0.66) for SZ. Three other chromosomal areas (3q, 10p, and 21q) yielded linkage signals. Chromosomes 3p, 4p, 5p, 5q, 6q, 8p, 9q, 11q, 11p, 12q, 13q, 18p and 22q showed no evidence of linkage. The 18q12 results met the Lander and Kruglyak (1995) criterion for a genome-wide significant linkage and suggested that this susceptibility region may be shared by SZ and BP. The 6p finding provided confirmatory evidence of linkage for SZ. Our results suggest that both specific and common susceptibility loci must be searched for SZ and BP. |
Regions reported by this study for BD (count: 3)
| Region |
Statistical Values |
Author Comments |
Result Category |
| 21q22 |
Two-point analysis: for BP narrow, Z-max(theta) = 2.03(0.15), Z-het = 2.03
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Suggestive linkage was found in this region.
Suggestive linkage was found in this region.
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Trend
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| 10p11-p14 |
Two-point analysis: For marker D10S2325, for BP narrow, Z-max(theta) = 0.67(0.15), Z-het = 0.8; For marker D10S674, for BP narrow, Z-max(theta) = 0.27(0.20), Z-het = 0.52
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No significant linkage was found in this region.
No significant linkage was found in this region.
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Negative
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| 18q12 |
Two-point analysis: for BP broad, Z-max(theta) = 4.03(0.15), Z-het = 4.03
|
Significant linkage was found in this region.
Significant linkage was found in this region.
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Positive
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