Study Report
Basic Info
| Reference |
Cichon, S.,2001(b) PMID: 11741836
|
| Citation |
Cichon, S., J. Schumacher, et al. (2001). "A genome screen for genes predisposing to bipolar affective disorder detects a new susceptibility locus on 8q." Hum Mol Genet 10(25): 2933-2944.
|
| Disease Type |
Bipolar Disorder |
| Study Design |
pedigree |
| Study Type |
Genome-wide linkage study |
| Sample Size |
75 families with 444 individuals |
| SNP/Region/Marker Size |
a complete genome screen with 382 markers (average marker spacing of 9.3 cM) |
| Predominant Ethnicity |
Caucasian |
| Population |
German,Israeli and Italian |
Detail Info
| Sample Diagnosis |
DSM and RDC |
| Sample Status |
We are currently conducting a systematic genome screen with highly polymorphic microsatellite markers at an average marker spacing of 10 cM in a series of 75 families, comprising 66 families from Germany, eight families from Israel, and one family from Italy. The families were ascertained through index cases with bipolar affective disorder. The distribution of diagnoses is as follows: 126 individuals with bipolar I disorder, 40 with bipolar II disorder, 14 with schizoaffective disorder of the bipolar type, 40 individuals with recurrent unipolar depression, 51 with a minor psychiatric diagnosis, and two individuals with a diagnosis of schizophrenia. One hundred and seventy-one individuals are unaffected. |
| Technique |
genotyping |
| Statistical Method |
Two models of affection were used in the linkage analyses: affection status model (ASM) I (narrow definition of the phenotype) included only individuals with BPI as affected, all other psychiatric diagnoses were coded as 'unknown'; ASM II (broad definition) included all individuals with a diagnosis of BPI, BPII SA/BP, and UPR with UPS and other minor psychiatric disorders coded 'unknown'.Two-point LOD scores were calculated by means of MLINK and ILINK programs of the LINKAGE package version 5.2.Multipoint LOD scores as well as non-parametric multipoint analyses were performed using the GENEHUNTER program Version 2.0B. |
| Result Summary |
The highest two-point LOD score was obtained on 8q24 (D8S514; LOD score = 3.62), in a region that has not attracted much attention in previous linkage studies of BPAD. The second best finding was seen on 10q25-q26 (D10S217; LOD score = 2.86) and has been reported in independent studies of BPAD. Other regions showing 'suggestive' evidence for linkage localized to 1p33-p36, 2q21-q33, 3p14, 3q26-q27, 6q21-q22, 8p21, 13q11 and 14q12-q13. In addition, we aimed at detecting possible susceptibility loci underlying genomic imprinting by analyzing the autosomal genotype data with the recently developed extension of the GENEHUNTER program, GENEHUNTER-IMPRINTING. Putative paternally imprinted loci were identified in chromosomal regions 2p24-p21 and 2q31-q32. Maternally imprinted susceptibility genes may be located on 14q32 and 16q21-q23. |
Regions reported by this study for BD (count: 7)
| Region |
Statistical Values |
Author Comments |
Result Category |
| 10q25-q26 |
Linkage analysis: two-point LOD = 2.86
|
Suggestive linkage was found in this region.
Suggestive linkage was found in this region.
|
Trend
|
| 13q11 |
Linkage analysis: two-point LOD = 2.337
|
Suggestive linkage was found in this region.
Suggestive linkage was found in this region.
|
Trend
|
| 14q12-q13 |
Linkage analysis: two-point LOD = 1.998
|
Suggestive linkage was found in this region.
Suggestive linkage was found in this region.
|
Trend
|
| 1p33-p36 |
Linkage analysis: D1S234, two-point LOD = 2.028; D1S220, two-point LOD = 2.154
|
Suggestive linkage was found in this region.
Suggestive linkage was found in this region.
|
Trend
|
| 2q21-q33 |
Linkage analysis: For marker D2S368, two-point LOD = 1.977; D2S141, two-point LOD = 1.961; For marker D2S326, two-point LOD = 2.052
|
Suggestive linkage was found in this region.
Suggestive linkage was found in this region.
|
Trend
|
| 8p21 |
Linkage analysis: two-point LOD = 2.303
|
Suggestive linkage was found in this region.
Suggestive linkage was found in this region.
|
Trend
|
| 8q24 |
Linkage analysis: two-point LOD = 3.62
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Significant linkage was found in this region.
Significant linkage was found in this region.
|
Positive
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