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Schizophrenia has long been known to be an illness with significant evidence for a genetic predisposition. The purpose of this study is to determine the genetic abnormalities that cause childhood and adult onset schizophrenia.
It is known from genetic linkage and gene expression studies that the alpha 7 nicotinic receptor gene is abnormally expressed in people with schizophrenia. The immediate objectives of this proposal support the long-term objectives of a comprehensive description of the pathophysiology of schizophrenia and new drug treatments by carefully defining the physiological genotype-phenotype relationship for a single candidate gene. Subjects and family members with a mental illness or who appear to have a mental illness will be asked to undergo an interview, perform some mental tests and have a blood, urine, and saliva sample taken one time.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Diagnostic | A diagnostic was performed |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Diagnostic | Other | Diagnostic evaluation for schizophrenia. Schizophrenia includes schizophrenia and schizoaffective disorder. |
|
| Measure | Description | Time Frame |
|---|---|---|
| Genetic Linkage | Log of the Odds for Linkage, a standard genetic analysis metric. The number shown as a result is from a polymorphism in the promoter of the gene for the alpha7 nicotinic receptor on chromosome. Its presence in the individuals in this study, considering all three groups in one analysis, is compared to what of P50 sensory gating. P50 is a Positive wave in scalp-recorded auditory evoked potential that occurs 50 msec after the sound stimulus. P50 sensory gating is the decrement in this wave to the second of repeated sounds. The log of the odds is the common logarithm of the ratio of the odds that the gene polymorphism and P50 sensory gating are associated versus the odds that they are both distributed in the individuals at random. It is similar to the more common chi squared. | ten years |
| Heritability Coefficient | h squared which ranges from 0 to 1. This number is similar to the more standard Pearson's correlation coefficient, except that the variable, in this case P50 sensory gating, is correlated across the statuses: schizophrenia proband (has the illness), schizophrenia relative (not ill but relative of someone who is), or control (not ill and has no known ill relative, P50 is a Positive wave in scalp-recorded auditory evoked potential that occurs 50 msec after the sound stimulus. P50 sensory gating is the decrement in this wave to the second of repeated sounds. | 5 years |
| Log of the ODDS of Linkage | Log of the ODDS ratio of Linkage divided by the ODDS of no linkage from a maximum likelihood analysis conducted using the statistical program LINKAGE | 1 day |
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Inclusion Criteria:
Exclusion Criteria:
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Persons with schizophrenia, their relatives, and controls
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| Name | Affiliation | Role |
|---|---|---|
| Robert Freedman, MD | VA Eastern Colorado Health Care System, Denver | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| VA Eastern Colorado Health Care System, Denver | Denver | Colorado | 80220 | United States |
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| ID | Title | Description |
|---|---|---|
| FG000 | Schizophrenia Probands | Persons who meet DSM-IV diagnostic criteria for schizophrenia or schizoaffective disorder. |
| FG001 | Schizophrenia Relatives | Subjects who are first degree relatives of subjects in Arm 1. |
| FG002 | Controls | Subjects who are unrelated to persons with schizophrenia and do not fulfill criteria for schizophrenia themselves. |
| Title | Milestones | Reasons Not Completed | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Overall Study |
|
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| ID | Title | Description |
|---|---|---|
| BG000 | Schizophrenia Probands | Persons who meet DSM-IV criteria for schizophrenia or schizoaffective disorder |
| BG001 | Schizophrenia Relatives | Persons who are first degree relatives of persons in Arm 1 |
| Units | Counts |
|---|---|
| Participants |
|
| Title | Description | Population Description | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Denominator Units Selected | Denominators | Classes |
|---|---|---|---|---|---|---|---|---|---|
| Age, Categorical | Count of Participants |
| Type | Title | Description | Population Description | Reporting Status | Anticipated Posting Date | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Time Frame | Units Analyzed | Denominator Units Selected | Arm/Group Information | Denominators | Classes | Analyses | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Primary | Genetic Linkage | Log of the Odds for Linkage, a standard genetic analysis metric. The number shown as a result is from a polymorphism in the promoter of the gene for the alpha7 nicotinic receptor on chromosome. Its presence in the individuals in this study, considering all three groups in one analysis, is compared to what of P50 sensory gating. P50 is a Positive wave in scalp-recorded auditory evoked potential that occurs 50 msec after the sound stimulus. P50 sensory gating is the decrement in this wave to the second of repeated sounds. The log of the odds is the common logarithm of the ratio of the odds that the gene polymorphism and P50 sensory gating are associated versus the odds that they are both distributed in the individuals at random. It is similar to the more common chi squared. | People with schizophrenia and their relatives in families and controls as members of single families were used to establish the log of the odds ratio. | Posted | Number | log (odds ratio) | ten years |
|
1 year
People were checked for bruising at the time of study.
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| ID | Title | Description | Deaths (Affected) | Deaths (At Risk) | Serious Events (Affected) | Serious Events (At Risk) | Other Events (Affected) | Other Events (At Risk) |
|---|---|---|---|---|---|---|---|---|
| EG000 | Schizophrenia Probands | Schizophrenia probands as diagnosed as having schizophrenia |
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Genetic linkage and association do not replicate well across studies. This study should be viewed in this context.
| Title | Organization | Phone | Extension | |
|---|---|---|---|---|
| Dr. Robert Freedman | VA | 3037244940 | Robert.Freedman@ucdenver.edu |
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| ID | Term |
|---|---|
| D012559 | Schizophrenia |
| ID | Term |
|---|---|
| D019967 | Schizophrenia Spectrum and Other Psychotic Disorders |
| D001523 | Mental Disorders |
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dna
| BG002 | Controls | Persons who are not related to persons in Arm 2 and do not have schizophrenia themselves. |
| BG003 | Total | Total of all reporting groups |
| Participants |
|
| Age, Continuous | Age at study was taken by asking the subjects how old they were. | Mean | Inter-Quartile Range | years |
|
| Sex: Female, Male | Count of Participants | Participants |
|
| Ethnicity (NIH/OMB) | Count of Participants | Participants |
|
| Race (NIH/OMB) | Count of Participants | Participants |
|
| Region of Enrollment | Number | participants |
|
| Sensory gating ratio | Ratio of the positive 50 millisecond component amplitude of the vertex auditory evoked potential in response to the second of \paired auditory tones | Mean | Standard Deviation | percent |
|
| Group 1 |
Subjects who receive genetic study. |
|
|
|
| Primary | Heritability Coefficient | h squared which ranges from 0 to 1. This number is similar to the more standard Pearson's correlation coefficient, except that the variable, in this case P50 sensory gating, is correlated across the statuses: schizophrenia proband (has the illness), schizophrenia relative (not ill but relative of someone who is), or control (not ill and has no known ill relative, P50 is a Positive wave in scalp-recorded auditory evoked potential that occurs 50 msec after the sound stimulus. P50 sensory gating is the decrement in this wave to the second of repeated sounds. | Schizophrenia probands and relatives and controls. | Posted | Number | coefficient | 5 years | Heritability | Participants |
|
|
|
|
| Primary | Log of the ODDS of Linkage | Log of the ODDS ratio of Linkage divided by the ODDS of no linkage from a maximum likelihood analysis conducted using the statistical program LINKAGE | Probands with schizophrenia, their relatives, and controls. The log of the odds ratio summarizes data from the entire study population. | Posted | Number | units on a log scale | 1 day |
|
|
|
| 0 |
| 179 |
| 0 |
| 179 |
| EG001 | Schizophrenia Relatives | Schizophrenia relatives who siblings or children of persons with schizophrenia | 0 | 179 | 0 | 179 |
| EG002 | Controls | Controls who do not have personal or family history of schizophrenia | 0 | 179 | 0 | 179 |
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