Aslam Nasir

Australian schizophrenia research bank: a database of comprehensive clinical, endophenotypic and genetic data for aetiological studies of schizophrenia

Objective: This article describes the establishment of the Australian Schizophrenia Research Bank (ASRB), which operates to collect, store and distribute linked clinical, cognitive, neuroimaging and genetic data from a large sample of people with schizophrenia and healthy controls. Method: Recruitment sources for the schizophrenia sample include a multi-media national advertising campaign, inpatient and community treatment services and non-government support agencies. Healthy controls have been recruited primarily through multi-media advertisements. All participants undergo an extensive diagnostic and family history assessment, neuropsychological evaluation, and blood sample donation for genetic studies. Selected individuals also complete structural MRI scans. Results: Preliminary analyses of 493 schizophrenia cases and 293 healthy controls are reported. Mean age was 39.54 years (SD = 11.1) for the schizophrenia participants and 37.38 years (SD = 13.12) for healthy controls. Compared to the controls, features of the schizophrenia sample included a higher proportion of males (cases 65.9%; controls 46.8%), fewer living in married or de facto relationships (cases 16.1%; controls 53.6%) and fewer years of education (cases 13.05, SD = 2.84; controls 15.14, SD = 3.13), as well as lower current IQ (cases 102.68, SD = 15.51; controls 118.28, SD = 10.18). These and other sample characteristics are compared to those reported in another large Australian sample (i.e. the Low Prevalence Disorders Study), revealing some differences that reflect the different sampling methods of these two studies. Conclusion: The ASRB is a valuable and accessible schizophrenia research facility for use by approved scientific investigators. As recruitment continues, the approach to sampling for both cases and controls will need to be modified to ensure that the ASRB samples are as broadly representative as possible of all cases of schizophrenia and healthy controls.

Perianal disease combined with NOD2 genotype predicts need for IBD-related surgery in Crohn's disease patients from a population-based cohort

Background: Patients with Crohn’s disease (CD) often require surgery at some stage of disease course. Prediction of CD outcome is influenced by clinical, environmental, serological, and genetic factors (eg, NOD2). Being able to identify CD patients at high risk of surgical intervention should assist clinicians to decide whether or not to prescribe early aggressive treatment with immunomodulators. Methods: We performed a retrospective analysis of selected clinical (age at diagnosis, perianal disease, active smoking) and genetic (NOD2 genotype) data obtained for a population-based CD cohort from the Canterbury Inflammatory Bowel Disease study. Logistic regression was used to identify predictors of complicated outcome in these CD patients (ie, need for inflammatory bowel disease-related surgery). Results: Perianal disease and the NOD2 genotype were the only independent factors associated with the need for surgery in this patient group (odds ratio=2.84 and 1.60, respectively). By combining the associated NOD2 genotype with perianal disease we generated a single “clinicogenetic” variable. This was strongly associated with increased risk of surgery (odds ratio=3.84, P=0.00, confidence interval, 2.28-6.46) and offered moderate predictive accuracy (positive predictive value=0.62). Approximately 1/3 of surgical outcomes in this population are attributable to the NOD2+PA variable (attributable risk=0.32). Conclusions: Knowledge of perianal disease and NOD2 genotype in patients presenting with CD may offer clinicians some decision-making utility for early diagnosis of complicated CD progression and initiating intensive treatment to avoid surgical intervention. Future studies should investigate combination effects of other genetic, clinical, and environmental factors when attempting to identify predictors of complicated CD outcomes.

THE AUSTRALIAN SCHIZOPHRENIA RESEARCH BANK (ASRB): QUALITY ASSURANCE AND CONTROL FOR A COMPREHENSIVE CLINICAL, NEUROPSYCHOLOGICAL, GENETIC AND NEUROIMAGING DATABASE FOR RESEARCHERS

involved the ability of intense UV and visible light to deplete skin and blood antioxidants. Prompting the present creativity studies was the ages-old notion of a nexus between “madness” and “genius” coupled with many laterality studies associating more intuitive modes of thought with the right hemisphere. Methods: Based on 48,038 biographies found in a 1970 edition of Whos Who in America (WWA), an initial study was a general test of association between month of birth and success in different kinds of occupations. This study having shown a remarkable birth-month difference between “artist” and “un-artist” occupations, subsequent studies used more specific artist databases (e.g., Contemporary American Painters, American Composers, American Writers) to test whether, upon stratification, a difference would be found between more successful subgroups (e.g., artists with longer biographies) and less successful ones (e.g., those only briefly mentioned). The WWA study having also indicated a birth-month contrast between biologists and mathematicians, this effect was pursued with a study of all life-scientists and mathematicians found in the Dictionary of Scientific Biography (DSB), a 17-volume compendium covering all major figures in the history of western science. Results: In the WWA study, a group representing 3,533 “VPL-Artists” (all those engaged in Visual, Performing and Literary fields) showed the same birth-month rhythm as the schizophrenics. A group representing 4,042 “BAB-Pragmatists” (mostly Business Administrators and Bankers) showed a diametrically opposite rhythm. A group representing 812 “para-Artists,” i.e., art onlookers rather than creators (art critics, historians, curators, etc.) showed the BAB-Pragmatist rhythm. In stratification studies, the top, more “important” classes of painters, actors, composers, or writers showed high, positive ratios of May-Jun to Nov-Dec conceptions; the bottom, more mediocre classes showed negative ratios. In the DSB study, a group representing 787 biologists (mean birth year: 1781) showed the BAB-Pragmatists type of rhythm; a group representing 576 mathematicians (mean birth year: 1784) showed the VPL-Artists rhythm. Discussion: (See Marzullo & Boklage, this conference).