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October 2, 2007 NIMH Science Update Bipolar Disorder Phenome Database May Aid Search for Related Genes
For published accounts of QuickSNP see Nucleic Acids Research, online, May 21, 2007 FACULTY James B. Potash, M.D. Peter P. Zandi, Ph.D. Virginia L. Willour, Ph.D. Dean F. MacKinnon, M.D. RESEARCH FELLOWS AND STAFF Pamela Belmonte, Ph.D. Fernando Goes, M.D. Deepak Grover, Ph.D. Yuqing Huo, M.D. Kuangyi Miao, M.S. Danielle Reed Jennifer Toolan, M.S. Ranjana Verma, Ph.D. LINKS
Mood Disorders Program
Bipolar Disorder and Depression Genetics Studies | This site was created to harness bioinformatics to the task of finding susceptibility variations/genes for depression and bipolar disorder. As an ongoing project, it offers access to tools that can facilitate the fine-mapping of mood disorder loci. We presently offer both QuickSNP, a web server to improve selection of tagSNPs, and open access to the Bipolar Disorder Phenome Database. Additional tools are under development. QuickSNP QuickSNP was developed to help researchers select SNPs for association studies in a cost-effective and efficient manner. It allows for gene-centric SNP selection from a chromosomal region in an automated fashion, automated selection of coding non-synonymous SNPs, and SNP filtering based on inter-SNP distance. It also provides information on availability of genotyping assays for SNPs, and availability of SNPs on whole genome chips, and it produces user-friendly summary tables and results as well as a link to a UCSC Genome Browser track, illustrating the position of the selected tagSNPs in relation to genes and other genomic features. The Bipolar Disorder Phenome Database
Johns Hopkins and NIMH researchers have jointly created this database, which posts the clinical phenotypes of over 5,000 people recruited for bipolar disorder genetics studies. The Bipolar Disorder Phenome database is meant to complement the large bodies of genetic data that are being generated through the Human Genome Project, The International HapMap Consortium, the Genetic Analysis Information Network, and similar efforts. The goal is to accelerate discovery of genes that contribute to this common and often disabling disease, by promoting the genetic analysis of clinical subtypes. Researchers can now explore connections between clinical variables and genetics with adequate numbers of subjects to detect even moderate genetic effects. Chromosome 8 SNP Data Research at Johns Hopkins University and University of Michigan collaborated to genotype 1,461 SNPs on chromosome 8q24 in 3,512 individuals, of whom 1,954 were affected with bipolar disorder. These individuals came from 737 families that consisted of 1,142 nuclear families and broke down into 1,840 parent affected offspring triads (573 with zero genotyped parents, 641 with one genotyped parent, and 626 with two genotyped parents) and 333 discordant sib-pairs. The individuals were ascertained and assessed through the Mood Disorders Research Program at Johns Hopkins University and as part of the National Institute of Mental Health Genetics Initiative on Bipolar Disorder. Chromosome 8q24 is one of the most promising regions of linkage in bipolar disorder, and this data was generated to fine map the region and search for associations. The genotype and phenotype data have been fully vetted and are made available to qualified investigators in order to stimulate research in this promising locus and to facilitate the development of statistical methods for analyzing this type of family data. |
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