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The use of clinical features to define subtypes of a disorder may aid in gene identification for complex diseases. In particular, clinical subtypes of mania may distinguish phenotypic subgroups of bipolar subjects that may also differ genetically. To assess this possibility, we performed a genome-wide association study using genotype data from the Bipolar Genome Study (BiGS) and subjects that were categorized as having either irritable or elated mania during their most severe episode. A bipolar case-only analysis in the GAIN bipolar sample identified several genomic regions that differed between irritable and elated subjects, the most significant of which was for 33 SNPs on chromosome 13q31 (peak p = 2×10(-7)). This broad peak is in a relative gene desert over an unknown EST and between the SLITRK1 and SLITRK6 genes. Evidence for association to this region came predominantly from subjects in the sample that were originally collected as part of a family-based bipolar linkage study, rather than those collected as bipolar singletons. We then genotyped an additional sample of bipolar singleton cases and controls, and the analysis of irritable vs. elated mania in this new sample did not replicate our previous findings. However, this lack of replication is likely due to the presence of significant differences in terms of clinical co-morbity that were identified between these singleton bipolar cases and those that were selected from families segregating the disorder. Despite these clinical differences, analysis of the combined sample provided continued support for 13q31 and other regions from our initial analysis. Though genome-wide significance was not achieved, our results suggest that irritable mania results from a distinct set of genes, including a region on chromosome 13q31.
Pubmed ID: 23326512
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Catalog of published genome-wide association studies. Genome-wide set of genetic variants in different individuals to see if any variant is associated with trait and disease. Database of genome-wide association study (GWAS) publications including only those attempting to assay single nucleotide polymorphisms (SNPs). Publications are organized from most to least recent date of publication. Studies are identified through weekly PubMed literature searches, daily NIH-distributed compilations of news and media reports, and occasional comparisons with an existing database of GWAS literature (HuGE Navigator). Works with HANCESTRO ancestry representation.
View all literature mentionsOpen source whole genome association analysis toolset, designed to perform range of basic, large scale analyses in computationally efficient manner. Used for analysis of genotype/phenotype data. Through integration with gPLINK and Haploview, there is some support for subsequent visualization, annotation and storage of results. PLINK 1.9 is improved and second generation of the software.
View all literature mentionsTHIS RESOURCE IS NO LONGER IN SERVICE, documented on February 07, 2013. A multidisciplinary neuroscience laboratory in which basic and clinical scientists work side by side exploring neural mechanisms and models of mental and cognitive function and of neuropsychiatric illness. Experiments are performed at many levels of inquiry, from basic molecular biology of the gene to clinical examinations of patients. A major area of investigation of this laboratory is the genetic mechanisms implicated in the pathogenesis of schizophrenia and its treatment. The laboratory is organized as a multi-disciplinary team of investigators with a common mission: to identify and fully characterize basic genetic and neurobiological mechanisms of schizophrenia and related cognitive and emotional disorders. The various components of this effort are centered various different units or divisions represented by groups of investigators, at various levels of training and experience, working on related experiments. The Director of the Branch and of the Genes, Cognition and Psychosis Program (GCAP) is Daniel R. Weinberger, M.D. The CBDB is the principle research laboratory in the created (2003) Genes, Cognition, and Psychosis Program (GCAP) of the NIMH. After twelve years of residing on the pastoral grounds of St. Elizabeths Hospital, in Southeast Washington, CBDB moved back to the main NIH campus in Bethesda, Maryland in 1998. While the unique setting of St. Elizabeths is irreplaceable, we have occupied beautiful new laboratories and clinic spaces that were created for us, and we are in the mainstream of NIH life.
View all literature mentionsOne of 27 institutes and centers that make up the NIH, National Human Genome Research Institute (NHGRI) is devoted to advancing health through genome research. The Institute led NIH''s contribution to the Human Genome Project, which was successfully completed in 2003 ahead of schedule and under budget. Building on the foundation laid by the sequencing of the human genome, NHGRI''s work now encompasses a broad range of research aimed at expanding understanding of human biology and improving human health. The NHGRI''s mission has expanded to encompass a broad range of studies aimed at understanding the structure and function of the human genome and its role in health and disease. To that end NHGRI supports the development of resources and technology that will accelerate genome research and its application to human health. A critical part of the NHGRI mission continues to be the study of the ethical, legal and social implications (ELSI) of genome research. NHGRI also supports the training of investigators and the dissemination of genome information to the public and to health professionals.
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