1. Sequencing of DISC1 Pathway Genes Reveals Increased Burden of Rare Missense Variants in Schizophrenia Patients from a Northern Swedish Population
- Author
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Karl-Fredrik Norrback, Maarten J. A. Van Den Bossche, Dirk Goossens, Jurgen Del-Favero, Lotte N. Moens, Wim Glassee, Ignacio Medina Castello, Rolf Adolfsson, Annelie Nordin, Peter De Rijk, Joke Reumers, Kristel Van Steen, Lars-Göran Nilsson, Sonia De Zutter, and An-Sofie Lenaerts
- Subjects
Candidate gene ,DNA Mutational Analysis ,lcsh:Medicine ,Bioinformatics ,Gene Frequency ,Biomedicinsk laboratorievetenskap/teknologi ,Missense mutation ,Biomedical Laboratory Science/Technology ,Biologiska vetenskaper ,Genome Sequencing ,Age of Onset ,lcsh:Science ,Frameshift Mutation ,Genetics ,Psychiatry ,Multidisciplinary ,biology ,Genomics ,Middle Aged ,Biological Sciences ,Mental Health ,Schizophrenia ,Medicine ,Signal Transduction ,Research Article ,Adult ,Mutation, Missense ,Nerve Tissue Proteins ,Frameshift mutation ,DISC1 ,Young Adult ,Genetic Mutation ,medicine ,Humans ,Genetic Predisposition to Disease ,Allele ,Allele frequency ,Biology ,Sweden ,lcsh:R ,Computational Biology ,Reproducibility of Results ,Human Genetics ,Sequence Analysis, DNA ,medicine.disease ,Genetics, Population ,Case-Control Studies ,Genetics of Disease ,biology.protein ,lcsh:Q ,Human medicine ,Age of onset - Abstract
In recent years, DISC1 has emerged as one of the most credible and best supported candidate genes for schizophrenia and related neuropsychiatric disorders. Furthermore, increasing evidence - both genetic and functional - indicates that many of its protein interaction partners are also involved in the development of these diseases. In this study, we applied a pooled sample 454 sequencing strategy, to explore the contribution of genetic variation in DISC1 and 10 of its interaction partners (ATF5, Grb2, FEZ1, LIS-1, PDE4B, NDE1, NDEL1, TRAF3IP1, YWHAE, and ZNF365) to schizophrenia susceptibility in an isolated northern Swedish population. Mutation burden analysis of the identified variants in a population of 486 SZ patients and 514 control individuals, revealed that non-synonymous rare variants with a MAF
- Published
- 2011