Sequencing of DISC1 Pathway Genes Reveals Increased Burden of Rare Missense Variants in Schizophrenia Patients from a Northern Swedish Population
| Autor: | 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, An-Sofie Lenaerts |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2011 |
| Předmět: |
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 |
| Zdroj: | PLoS ONE PLoS ONE, Vol 6, Iss 8, p e23450 (2011) |
| ISSN: | 1932-6203 |
| Popis: | 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 |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|