Source:http://linkedlifedata.com/resource/pubmed/id/21445958
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
4
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| pubmed:dateCreated |
2011-4-26
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| pubmed:abstractText |
We previously performed a linkage study using families identified through probands meeting criteria for DSM-IV schizoaffective disorder, bipolar type (SABP) and observed a genome-wide significant signal (LOD?=?3.54) at chromosome 1q42 close to DISC1. An initial sequencing study of DISC1 using 14 unrelated DSM-IV SABP samples from the linkage study identified 2 non-synonymous coding SNPs in exon 11 in 2 separate individuals. Here we provide evidence of additional rare coding SNPs within exon 11. In sequencing exon 11 in 506 cases and 1,211 controls for variants that occurred only once, 4 additional rare variants were found in cases (P-value?=?0.008, Fisher's exact trend test).
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| pubmed:grant | |
| pubmed:language |
eng
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| pubmed:journal | |
| pubmed:citationSubset |
IM
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| pubmed:chemical | |
| pubmed:status |
MEDLINE
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| pubmed:month |
Jun
|
| pubmed:issn |
1552-485X
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| pubmed:author |
pubmed-author:CraddockNN,
pubmed-author:FerrierI NIN,
pubmed-author:FortyLL,
pubmed-author:Gordon-SmithKK,
pubmed-author:GreenE KEK,
pubmed-author:GrozevaDD,
pubmed-author:JonesII,
pubmed-author:JonesLL,
pubmed-author:KirovGG,
pubmed-author:NIWACC,
pubmed-author:O'DonovanM CMC,
pubmed-author:RaybouldRR,
pubmed-author:RussellEE,
pubmed-author:SimsRR,
pubmed-author:St ClairDD,
pubmed-author:YoungA HAH
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| pubmed:copyrightInfo |
Copyright © 2011 Wiley-Liss, Inc.
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| pubmed:issnType |
Electronic
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| pubmed:volume |
156B
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| pubmed:owner |
NLM
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| pubmed:authorsComplete |
Y
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| pubmed:pagination |
490-2
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| pubmed:meshHeading |
pubmed-meshheading:21445958-Bipolar Disorder,
pubmed-meshheading:21445958-Case-Control Studies,
pubmed-meshheading:21445958-Exons,
pubmed-meshheading:21445958-Genetic Linkage,
pubmed-meshheading:21445958-Genetic Predisposition to Disease,
pubmed-meshheading:21445958-Humans,
pubmed-meshheading:21445958-Mutation, Missense,
pubmed-meshheading:21445958-Nerve Tissue Proteins,
pubmed-meshheading:21445958-Polymorphism, Single Nucleotide,
pubmed-meshheading:21445958-Psychotic Disorders
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| pubmed:year |
2011
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| pubmed:articleTitle |
DISC1 exon 11 rare variants found more commonly in schizoaffective spectrum cases than controls.
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| pubmed:affiliation |
MRC Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, Heath Park, United Kingdom. greenek@cf.ac.uk
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| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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