The DOI matches its Crossref record; 34 of the 34 references it cites were found in a registry or an index.
Tissue-Specific Genetic Control of Splicing: Implications for the Study of Complex Traits
Open accessAbstract
Numerous genome-wide screens for polymorphisms that influence gene expression have provided key insights into the genetic control of transcription. Despite this work, the relevance of specific polymorphisms to in vivo expression and splicing remains unclear. We carried out the first genome-wide screen, to our knowledge, for SNPs that associate with alternative splicing and gene expression in human primary cells, evaluating 93 autopsy-collected cortical brain tissue samples with no defined neuropsychiatric condition and 80 peripheral blood mononucleated cell samples collected from living healthy donors. We identified 23 high confidence associations with total expression and 80 with alternative splicing as reflected by expression levels of specific exons. Fewer than 50% of the implicated SNPs however show effects in both tissue types, reflecting strong evidence for distinct genetic control of splicing and expression in the two tissue types. The data generated here also suggest the possibility that splicing effects may be responsible for up to 13 out of 84 reported genome-wide significant associations with human traits. These results emphasize the importance of establishing a database of polymorphisms affecting splicing and expression in primary tissue types and suggest that splicing effects may be of more phenotypic significance than overall gene expression changes.
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Self-citationCommon genetic variants on 5p14.1 associate with autism spectrum disorders
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Genome-wide association analyses identify 18 new loci associated with serum urate concentrations
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GWAS of 126,559 Individuals Identifies Genetic Variants Associated with Educational Attainment
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Metadata
- Authors
- Heinzen, E. L., Ge, D., Cronin, K. D., Maia, J. M., Shianna, K. V., Gabriel, W. N., Welsh-Bohmer, K. A., Hulette, C. M., Denny, T. N., & Goldstein, D. B.
- Venue
- PLoS Biology
- Publisher
- Public Library of Science (PLoS)
- Published
- 2008-12-23
- Volume
- 6
- Issue
- 12
- Pages
- e1000001
- ISSN
- 1544-9173 (ISSN-L)
- 1545-7885
- OpenAlex
- W2049231704
- Cited by
- 269
- References
- 34
- FWCI
- 10.42
- Type
- journal article
- Language
- en
- Open access
- gold
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- Heinzen, E. L., Ge, D., Cronin, K. D., Maia, J. M., Shianna, K. V., Gabriel, W. N., Welsh-Bohmer, K. A., Hulette, C. M., Denny, T. N., & Goldstein, D. B. (2008). Tissue-Specific Genetic Control of Splicing: Implications for the Study of Complex Traits. PLoS Biology. https://doi.org/10.1371/journal.pbio.1000001
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
