A post-GWAS analysis of predicted regulatory variants and tuberculosis susceptibility

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dc.contributor.authorUren, Caitlinen_ZA
dc.contributor.authorHenn, Brenna M.en_ZA
dc.contributor.authorFranke, Andreen_ZA
dc.contributor.authorWittig, Michaelen_ZA
dc.contributor.authorVan Helden, Paul D.en_ZA
dc.contributor.authorHoal, Eileen G.en_ZA
dc.contributor.authorMoller, Marloen_ZA
dc.date.accessioned2017-04-18T08:09:32Z
dc.date.available2017-04-18T08:09:32Z
dc.date.issued2017
dc.descriptionCITATION: Uren, C., et al. 2017. A post-GWAS analysis of predicted regulatory variants and tuberculosis susceptibility. PLoS ONE, 2(4):1-12, doi:10.1371/journal.pone.0174738.en_ZA
dc.descriptionThe original publication is available at http://journals.plos.org/plosone
dc.description.abstractUtilizing data from published tuberculosis (TB) genome-wide association studies (GWAS), we use a bioinformatics pipeline to detect all polymorphisms in linkage disequilibrium (LD) with variants previously implicated in TB disease susceptibility. The probability that these variants had a predicted regulatory function was estimated using RegulomeDB and Ensembl's Variant Effect Predictor. Subsequent genotyping of these 133 predicted regulatory polymorphisms was performed in 400 admixed South African TB cases and 366 healthy controls in a population-based case-control association study to fine-map the causal variant. We detected associations between tuberculosis susceptibility and six intronic polymorphisms located in MARCO, IFNGR2, ASHAS2, ACACA, NISCH and TLR10. Our post- GWAS approach demonstrates the feasibility of combining multiple TB GWAS datasets with linkage information to identify regulatory variants associated with this infectious disease.en_ZA
dc.description.urihttp://journals.plos.org/plosone/article?id=10.1371/journal.pone.0174738en_ZA
dc.description.versionPublisher's versionen_ZA
dc.format.extent12 pagesen_ZA
dc.identifier.citationUren, C., et al. 2017. A post-GWAS analysis of predicted regulatory variants and tuberculosis susceptibility. PLoS ONE, 2(4):1-12, doi:10.1371/journal.pone.0174738en_ZA
dc.identifier.issn1932-6203 (online)
dc.identifier.issn1932-6203 (print)
dc.identifier.otherdoi:10.1371/journal.pone.0174738
dc.identifier.urihttp://hdl.handle.net/10019.1/101505
dc.language.isoen_ZAen_ZA
dc.publisherPublic Library of Scienceen_ZA
dc.rights.holderAuthors retain copyrighten_ZA
dc.subjectTuberculosis -- Susceptibilityen_ZA
dc.subjectTuberculosis -- Genome-wide association studyen_ZA
dc.subjectTuberculosis -- Variantsen_ZA
dc.subjectTuberculosis -- Genetic factorsen_ZA
dc.titleA post-GWAS analysis of predicted regulatory variants and tuberculosis susceptibilityen_ZA
dc.typeArticleen_ZA
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