Chromosome 9p21 SNPs associated with multiple disease phenotypes correlate with ANRIL expression

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dc.contributor.authorCunnington, Michael Sen_ZA
dc.contributor.authorKoref, Mauro Santibanezen_ZA
dc.contributor.authorMayosi, Bongani Men_ZA
dc.contributor.authorBurn, Johnen_ZA
dc.contributor.authorKeavney, Bernarden_ZA
dc.date.accessioned2015-11-23T12:36:56Z
dc.date.available2015-11-23T12:36:56Z
dc.date.issued2010en_ZA
dc.description.abstractAuthor Summary Genetic variants on chromosome 9p21 have been associated with several important diseases including coronary artery disease, diabetes, and multiple cancers. Most of the risk variants in this region do not alter any protein sequence and are therefore likely to act by influencing the expression of nearby genes. We investigated whether chromosome 9p21 variants are correlated with expression of the three nearest genes ( CDKN2A , CDKN2B , and ANRIL ) which might mediate the association with disease. Using two different techniques to study effects on expression in blood from two separate populations of healthy volunteers, we show that variants associated with disease are all correlated with ANRIL expression, but associations with the other two genes are weaker and less consistent. Multiple genetic variants are independently associated with expression of all three genes. Although total expression levels of CDKN2A , CDKN2B , and ANRIL are positively correlated, individual genetic variants influence ANRIL and CDKN2B expression in opposite directions, suggesting a possible role of ANRIL in CDKN2B regulation. Our study suggests that modulation of ANRIL expression mediates susceptibility to several important human diseases.en_ZA
dc.identifier.apacitationCunnington, M. S., Koref, M. S., Mayosi, B. M., Burn, J., & Keavney, B. (2010). Chromosome 9p21 SNPs associated with multiple disease phenotypes correlate with ANRIL expression. <i>PLOS Genetics</i>, http://hdl.handle.net/11427/15346en_ZA
dc.identifier.chicagocitationCunnington, Michael S, Mauro Santibanez Koref, Bongani M Mayosi, John Burn, and Bernard Keavney "Chromosome 9p21 SNPs associated with multiple disease phenotypes correlate with ANRIL expression." <i>PLOS Genetics</i> (2010) http://hdl.handle.net/11427/15346en_ZA
dc.identifier.citationCunnington, M. S., Santibanez Koref, M., Mayosi, B. M., Burn, J., & Keavney, B. (2010). Chromosome 9p21 SNPs associated with multiple disease phenotypes correlate with ANRIL expression. PLoS Genet, 6(4), e1000899. doi:10.1371/journal.pgen.1000899en_ZA
dc.identifier.ris TY - Journal Article AU - Cunnington, Michael S AU - Koref, Mauro Santibanez AU - Mayosi, Bongani M AU - Burn, John AU - Keavney, Bernard AB - Author Summary Genetic variants on chromosome 9p21 have been associated with several important diseases including coronary artery disease, diabetes, and multiple cancers. Most of the risk variants in this region do not alter any protein sequence and are therefore likely to act by influencing the expression of nearby genes. We investigated whether chromosome 9p21 variants are correlated with expression of the three nearest genes ( CDKN2A , CDKN2B , and ANRIL ) which might mediate the association with disease. Using two different techniques to study effects on expression in blood from two separate populations of healthy volunteers, we show that variants associated with disease are all correlated with ANRIL expression, but associations with the other two genes are weaker and less consistent. Multiple genetic variants are independently associated with expression of all three genes. Although total expression levels of CDKN2A , CDKN2B , and ANRIL are positively correlated, individual genetic variants influence ANRIL and CDKN2B expression in opposite directions, suggesting a possible role of ANRIL in CDKN2B regulation. Our study suggests that modulation of ANRIL expression mediates susceptibility to several important human diseases. DA - 2010 DB - OpenUCT DO - 10.1371/journal.pgen.1000899 DP - University of Cape Town J1 - PLOS Genetics LK - https://open.uct.ac.za PB - University of Cape Town PY - 2010 T1 - Chromosome 9p21 SNPs associated with multiple disease phenotypes correlate with ANRIL expression TI - Chromosome 9p21 SNPs associated with multiple disease phenotypes correlate with ANRIL expression UR - http://hdl.handle.net/11427/15346 ER - en_ZA
dc.identifier.urihttp://hdl.handle.net/11427/15346
dc.identifier.urihttp://dx.doi.org/10.1371/journal.pgen.1000899
dc.identifier.vancouvercitationCunnington MS, Koref MS, Mayosi BM, Burn J, Keavney B. Chromosome 9p21 SNPs associated with multiple disease phenotypes correlate with ANRIL expression. PLOS Genetics. 2010; http://hdl.handle.net/11427/15346.en_ZA
dc.language.isoengen_ZA
dc.publisherPublic Library of Scienceen_ZA
dc.publisher.departmentDepartment of Medicineen_ZA
dc.publisher.facultyFaculty of Health Sciencesen_ZA
dc.publisher.institutionUniversity of Cape Town
dc.rightsThis is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.en_ZA
dc.rights.holder© 2010 Cunnington et alen_ZA
dc.rights.urihttp://creativecommons.org/licenses/by/4.0en_ZA
dc.sourcePLOS Geneticsen_ZA
dc.source.urihttp://journals.plos.org/plosgeneticsen_ZA
dc.subject.otherGene expressionen_ZA
dc.subject.otherDiabetes mellitusen_ZA
dc.subject.otherAllelesen_ZA
dc.subject.otherBlooden_ZA
dc.subject.otherGene regulationen_ZA
dc.subject.otherHaplotypesen_ZA
dc.subject.otherGenetic locien_ZA
dc.subject.otherMelanomasen_ZA
dc.titleChromosome 9p21 SNPs associated with multiple disease phenotypes correlate with ANRIL expressionen_ZA
dc.typeJournal Articleen_ZA
uct.type.filetypeText
uct.type.filetypeImage
uct.type.publicationResearchen_ZA
uct.type.resourceArticleen_ZA
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