dc.contributor.author | Li, N | |
dc.contributor.author | Johnson, DC | |
dc.contributor.author | Weinhold, N | |
dc.contributor.author | Kimber, S | |
dc.contributor.author | Dobbins, SE | |
dc.contributor.author | Mitchell, JS | |
dc.contributor.author | Kinnersley, B | |
dc.contributor.author | Sud, A | |
dc.contributor.author | Law, PJ | |
dc.contributor.author | Orlando, G | |
dc.contributor.author | Scales, M | |
dc.contributor.author | Wardell, CP | |
dc.contributor.author | Försti, A | |
dc.contributor.author | Hoang, PH | |
dc.contributor.author | Went, M | |
dc.contributor.author | Holroyd, A | |
dc.contributor.author | Hariri, F | |
dc.contributor.author | Pastinen, T | |
dc.contributor.author | Meissner, T | |
dc.contributor.author | Goldschmidt, H | |
dc.contributor.author | Hemminki, K | |
dc.contributor.author | Morgan, GJ | |
dc.contributor.author | Kaiser, M | |
dc.contributor.author | Houlston, RS | |
dc.date.accessioned | 2017-11-22T11:28:34Z | |
dc.date.issued | 2017-09-12 | |
dc.identifier.citation | Cell reports, 2017, 20 (11), pp. 2556 - 2564 | |
dc.identifier.issn | 2211-1247 | |
dc.identifier.uri | https://repository.icr.ac.uk/handle/internal/923 | |
dc.identifier.eissn | 2211-1247 | |
dc.identifier.doi | 10.1016/j.celrep.2017.08.062 | |
dc.description.abstract | Multiple myeloma (MM) is a malignancy of plasma cells. Genome-wide association studies have shown that variation at 5q15 influences MM risk. Here, we have sought to decipher the causal variant at 5q15 and the mechanism by which it influences tumorigenesis. We show that rs6877329 G > C resides in a predicted enhancer element that physically interacts with the transcription start site of ELL2. The rs6877329-C risk allele is associated with reduced enhancer activity and lowered ELL2 expression. Since ELL2 is critical to the B cell differentiation process, reduced ELL2 expression is consistent with inherited genetic variation contributing to arrest of plasma cell development, facilitating MM clonal expansion. These data provide evidence for a biological mechanism underlying a hereditary risk of MM at 5q15. | |
dc.format | Print | |
dc.format.extent | 2556 - 2564 | |
dc.language | eng | |
dc.language.iso | eng | |
dc.publisher | CELL PRESS | |
dc.rights.uri | https://creativecommons.org/licenses/by/4.0 | |
dc.subject | Chromosomes, Human, Pair 5 | |
dc.subject | Humans | |
dc.subject | Multiple Myeloma | |
dc.subject | Genetic Predisposition to Disease | |
dc.subject | Nuclear Proteins | |
dc.subject | Transcriptional Elongation Factors | |
dc.subject | Prognosis | |
dc.subject | Risk Factors | |
dc.subject | Physical Chromosome Mapping | |
dc.subject | Epigenesis, Genetic | |
dc.subject | Protein Binding | |
dc.subject | Diploidy | |
dc.subject | Polymorphism, Single Nucleotide | |
dc.subject | Alleles | |
dc.subject | Enhancer Elements, Genetic | |
dc.subject | Genetic Loci | |
dc.subject | Unfolded Protein Response | |
dc.subject | Epigenomics | |
dc.subject | Transcription Elongation, Genetic | |
dc.title | Genetic Predisposition to Multiple Myeloma at 5q15 Is Mediated by an ELL2 Enhancer Polymorphism. | |
dc.type | Journal Article | |
dcterms.dateAccepted | 2017-08-18 | |
rioxxterms.versionofrecord | 10.1016/j.celrep.2017.08.062 | |
rioxxterms.licenseref.uri | https://creativecommons.org/licenses/by/4.0 | |
rioxxterms.licenseref.startdate | 2017-09 | |
rioxxterms.type | Journal Article/Review | |
dc.relation.isPartOf | Cell reports | |
pubs.issue | 11 | |
pubs.notes | Not known | |
pubs.organisational-group | /ICR | |
pubs.organisational-group | /ICR/Primary Group | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Genetics and Epidemiology | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Cancer Genomics | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Molecular Pathology | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Molecular Pathology/Molecular & Population Genetics | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Molecular Pathology/Myeloma Group | |
pubs.organisational-group | /ICR/Students | |
pubs.organisational-group | /ICR/Students/PhD and MPhil | |
pubs.organisational-group | /ICR/Students/PhD and MPhil/16/17 Starting Cohort | |
pubs.organisational-group | /ICR | |
pubs.organisational-group | /ICR/Primary Group | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Genetics and Epidemiology | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Cancer Genomics | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Molecular Pathology | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Molecular Pathology/Molecular & Population Genetics | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Molecular Pathology/Myeloma Group | |
pubs.organisational-group | /ICR/Students | |
pubs.organisational-group | /ICR/Students/PhD and MPhil | |
pubs.organisational-group | /ICR/Students/PhD and MPhil/16/17 Starting Cohort | |
pubs.publication-status | Published | |
pubs.volume | 20 | |
pubs.embargo.terms | Not known | |
icr.researchteam | Cancer Genomics | |
icr.researchteam | Molecular & Population Genetics | |
icr.researchteam | Myeloma Group | |
dc.contributor.icrauthor | Li, Ni | |
dc.contributor.icrauthor | Johnson, David | |
dc.contributor.icrauthor | Kinnersley, Benjamin | |
dc.contributor.icrauthor | Sud, Amit | |
dc.contributor.icrauthor | Law, Philip | |
dc.contributor.icrauthor | Scales, Matthew | |
dc.contributor.icrauthor | Hoang, Phuc | |
dc.contributor.icrauthor | Went, Molly | |
dc.contributor.icrauthor | Kaiser, Martin | |
dc.contributor.icrauthor | Houlston, Richard | |