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  • Li, Ni L.Institute of Cancer Research London (author)

Genetic Predisposition to Multiple Myeloma at 5q15 Is Mediated by an ELL2 Enhancer Polymorphism

  • Article/chapterEnglish2017

Publisher, publication year, extent ...

  • Elsevier BV,2017
  • 9 s.

Numbers

  • LIBRIS-ID:oai:lup.lub.lu.se:bab8d70a-7ca0-48b5-9150-7961e61ba8b3
  • https://lup.lub.lu.se/record/bab8d70a-7ca0-48b5-9150-7961e61ba8b3URI
  • https://doi.org/10.1016/j.celrep.2017.08.062DOI

Supplementary language notes

  • Language:English
  • Summary in:English

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  • Subject category:art swepub-publicationtype
  • Subject category:ref swepub-contenttype

Notes

  • 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.

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  • Johnson, David C.Institute of Cancer Research London (author)
  • Weinhold, NielsUniversity of Arkansas for Medical Sciences,Heidelberg University (author)
  • Kimber, ScottInstitute of Cancer Research London (author)
  • Dobbins, Sara E.Institute of Cancer Research London (author)
  • Mitchell, Jonathan SInstitute of Cancer Research London (author)
  • Kinnersley, BenInstitute of Cancer Research London (author)
  • Sud, AmitInstitute of Cancer Research London(Swepub:lu)am6750su (author)
  • Law, Philip J.Institute of Cancer Research London (author)
  • Orlando, GiuliaInstitute of Cancer Research London (author)
  • Scales, MatthewInstitute of Cancer Research London (author)
  • Wardell, Christopher P.University of Arkansas for Medical Sciences (author)
  • Försti, AstaLund University,Lunds universitet,Allmänmedicin och klinisk epidemiologi,Forskargrupper vid Lunds universitet,Family Medicine and Clinical Epidemiology,Lund University Research Groups,German Cancer Research Centre(Swepub:lu)med-asf (author)
  • Hoang, Phuc H.Institute of Cancer Research London (author)
  • Went, MollyInstitute of Cancer Research London (author)
  • Holroyd, AmyInstitute of Cancer Research London (author)
  • Hariri, FadiMcGill University (author)
  • Pastinen, TomiMcGill University (author)
  • Meissner, TobiasAvera Cancer Institute (author)
  • Goldschmidt, HartmutHeidelberg University,National Centre of Tumor Diseases (author)
  • Hemminki, KariLund University,Lunds universitet,Allmänmedicin och klinisk epidemiologi,Forskargrupper vid Lunds universitet,Family Medicine and Clinical Epidemiology,Lund University Research Groups,German Cancer Research Centre(Swepub:lu)med-khk (author)
  • Morgan, Gareth JUniversity of Arkansas for Medical Sciences (author)
  • Kaiser, MartinInstitute of Cancer Research London (author)
  • Houlston, Richard S.Institute of Cancer Research London (author)
  • Institute of Cancer Research LondonUniversity of Arkansas for Medical Sciences (creator_code:org_t)

Related titles

  • In:Cell Reports: Elsevier BV20:11, s. 2556-25642211-1247

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