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The multiple myelom...
The multiple myeloma risk allele at 5q15 lowers ELL2 expression and increases ribosomal gene expression
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- Ali, Mina (author)
- Lund University,Lunds universitet,Hematogenomics,Forskargrupper vid Lunds universitet,Lund University Research Groups
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- Ajore, Ram (author)
- Lund University,Lunds universitet,Hematogenomics,Forskargrupper vid Lunds universitet,Lund University Research Groups
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- Wihlborg, Anna Karin (author)
- Lund University,Lunds universitet,Hematogenomics,Forskargrupper vid Lunds universitet,Lund University Research Groups
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- Niroula, Abhishek (author)
- Lund University,Lunds universitet,Hematogenomics,Forskargrupper vid Lunds universitet,Lund University Research Groups
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- Swaminathan, Bhairavi (author)
- Lund University,Lunds universitet,Avdelningen för hematologi och transfusionsmedicin,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Hematology and Transfusion Medicine,Department of Laboratory Medicine,Faculty of Medicine
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- Johnsson, Ellinor (author)
- Lund University,Lunds universitet,Hematogenomics,Forskargrupper vid Lunds universitet,Lund University Research Groups
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- Stephens, OW (author)
- University of Arkansas for Medical Sciences
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- Morgan, G (author)
- University of Arkansas for Medical Sciences
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- Meissner, T (author)
- Avera Cancer Institute
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- Turesson, Ingemar (author)
- Lund University,Lunds universitet,Myelomgruppen,Forskargrupper vid Lunds universitet,Myeloma research group,Lund University Research Groups
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- Goldschmidt, H (author)
- Heidelberg University,German Cancer Research Centre
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Mellqvist, UH (author)
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- Gullberg, Urban (author)
- Lund University,Lunds universitet,Undersökning av molekylära sjukdomsmekanismer vid blodcancer,Forskargrupper vid Lunds universitet,Transcriptional mechanisms for the Wilms’ tumor gene 1 (WT1) oncoprotein,Lund University Research Groups
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- Hansson, Markus (author)
- Lund University,Lunds universitet,Myelomgruppen,Forskargrupper vid Lunds universitet,Myeloma research group,Lund University Research Groups,Skåne University Hospital
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- Hemminki, Kari (author)
- Lund University,Lunds universitet,Allmänmedicin och klinisk epidemiologi,Forskargrupper vid Lunds universitet,Family Medicine and Clinical Epidemiology,Lund University Research Groups,German Cancer Research Centre
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- Nahi, H (author)
- Karolinska Institute,Karolinska Institutet
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- Waage, A (author)
- Norwegian University of Science and Technology
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- Weinhold, N (author)
- University of Arkansas for Medical Sciences
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- Nilsson, Björn (author)
- Lund University,Lunds universitet,Hematogenomics,Forskargrupper vid Lunds universitet,Lund University Research Groups,Broad Institute
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(creator_code:org_t)
- 2018-04-25
- 2018
- English.
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In: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 9:1, s. 1649-
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Abstract
Subject headings
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- Recently, we identified ELL2 as a susceptibility gene for multiple myeloma (MM). To understand its mechanism of action, we performed expression quantitative trait locus analysis in CD138+ plasma cells from 1630 MM patients from four populations. We show that the MM risk allele lowers ELL2 expression in these cells (Pcombined = 2.5 × 10−27; βcombined = −0.24 SD), but not in peripheral blood or other tissues. Consistent with this, several variants representing the MM risk allele map to regulatory genomic regions, and three yield reduced transcriptional activity in plasmocytoma cell lines. One of these (rs3777189-C) co-locates with the best-supported lead variants for ELL2 expression and MM risk, and reduces binding of MAFF/G/K family transcription factors. Moreover, further analysis reveals that the MM risk allele associates with upregulation of gene sets related to ribosome biogenesis, and knockout/knockdown and rescue experiments in plasmocytoma cell lines support a cause–effect relationship. Our results provide mechanistic insight into MM predisposition.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Ali, Mina
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Ajore, Ram
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Wihlborg, Anna K ...
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Niroula, Abhishe ...
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Swaminathan, Bha ...
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Johnsson, Ellino ...
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show more...
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Stephens, OW
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Morgan, G
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Meissner, T
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Turesson, Ingema ...
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Goldschmidt, H
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Mellqvist, UH
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Gullberg, Urban
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Hansson, Markus
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Hemminki, Kari
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Nahi, H
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Waage, A
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Weinhold, N
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Nilsson, Björn
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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Nature communica ...
- By the university
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Karolinska Institutet
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Lund University