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Functional dissecti...
Functional dissection of inherited non-coding variation influencing multiple myeloma risk
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- Ajore, Ram (author)
- Lund University,Lunds universitet,Hematogenomics,Forskargrupper vid Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Lund University Research Groups,LUCC: Lund University Cancer Centre,Other Strong Research Environments
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- Niroula, Abhishek (author)
- Lund University,Lunds universitet,Hematogenomics,Forskargrupper vid Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Lund University Research Groups,LUCC: Lund University Cancer Centre,Other Strong Research Environments,Massachusetts Institute of Technology,Harvard University,Broad Institute
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- Pertesi, Maroulio (author)
- Lund University,Lunds universitet,Hematogenomics,Forskargrupper vid Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Lund University Research Groups,LUCC: Lund University Cancer Centre,Other Strong Research Environments
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- Cafaro, Caterina (author)
- Lund University,Lunds universitet,Hematogenomics,Forskargrupper vid Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Lund University Research Groups,LUCC: Lund University Cancer Centre,Other Strong Research Environments
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- Thodberg, Malte (author)
- Lund University,Lunds universitet,Hematogenomics,Forskargrupper vid Lunds universitet,Lund University Research Groups
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- Went, Molly (author)
- Institute of Cancer Research London
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- Bao, Erik L. (author)
- Massachusetts Institute of Technology,Harvard Medical School
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- Duran-Lozano, Laura (author)
- Lund University,Lunds universitet,Hematogenomics,Forskargrupper vid Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Lund University Research Groups,LUCC: Lund University Cancer Centre,Other Strong Research Environments
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- Lopez de Lapuente Portilla, Aitzkoa (author)
- Lund University,Lunds universitet,Hematogenomics,Forskargrupper vid Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Lund University Research Groups,LUCC: Lund University Cancer Centre,Other Strong Research Environments
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- Olafsdottir, Thorunn (author)
- deCODE Genetics
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- Ugidos-Damboriena, Nerea (author)
- Lund University,Lunds universitet,Hematogenomics,Forskargrupper vid Lunds universitet,Lund University Research Groups
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- Magnusson, Olafur (author)
- deCODE Genetics
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- Samur, Mehmet (author)
- Harvard Medical School
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- Lareau, Caleb A. (author)
- Massachusetts Institute of Technology,Harvard Medical School
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- Halldorsson, Gisli H. (author)
- deCODE Genetics
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- Thorleifsson, Gudmar (author)
- deCODE Genetics
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- Norddahl, Gudmundur L. (author)
- deCODE Genetics
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- Gunnarsdottir, Kristbjorg (author)
- deCODE Genetics
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- Försti, Asta (author)
- German Cancer Research Centre
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- Goldschmidt, Hartmut (author)
- University Hospital Heidelberg
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- Hemminki, Kari (author)
- German Cancer Research Centre
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van Rhee, Frits (author)
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- Kimber, Scott (author)
- Institute of Cancer Research London
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- Sperling, Adam S. (author)
- Harvard Medical School
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- Kaiser, Martin (author)
- Institute of Cancer Research London
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- Anderson, Kenneth (author)
- Harvard Medical School
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- Jonsdottir, Ingileif (author)
- deCODE Genetics
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- Munshi, Nikhil (author)
- Harvard Medical School
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- Rafnar, Thorunn (author)
- deCODE Genetics
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- Waage, Anders (author)
- Norwegian University of Science and Technology
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- Weinhold, Niels (author)
- University Hospital Heidelberg,German Cancer Research Centre
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- Thorsteinsdottir, Unnur (author)
- deCODE Genetics
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- Sankaran, Vijay G. (author)
- Massachusetts Institute of Technology,Harvard Stem Cell Institute,Harvard Medical School
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- Stefansson, Kari (author)
- deCODE Genetics
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- Houlston, Richard (author)
- Institute of Cancer Research London
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- Nilsson, Björn (author)
- Lund University,Lunds universitet,Hematogenomics,Forskargrupper vid Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Lund University Research Groups,LUCC: Lund University Cancer Centre,Other Strong Research Environments,Massachusetts Institute of Technology
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(creator_code:org_t)
- 2022-01-10
- 2022
- English.
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In: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 13:1
- Related links:
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http://dx.doi.org/10... (free)
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https://www.nature.c...
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https://lup.lub.lu.s...
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https://doi.org/10.1...
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Abstract
Subject headings
Close
- Thousands of non-coding variants have been associated with increased risk of human diseases, yet the causal variants and their mechanisms-of-action remain obscure. In an integrative study combining massively parallel reporter assays (MPRA), expression analyses (eQTL, meQTL, PCHiC) and chromatin accessibility analyses in primary cells (caQTL), we investigate 1,039 variants associated with multiple myeloma (MM). We demonstrate that MM susceptibility is mediated by gene-regulatory changes in plasma cells and B-cells, and identify putative causal variants at six risk loci (SMARCD3, WAC, ELL2, CDCA7L, CEP120, and PREX1). Notably, three of these variants co-localize with significant plasma cell caQTLs, signaling the presence of causal activity at these precise genomic positions in an endogenous chromosomal context in vivo. Our results provide a systematic functional dissection of risk loci for a hematologic malignancy.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
Publication and Content Type
- art (subject category)
- ref (subject category)
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To the university's database
- By the author/editor
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Ajore, Ram
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Niroula, Abhishe ...
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Pertesi, Marouli ...
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Cafaro, Caterina
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Thodberg, Malte
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Went, Molly
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show more...
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Bao, Erik L.
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Duran-Lozano, La ...
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Lopez de Lapuent ...
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Olafsdottir, Tho ...
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Ugidos-Damborien ...
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Magnusson, Olafu ...
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Samur, Mehmet
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Lareau, Caleb A.
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Halldorsson, Gis ...
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Thorleifsson, Gu ...
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Norddahl, Gudmun ...
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Gunnarsdottir, K ...
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Försti, Asta
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Goldschmidt, Har ...
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Hemminki, Kari
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van Rhee, Frits
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Kimber, Scott
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Sperling, Adam S ...
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Kaiser, Martin
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Anderson, Kennet ...
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Jonsdottir, Ingi ...
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Munshi, Nikhil
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Rafnar, Thorunn
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Waage, Anders
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Weinhold, Niels
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Thorsteinsdottir ...
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Sankaran, Vijay ...
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Stefansson, Kari
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Houlston, Richar ...
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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 Clinical Medicin ...
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and Cancer and Oncol ...
- Articles in the publication
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Nature Communica ...
- By the university
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Lund University