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Germline variants a...
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Duran-Lozano, LauraLund University,Lunds universitet,Avdelningen för hematologi och transfusionsmedicin,Institutionen för laboratoriemedicin,Medicinska fakulteten,Hematogenomics,Forskargrupper vid Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Division of Hematology and Transfusion Medicine,Department of Laboratory Medicine,Faculty of Medicine,Lund University Research Groups,LUCC: Lund University Cancer Centre,Other Strong Research Environments
(author)
Germline variants at SOHLH2 influence multiple myeloma risk
- Article/chapterEnglish2021
Publisher, publication year, extent ...
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2021-04-19
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Springer Science and Business Media LLC,2021
Numbers
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LIBRIS-ID:oai:lup.lub.lu.se:d5f905c0-5220-489e-ad23-c8d9eacbca15
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https://lup.lub.lu.se/record/d5f905c0-5220-489e-ad23-c8d9eacbca15URI
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https://doi.org/10.1038/s41408-021-00468-6DOI
Supplementary language notes
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Language:English
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Summary in:English
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Classification
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Subject category:art swepub-publicationtype
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Subject category:ref swepub-contenttype
Notes
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Multiple myeloma (MM) is caused by the uncontrolled, clonal expansion of plasma cells. While there is epidemiological evidence for inherited susceptibility, the molecular basis remains incompletely understood. We report a genome-wide association study totalling 5,320 cases and 422,289 controls from four Nordic populations, and find a novel MM risk variant at SOHLH2 at 13q13.3 (risk allele frequency = 3.5%; odds ratio = 1.38; P = 2.2 × 10-14). This gene encodes a transcription factor involved in gametogenesis that is normally only weakly expressed in plasma cells. The association is represented by 14 variants in linkage disequilibrium. Among these, rs75712673 maps to a genomic region with open chromatin in plasma cells, and upregulates SOHLH2 in this cell type. Moreover, rs75712673 influences transcriptional activity in luciferase assays, and shows a chromatin looping interaction with the SOHLH2 promoter. Our work provides novel insight into MM susceptibility.
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Thorleifsson, GudmardeCODE Genetics
(author)
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Lopez de Lapuente Portilla, AitzkoaLund University,Lunds universitet,Avdelningen för hematologi och transfusionsmedicin,Institutionen för laboratoriemedicin,Medicinska fakulteten,Hematogenomics,Forskargrupper vid Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Division of Hematology and Transfusion Medicine,Department of Laboratory Medicine,Faculty of Medicine,Lund University Research Groups,LUCC: Lund University Cancer Centre,Other Strong Research Environments(Swepub:lu)med-azl
(author)
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Niroula, AbhishekLund 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,Broad Institute(Swepub:lu)med-anu
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Went, MollyThe Institute of Cancer Research
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Thodberg, MalteLund University,Lunds universitet,Avdelningen för hematologi och transfusionsmedicin,Institutionen för laboratoriemedicin,Medicinska fakulteten,Hematogenomics,Forskargrupper vid Lunds universitet,Division of Hematology and Transfusion Medicine,Department of Laboratory Medicine,Faculty of Medicine,Lund University Research Groups(Swepub:lu)ma5728th
(author)
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Pertesi, MaroulioLund University,Lunds universitet,Avdelningen för hematologi och transfusionsmedicin,Institutionen för laboratoriemedicin,Medicinska fakulteten,Hematogenomics,Forskargrupper vid Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Division of Hematology and Transfusion Medicine,Department of Laboratory Medicine,Faculty of Medicine,Lund University Research Groups,LUCC: Lund University Cancer Centre,Other Strong Research Environments(Swepub:lu)ma6865pe
(author)
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Ajore, RamLund University,Lunds universitet,Avdelningen för hematologi och transfusionsmedicin,Institutionen för laboratoriemedicin,Medicinska fakulteten,Hematogenomics,Forskargrupper vid Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Division of Hematology and Transfusion Medicine,Department of Laboratory Medicine,Faculty of Medicine,Lund University Research Groups,LUCC: Lund University Cancer Centre,Other Strong Research Environments(Swepub:lu)med-rao
(author)
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Cafaro, CaterinaLund University,Lunds universitet,Avdelningen för hematologi och transfusionsmedicin,Institutionen för laboratoriemedicin,Medicinska fakulteten,Hematogenomics,Forskargrupper vid Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Division of Hematology and Transfusion Medicine,Department of Laboratory Medicine,Faculty of Medicine,Lund University Research Groups,LUCC: Lund University Cancer Centre,Other Strong Research Environments(Swepub:lu)ca1036ca
(author)
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Olason, Pall IdeCODE Genetics
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Stefansdottir, LiljadeCODE Genetics
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Bragi Walters, GdeCODE Genetics
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Halldorsson, Gisli HdeCODE Genetics
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Turesson, IngemarSkåne University Hospital(Swepub:lu)medf-itu
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Kaiser, Martin FThe Institute of Cancer Research
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Weinhold, NielsUniversity Hospital Heidelberg
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Abildgaard, NielsOdense University Hospital
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Andersen, Niels FrostAarhus University Hospital Skejby
(author)
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Mellqvist, Ulf-HenrikSouth Elfsborg Hospital
(author)
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Waage, AndersNorwegian University of Science and Technology
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Juul-Vangsted, AnnetteCopenhagen University Hospital
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Thorsteinsdottir, UnnurdeCODE Genetics
(author)
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Hansson, MarkusLund University,Lunds universitet,Avdelningen för hematologi och transfusionsmedicin,Institutionen för laboratoriemedicin,Medicinska fakulteten,Myelomgruppen,Forskargrupper vid Lunds universitet,WCMM- Wallenberg center för molekylär medicinsk forskning,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Division of Hematology and Transfusion Medicine,Department of Laboratory Medicine,Faculty of Medicine,Myeloma research group,Lund University Research Groups,WCMM-Wallenberg Centre for Molecular Medicine,LUCC: Lund University Cancer Centre,Other Strong Research Environments,Skåne University Hospital(Swepub:lu)hema-mha
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Houlston, RichardThe Institute of Cancer Research
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Rafnar, ThorunndeCODE Genetics
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Stefansson, KarideCODE Genetics
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Nilsson, BjörnLund University,Lunds universitet,Avdelningen för hematologi och transfusionsmedicin,Institutionen för laboratoriemedicin,Medicinska fakulteten,Hematogenomics,Forskargrupper vid Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Division of Hematology and Transfusion Medicine,Department of Laboratory Medicine,Faculty of Medicine,Lund University Research Groups,LUCC: Lund University Cancer Centre,Other Strong Research Environments,Broad Institute(Swepub:lu)klin-bni
(author)
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Avdelningen för hematologi och transfusionsmedicinInstitutionen för laboratoriemedicin
(creator_code:org_t)
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In:Blood Cancer Journal: Springer Science and Business Media LLC11:42044-5385
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Duran-Lozano, La ...
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Thorleifsson, Gu ...
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Lopez de Lapuent ...
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Niroula, Abhishe ...
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Went, Molly
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Thodberg, Malte
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Pertesi, Marouli ...
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Ajore, Ram
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Cafaro, Caterina
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Stefansdottir, L ...
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Bragi Walters, G
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Halldorsson, Gis ...
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Turesson, Ingema ...
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Kaiser, Martin F
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Weinhold, Niels
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Abildgaard, Niel ...
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Andersen, Niels ...
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Mellqvist, Ulf-H ...
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Waage, Anders
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Juul-Vangsted, A ...
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Rafnar, Thorunn
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Stefansson, Kari
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Nilsson, Björn
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