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Germline variants a...
Germline variants at SOHLH2 influence multiple myeloma risk
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- Duran-Lozano, Laura (author)
- Lund 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
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- Thorleifsson, Gudmar (author)
- deCODE Genetics
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- Lopez de Lapuente Portilla, Aitzkoa (author)
- Lund 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
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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,Broad Institute
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- Went, Molly (author)
- The Institute of Cancer Research
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- Thodberg, Malte (author)
- Lund 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
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- Pertesi, Maroulio (author)
- Lund 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
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- Ajore, Ram (author)
- Lund 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
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- Cafaro, Caterina (author)
- Lund 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
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- Olason, Pall I (author)
- deCODE Genetics
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- Stefansdottir, Lilja (author)
- deCODE Genetics
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- Bragi Walters, G (author)
- deCODE Genetics
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- Halldorsson, Gisli H (author)
- deCODE Genetics
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- Turesson, Ingemar (author)
- Skåne University Hospital
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- Kaiser, Martin F (author)
- The Institute of Cancer Research
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- Weinhold, Niels (author)
- University Hospital Heidelberg
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- Abildgaard, Niels (author)
- Odense University Hospital
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- Andersen, Niels Frost (author)
- Aarhus University Hospital Skejby
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- Mellqvist, Ulf-Henrik (author)
- South Elfsborg Hospital
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- Waage, Anders (author)
- Norwegian University of Science and Technology
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- Juul-Vangsted, Annette (author)
- Copenhagen University Hospital
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- Thorsteinsdottir, Unnur (author)
- deCODE Genetics
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- Hansson, Markus (author)
- Lund 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
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- Houlston, Richard (author)
- The Institute of Cancer Research
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- Rafnar, Thorunn (author)
- deCODE Genetics
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- Stefansson, Kari (author)
- deCODE Genetics
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- Nilsson, Björn (author)
- Lund 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
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(creator_code:org_t)
- 2021-04-19
- 2021
- English.
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In: Blood Cancer Journal. - : Springer Science and Business Media LLC. - 2044-5385. ; 11:4
- Related links:
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Abstract
Subject headings
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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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Hematologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Hematology (hsv//eng)
- 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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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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Olason, Pall I
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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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Thorsteinsdottir ...
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Hansson, Markus
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Houlston, Richar ...
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Rafnar, Thorunn
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Stefansson, Kari
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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 Hematology
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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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Blood Cancer Jou ...
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Lund University