Direct evidence for a polygenic etiology in familial multiple myeloma.

Autor:	Halvarsson BM; Hematology and Transfusion Medicine, Department of Laboratory Medicine, Lund University, Lund, Sweden., Wihlborg AK; Hematology and Transfusion Medicine, Department of Laboratory Medicine, Lund University, Lund, Sweden., Ali M; Hematology and Transfusion Medicine, Department of Laboratory Medicine, Lund University, Lund, Sweden., Lemonakis K; Hematology and Transfusion Medicine, Department of Laboratory Medicine, Lund University, Lund, Sweden.; Hematology Clinic, Skåne University Hospital, Lund, Sweden., Johnsson E; Hematology and Transfusion Medicine, Department of Laboratory Medicine, Lund University, Lund, Sweden., Niroula A; Hematology and Transfusion Medicine, Department of Laboratory Medicine, Lund University, Lund, Sweden., Cibulskis C; Broad Institute, Cambridge, MA., Weinhold N; Department of Internal Medicine V, University of Heidelberg, Heidelberg, Germany., Försti A; German Cancer Research Center, Heidelberg, Germany.; Center for Primary Health Care Research, Lund University, Malmö, Sweden., Alici E; Center for Hematology and Regenerative Medicine, Karolinska Institutet, Stockholm, Sweden., Langer C; Department of Internal Medicine III, University of Ulm, Ulm, Germany., Pfreundschuh M; José Carreras Center for Immuno and Gene Therapy, Department of Internal Medicine I, Saarland University Medical School, Homburg (Saar), Germany., Goldschmidt H; Department of Internal Medicine V, University of Heidelberg, Heidelberg, Germany.; National Center for Tumor Diseases, Heidelberg, Germany., Mellqvist UH; Section of Hematology, Sahlgrenska University Hospital, Gothenburg, Sweden; and., Turesson I; Hematology and Transfusion Medicine, Department of Laboratory Medicine, Lund University, Lund, Sweden., Waage A; Department of Cancer Research and Molecular Medicine, Norwegian University of Science and Technology, Trondheim, Norway., Hemminki K; German Cancer Research Center, Heidelberg, Germany.; Center for Primary Health Care Research, Lund University, Malmö, Sweden., Golub T; Broad Institute, Cambridge, MA., Nahi H; Center for Hematology and Regenerative Medicine, Karolinska Institutet, Stockholm, Sweden., Gullberg U; Hematology and Transfusion Medicine, Department of Laboratory Medicine, Lund University, Lund, Sweden., Hansson M; Hematology and Transfusion Medicine, Department of Laboratory Medicine, Lund University, Lund, Sweden.; Hematology Clinic, Skåne University Hospital, Lund, Sweden., Nilsson B; Hematology and Transfusion Medicine, Department of Laboratory Medicine, Lund University, Lund, Sweden.; Broad Institute, Cambridge, MA.
Jazyk:	angličtina
Zdroj:	Blood advances [Blood Adv] 2017 Apr 07; Vol. 1 (10), pp. 619-623. Date of Electronic Publication: 2017 Apr 07 (Print Publication: 2017).
DOI:	10.1182/bloodadvances.2016003111
Abstrakt:	Although common risk alleles for multiple myeloma (MM) were recently identified, their contribution to familial MM is unknown. Analyzing 38 familial cases identified primarily by linking Swedish nationwide registries, we demonstrate an enrichment of common MM risk alleles in familial compared with 1530 sporadic cases ( P = 4.8 × 10 -2 and 6.0 × 10 -2 , respectively, for 2 different polygenic risk scores) and 10 171 population-based controls ( P = 1.5 × 10 -4 and 1.3 × 10 -4 , respectively). Using mixture modeling, we estimate that about one-third of familial cases result from such enrichments. Our results provide the first direct evidence for a polygenic etiology in a familial hematologic malignancy. Competing Interests: Conflict-of-interest disclosure: The authors declare no competing financial interests.
Databáze:	MEDLINE
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