Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma
| Autor: | Went, Molly, Sud, Amit, Försti, Asta, Halvarsson, Britt-Marie, Weinhold, Niels, Kimber, Scott, Van Duin, Mark, Thorleifsson, Gudmar, Holroyd, Amy, Johnson, David C, Li, Ni, Orlando, Giulia, Law, Philip J, Ali, Mina, Chen, Bowang, Mitchell, Jonathan S, Gudbjartsson, Daniel F, Kuiper, Rowan, Stephens, Owen W, Bertsch, Uta, Broderick, Peter, Campo, Chiara, Bandapalli, Obul R, Einsele, Hermann, Gregory, Walter A, Gullberg, Urban, Hillengass, Jens, Hoffmann, Per, Jackson, Graham H, Jöckel, Karl-Heinz, Johnsson, Ellinor, Kristinsson, Sigurður Y, Mellqvist, Ulf-Henrik, Nahi, Hareth, Easton, Douglas, Pharoah, Paul, Dunning, Alison, Peto, Julian, Canzian, Federico, Swerdlow, Anthony, Eeles, Rosalind A, Kote-Jarai, ZSofia, Muir, Kenneth, Pashayan, Nora, Nickel, Jolanta, Nöthen, Markus M, Rafnar, Thorunn, Ross, Fiona M, Da Silva Filho, Miguel Inacio, Thomsen, Hauke, Turesson, Ingemar, Vangsted, Annette, Andersen, Niels Frost, Waage, Anders, Walker, Brian A, Wihlborg, Anna-Karin, Broyl, Annemiek, Davies, Faith E, Thorsteinsdottir, Unnur, Langer, Christian, Hansson, Markus, Goldschmidt, Hartmut, Kaiser, Martin, Sonneveld, Pieter, Stefansson, Kari, Morgan, Gareth J, Hemminki, Kari, Nilsson, Björn, Houlston, Richard S, PRACTICAL Consortium |
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| Přispěvatelé: | Sud, Amit [0000-0002-6133-0164], Johnson, David C [0000-0003-0887-3343], Law, Philip J [0000-0001-9663-4611], Gudbjartsson, Daniel F [0000-0002-5222-9857], Broderick, Peter [0000-0002-8348-5829], Bandapalli, Obul R [0000-0002-1132-1745], Easton, Douglas [0000-0003-2444-3247], Pharoah, Paul [0000-0001-8494-732X], Canzian, Federico [0000-0002-4261-4583], Eeles, Rosalind A [0000-0002-3698-6241], Muir, Kenneth [0000-0001-6429-988X], Pashayan, Nora [0000-0003-0843-2468], Hansson, Markus [0000-0002-7715-4548], Houlston, Richard S [0000-0002-5268-0242], Apollo - University of Cambridge Repository |
| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: |
Male
Quality Control Risk Chromatin Immunoprecipitation Genotype Science Quantitative Trait Loci Bayes Theorem Polymorphism Single Nucleotide Chromatin White People Gene Expression Regulation Humans lcsh:Q Female Genetic Predisposition to Disease lcsh:Science Multiple Myeloma Promoter Regions Genetic Genome-Wide Association Study |
| Zdroj: | Nature Communications, Vol 9, Iss 1, Pp 1-10 (2018) |
| ISSN: | 2041-1723 |
| Popis: | Genome-wide association studies (GWAS) have transformed our understanding of susceptibility to multiple myeloma (MM), but much of the heritability remains unexplained. We report a new GWAS, a meta-analysis with previous GWAS and a replication series, totalling 9974 MM cases and 247,556 controls of European ancestry. Collectively, these data provide evidence for six new MM risk loci, bringing the total number to 23. Integration of information from gene expression, epigenetic profiling and in situ Hi-C data for the 23 risk loci implicate disruption of developmental transcriptional regulators as a basis of MM susceptibility, compatible with altered B-cell differentiation as a key mechanism. Dysregulation of autophagy/apoptosis and cell cycle signalling feature as recurrently perturbed pathways. Our findings provide further insight into the biological basis of MM. |
| Databáze: | OpenAIRE |
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