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LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00006468naa a2200805 4500
001oai:lup.lub.lu.se:178a0b4b-70ee-43fe-a5f7-a3b566af6920
003SwePub
008170303s2017 | |||||||||||000 ||eng|
0247 a https://lup.lub.lu.se/record/178a0b4b-70ee-43fe-a5f7-a3b566af69202 URI
0247 a https://doi.org/10.1038/srep410712 DOI
040 a (SwePub)lu
041 a engb eng
042 9 SwePub
072 7a art2 swepub-publicationtype
072 7a ref2 swepub-contenttype
1001 a Law, Philip J.u Institute of Cancer Research London4 aut
2451 0a Genome-wide association analysis of chronic lymphocytic leukaemia, Hodgkin lymphoma and multiple myeloma identifies pleiotropic risk loci
264 c 2017-01-23
264 1b Springer Science and Business Media LLC,c 2017
520 a B-cell malignancies (BCM) originate from the same cell of origin, but at different maturation stages and have distinct clinical phenotypes. Although genetic risk variants for individual BCMs have been identified, an agnostic, genome-wide search for shared genetic susceptibility has not been performed. We explored genome-wide association studies of chronic lymphocytic leukaemia (CLL, N = 1,842), Hodgkin lymphoma (HL, N = 1,465) and multiple myeloma (MM, N = 3,790). We identified a novel pleiotropic risk locus at 3q22.2 (NCK1, rs11715604, P = 1.60 × 10-9) with opposing effects between CLL (P = 1.97 × 10-8) and HL (P = 3.31 × 10-3). Eight established non-HLA risk loci showed pleiotropic associations. Within the HLA region, Ser37 + Phe37 in HLA-DRB1 (P = 1.84 × 10-12) was associated with increased CLL and HL risk (P = 4.68 × 10-12), and reduced MM risk (P = 1.12 × 10-2), and Gly70 in HLA-DQB1 (P = 3.15 × 10-10) showed opposing effects between CLL (P = 3.52 × 10-3) and HL (P = 3.41 × 10-9). By integrating eQTL, Hi-C and ChIP-seq data, we show that the pleiotropic risk loci are enriched for B-cell regulatory elements, as well as an over-representation of binding of key B-cell transcription factors. These data identify shared biological pathways influencing the development of CLL, HL and MM. The identification of these risk loci furthers our understanding of the aetiological basis of BCMs.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Cancer och onkologi0 (SwePub)302032 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Cancer and Oncology0 (SwePub)302032 hsv//eng
650 7a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
7001 a Sud, Amitu Institute of Cancer Research London4 aut0 (Swepub:lu)am6750su
7001 a Mitchell, Jonathan Su Institute of Cancer Research London4 aut
7001 a Henrion, Marcu Institute of Cancer Research London4 aut
7001 a Orlando, Giuliau Institute of Cancer Research London4 aut
7001 a Lenive, Olegu Institute of Cancer Research London4 aut
7001 a Broderick, Peteru Institute of Cancer Research London4 aut
7001 a Speedy, Helen Eu Institute of Cancer Research London4 aut
7001 a Johnson, David C.u Institute of Cancer Research London4 aut
7001 a Kaiser, Martinu Institute of Cancer Research London4 aut
7001 a Weinhold, Nielsu University of Arkansas for Medical Sciences4 aut
7001 a Cooke, Rosieu Institute of Cancer Research London4 aut
7001 a Sunter, Nicola J.u University of Newcastle upon Tyne4 aut
7001 a Jackson, Graham H.u Royal Victoria Infirmary4 aut
7001 a Summerfield, Geoffreyu Queen Elizabeth Hospital, Gateshead4 aut
7001 a Harris, Robert J.u University of Liverpool4 aut
7001 a Pettitt, Andrew R.u University of Liverpool4 aut
7001 a Allsup, David J.u Castle Hill Hospital4 aut
7001 a Carmichael, Jonathanu Castle Hill Hospital4 aut
7001 a Bailey, James R.u Castle Hill Hospital4 aut
7001 a Pratt, Guyu Birmingham Heartlands Hospital4 aut
7001 a Rahman, Thahirau University of Newcastle upon Tyne4 aut
7001 a Pepper, Chrisu Cardiff University4 aut
7001 a Fegan, Chrisu Cardiff and Vale University Health Board4 aut
7001 a von Strandmann, Elke Poggeu University Hospital of Cologne4 aut
7001 a Engert, Andreasu University Hospital of Cologne4 aut
7001 a Försti, Astau Lund University,Lunds universitet,Allmänmedicin och klinisk epidemiologi,Forskargrupper vid Lunds universitet,Family Medicine and Clinical Epidemiology,Lund University Research Groups,German Cancer Research Centre4 aut0 (Swepub:lu)med-asf
7001 a Chen, Bowangu German Cancer Research Centre4 aut0 (Swepub:lu)med-bgc
7001 a Filho, Miguel Inacio da Silvau German Cancer Research Centre4 aut
7001 a Thomsen, Haukeu German Cancer Research Centre4 aut0 (Swepub:lu)med-hth
7001 a Hoffmann, Peru University of Basel,University of Bonn4 aut
7001 a Noethen, Markus M.u University of Bonn4 aut
7001 a Eisele, Lewinu University of Duisburg-Essen4 aut
7001 a Jöckel, Karl-Heinzu University of Duisburg-Essen4 aut
7001 a Allan, James M.u University of Newcastle upon Tyne4 aut
7001 a Swerdlow, Anthony Ju Institute of Cancer Research London4 aut
7001 a Goldschmidt, Hartmutu Heidelberg University,National Centre of Tumor Diseases4 aut
7001 a Catovsky, Danielu Institute of Cancer Research London4 aut
7001 a Morgan, Gareth J.u University of Arkansas for Medical Sciences4 aut
7001 a Hemminki, Kariu Lund University,Lunds universitet,Allmänmedicin och klinisk epidemiologi,Forskargrupper vid Lunds universitet,Family Medicine and Clinical Epidemiology,Lund University Research Groups,German Cancer Research Centre4 aut0 (Swepub:lu)med-khk
7001 a Houlston, Richard S.u Institute of Cancer Research London4 aut
7102 a Institute of Cancer Research Londonb University of Arkansas for Medical Sciences4 org
7730 t Scientific Reportsd : Springer Science and Business Media LLCg 7q 7x 2045-2322
8564 u http://dx.doi.org/10.1038/srep41071x freey FULLTEXT
8564 u https://www.nature.com/articles/srep41071.pdf
8564 8u https://lup.lub.lu.se/record/178a0b4b-70ee-43fe-a5f7-a3b566af6920
8564 8u https://doi.org/10.1038/srep41071

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