Sökning: onr:"swepub:oai:DiVA.org:uu-397756" > Genetic predisposit...
Fältnamn | Indikatorer | Metadata |
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000 | 05503naa a2200937 4500 | |
001 | oai:DiVA.org:uu-397756 | |
003 | SwePub | |
008 | 191125s2019 | |||||||||||000 ||eng| | |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-3977562 URI |
024 | 7 | a https://doi.org/10.1038/s41586-019-1765-32 DOI |
040 | a (SwePub)uu | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Thompson, Deborah J4 aut |
245 | 1 0 | a Genetic predisposition to mosaic Y chromosome loss in blood |
264 | c 2019-11-20 | |
264 | 1 | b Springer Science and Business Media LLC,c 2019 |
338 | a print2 rdacarrier | |
500 | a Lars Forsberg and John Perry contributed equally to this work | |
520 | a Mosaic loss of chromosome Y (LOY) in circulating white blood cells is the most common form of clonal mosaicism1-5, yet our knowledge of the causes and consequences of this is limited. Here, using a computational approach, we estimate that 20% of the male population represented in the UK Biobank study (n = 205,011) has detectable LOY. We identify 156 autosomal genetic determinants of LOY, which we replicate in 757,114 men of European and Japanese ancestry. These loci highlight genes that are involved in cell-cycle regulation and cancer susceptibility, as well as somatic drivers of tumour growth and targets of cancer therapy. We demonstrate that genetic susceptibility to LOY is associated with non-haematological effects on health in both men and women, which supports the hypothesis that clonal haematopoiesis is a biomarker of genomic instability in other tissues. Single-cell RNA sequencing identifies dysregulated expression of autosomal genes in leukocytes with LOY and provides insights into why clonal expansion of these cells may occur. Collectively, these data highlight the value of studying clonal mosaicism to uncover fundamental mechanisms that underlie cancer and other ageing-related diseases. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng |
653 | a Medicinsk genetik | |
653 | a Medical Genetics | |
700 | 1 | a Genovese, Giulio4 aut |
700 | 1 | a Halvardson, Jonatan,d 1982-u Uppsala universitet,Science for Life Laboratory, SciLifeLab,Medicinsk genetik och genomik,Lars Forsberg4 aut0 (Swepub:uu)jonha894 |
700 | 1 | a Ulirsch, Jacob C4 aut |
700 | 1 | a Wright, Daniel J4 aut |
700 | 1 | a Terao, Chikashi4 aut |
700 | 1 | a Davidsson, Olafur B4 aut |
700 | 1 | a Day, Felix R4 aut |
700 | 1 | a Sulem, Patrick4 aut |
700 | 1 | a Jiang, Yunxuan4 aut |
700 | 1 | a Danielsson, Marcusu Uppsala universitet,Medicinsk genetik och genomik,Science for Life Laboratory, SciLifeLab,Lars Forsberg4 aut0 (Swepub:uu)marda231 |
700 | 1 | a Davies, Hannau Uppsala universitet,Science for Life Laboratory, SciLifeLab,Medicinsk genetik och genomik4 aut0 (Swepub:uu)handa349 |
700 | 1 | a Dennis, Joe4 aut |
700 | 1 | a Dunlop, Malcolm G4 aut |
700 | 1 | a Easton, Douglas F4 aut |
700 | 1 | a Fisher, Victoria A4 aut |
700 | 1 | a Zink, Florian4 aut |
700 | 1 | a Houlston, Richard S4 aut |
700 | 1 | a Ingelsson, Martinu Uppsala universitet,Geriatrik4 aut0 (Swepub:uu)maing121 |
700 | 1 | a Kar, Siddhartha4 aut |
700 | 1 | a Kerrison, Nicola D4 aut |
700 | 1 | a Kinnersley, Ben4 aut |
700 | 1 | a Kristjansson, Ragnar P4 aut |
700 | 1 | a Law, Philip J4 aut |
700 | 1 | a Li, Rong4 aut |
700 | 1 | a Loveday, Chey4 aut |
700 | 1 | a Mattisson, Jonasu Uppsala universitet,Medicinsk genetik och genomik,Science for Life Laboratory, SciLifeLab,Lars Forsberg4 aut0 (Swepub:uu)jonma819 |
700 | 1 | a McCarroll, Steven A4 aut |
700 | 1 | a Murakami, Yoshinori4 aut |
700 | 1 | a Murray, Anna4 aut |
700 | 1 | a Olszewski, Pawel4 aut |
700 | 1 | a Rychlicka-Buniowska, Edyta4 aut |
700 | 1 | a Scott, Robert A4 aut |
700 | 1 | a Thorsteinsdottir, Unnur4 aut |
700 | 1 | a Tomlinson, Ian4 aut |
700 | 1 | a Moghadam, Behrooz Torabiu Uppsala universitet,Science for Life Laboratory, SciLifeLab,Medicinsk genetik och genomik4 aut0 (Swepub:uu)behto381 |
700 | 1 | a Turnbull, Clare4 aut |
700 | 1 | a Wareham, Nicholas J4 aut |
700 | 1 | a Gudbjartsson, Daniel F4 aut |
700 | 1 | a Kamatani, Yoichiro4 aut |
700 | 1 | a Hoffmann, Eva R4 aut |
700 | 1 | a Jackson, Steve P4 aut |
700 | 1 | a Stefansson, Kari4 aut |
700 | 1 | a Auton, Adam4 aut |
700 | 1 | a Ong, Ken K4 aut |
700 | 1 | a Machiela, Mitchell J4 aut |
700 | 1 | a Loh, Po-Ru4 aut |
700 | 1 | a Dumanski, Jan P.u Uppsala universitet,Science for Life Laboratory, SciLifeLab,Medicinsk genetik och genomik4 aut0 (Swepub:uu)janduman |
700 | 1 | a Chanock, Stephen J4 aut |
700 | 1 | a Forsberg, Lars A.,d 1974-u Uppsala universitet,Science for Life Laboratory, SciLifeLab,Medicinsk genetik och genomik4 aut0 (Swepub:uu)larfo354 |
700 | 1 | a Perry, John R B,d 1974-4 aut |
710 | 2 | a Uppsala universitetb Science for Life Laboratory, SciLifeLab4 org |
773 | 0 | t Natured : Springer Science and Business Media LLCg 575, s. 652-657q 575<652-657x 0028-0836x 1476-4687 |
856 | 4 | u https://europepmc.org/articles/pmc6887549?pdf=render |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-397756 |
856 | 4 8 | u https://doi.org/10.1038/s41586-019-1765-3 |
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