Insight into genetic predisposition to chronic lymphocytic leukemia from integrative epigenomics

Autor: Helen E. Speedy, Renée Beekman, Vicente Chapaprieta, Giulia Orlando, Philip J. Law, David Martín-García, Jesús Gutiérrez-Abril, Daniel Catovsky, Sílvia Beà, Guillem Clot, Montserrat Puiggròs, David Torrents, Xose S. Puente, James M. Allan, Carlos López-Otín, Elias Campo, Richard S. Houlston, José I. Martín-Subero

Publikováno v: Nature Communications, Vol 10, Iss 1, Pp 1-9 (2019)

The definition of regulatory landscape at chronic lymphocytic leukaemia (CLL) risk loci is limited. Here, the authors perform an epigenomic characterisation of 42 known risk loci in CLL and normal B cells at different developmental stages and show ac

Externí odkaz: https://doaj.org/article/9b5b6327af3c440e9c59830da14206ad

Genetic Predisposition to Chronic Lymphocytic Leukemia Is Mediated by a BMF Super-Enhancer Polymorphism

Autor: Radhika Kandaswamy, Georgina P. Sava, Helen E. Speedy, Sílvia Beà, José I. Martín-Subero, James B. Studd, Gabriele Migliorini, Philip J. Law, Xose S. Puente, David Martín-García, Itziar Salaverria, Jesús Gutiérrez-Abril, Carlos López-Otín, Daniel Catovsky, James M. Allan, Elías Campo, Richard S. Houlston

Publikováno v: Cell Reports, Vol 16, Iss 8, Pp 2061-2067 (2016)

Chronic lymphocytic leukemia (CLL) is an adult B cell malignancy. Genome-wide association studies show that variation at 15q15.1 influences CLL risk. We deciphered the causal variant at 15q15.1 and the mechanism by which it influences tumorigenesis.

Externí odkaz: https://doaj.org/article/e91cfff18d49416982e8980133481082

Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk

Autor: Sebastiano Calandra, Patrizia Tarugi, Helen E. Speedy, Andrew F. Dean, Stefano Bertolini, Carol C. Shoulders

Publikováno v: Journal of Lipid Research, Vol 52, Iss 11, Pp 1885-1926 (2011)

This review integrates historical biochemical and modern genetic findings that underpin our understanding of the low-density lipoprotein (LDL) dyslipidemias that bear on human disease. These range from life-threatening conditions of infancy through s

Externí odkaz: https://doaj.org/article/004457eb37a7421e8f2b1c85c455dc17

Phenome-wide association analysis of LDL-cholesterol lowering genetic variants in PCSK9

Autor: Chris Finan, Yoav Ben-Shlomo, Eric B. Larson, Tine Jess, Richard W Morris, Daniel I. Chasman, Fernando Pires Hartwig, Catherine Welch, Rodney J. Scott, Helen E. Speedy, Andrzej Pajak, Raha Pazoki, André G. Uitterlinden, Torben Hansen, Marc Sanson, Hakon Hakonarson, Claudia Langenberg, Joey Ward, John Wright, Dorothée Thuillier, Ben Kinnersley, Diederick E. Grobbee, Yvonne T. van der Schouw, Pieter Sonneveld, Michiel L. Bots, Harold Snieder, Karim Labreche, Dan M. Roden, Archie Campbell, Melissa C. Smart, Christine Power, Pim van der Harst, Amélie Bonnefond, Ingrid E. Christophersen, Riyaz S. Patel, Uwe Völker, Stephen Hancock, Niels Grarup, Dennis O. Mook-Kanamori, Mariza de Andrade, Caroline Dale, N. Charlotte Onland-Moret, David R. Crosslin, Meena Kumari, Erik Ingelsson, Michael V. Holmes, Spiros Denaxas, Sudha Seshadri, Kees Hovingh, Marcus Dörr, Paul M. Ridker, Stefan Coassin, Albert Hofman, Andrew N. Nicolaides, Oluf Pedersen, Philippe Froguel, Simonetta Guarrera, Murray H. Brilliant, Sara E. Dobbins, Salim Yusuf, Kari Hemminki, Erik P A Van Iperen, Abbas Dehghan, Jill P. Pell, Alexander Teumer, Peter W. Schofield, Aroon D. Hingorani, Dan Mason, Amand F. Schmidt, Rui Bebiano Da Providencia E Costa, James M. Allan, Leslie A. Lange, Niels Weinhold, Stefan Gustafsson, Jackie F. Price, Mika Kivimäki, Hynek Pikhart, Kirchner H. Lester, Lars Lind, Philip J. Law, Cara L. Carty, David Preiss, Richard S. Houlston, Robin Young, Tom W. Meade, Martin O'Donnell, Alexander P. Reiner, Ni Li, Oscar H. Franco, Zammy Fairhurst-Hunter, Ronan Roussel, Tim Christen, Ilja Demuth, David Carrell, Catherine A. McCarty, Juan P. Casas, Johann Willeit, Peter H. Whincup, Stela McLachlan, Adelaida Sanchez-Galvez, Hartmut Goldschmidt, Guillaume Paré, Harry Hemingway, Anubha Mahajan, Elisabeth Steinhagen-Thiessen, Elizabeth G. Holliday, Giuseppe Matullo, Henry Völzke, Ian Ford, Martin Bobak, Pedro Marques-Vidal, Bertrand Cariou, Bernardo L. Horta, Melissa L. Bondy, Goya Wanamethee, Naveed Sattar, Steve E. Humphries, Marylyn D. Ritchie, Kristina Norman, Carlotta Sacerdote, Giovanni Fiorito, Sebastian E. Baumeister, Amit Sud, Dennis Valentine, Andreas Engert, Juri Demuth, Rupert Faraway, Abdonas Tamosiunas, Andrie G. Panayiotou, Terrie Kitchner, Lars Bertram, Sandosh Padmanabhan, Sofia Malyutina, Anke H. Maitland-van der Zee, Alex J. Cornish, Joshua C. Denny, Jian'an Luan, Robert A. Scott, Daniel I. Swerdlow, John Attia, Karin Willeit, Gareth J. Morgan, Michael Chong, Ruben N. Eppinga, Elina Hyppönen, Ekaterina V. Baranova, Jackie A. Cooper, Ghazaleh Fatemifar, Niek Verweij, Max Moldovan, Brendan J. Keating, M. Abdullah Said, Markus M. Lerch, Christina M. Lill, Markus Hansson, Jemma C. Hopewell, Björn Nilsson, Folkert W. Asselbergs, Ruzena Kubinova, Molly Went, Nicholas J. Wareham, Stefan Kiechl, Yanchun Bao, Allan Linneberg, Matthias Simon

Publikováno v: BMC Cardiovascular Disorders, 19(1). BMC
Schmidt, Amand F; Holmes, Michael V; Preiss, David; Swerdlow, Daniel I; Denaxas, Spiros; Fatemifar, Ghazaleh; Faraway, Rupert; Finan, Chris; Valentine, Dennis; Fairhurst-Hunter, Zammy; Hartwig, Fernando Pires; Horta, Bernardo Lessa; Hypponen, Elina; Power, Christine; Moldovan, Max; van Iperen, Erik; Hovingh, Kees; Demuth, Ilja; Norman, Kristina; Steinhagen-Thiessen, Elisabeth; ... (2019). Phenome-wide association analysis of LDL-cholesterol lowering genetic variants in PCSK9. BMC cardiovascular disorders, 19(1), p. 240. BioMed Central 10.1186/s12872-019-1187-z
BMC cardiovascular disorders, 19(1):240. BioMed Central
BMC cardiovascular disorders, London : BioMed Central, 2019, vol. 19, no. 1, 240, p. 1-10
BMC Cardiovascular Disorders
BMC Cardiovascular Disorders, 19(1). BioMed Central
BMC Cardiovascular Disorders, Vol 19, Iss 1, Pp 1-10 (2019)
Schmidt, A F, Holmes, M V, Preiss, D, Swerdlow, D I, Denaxas, S, Fatemifar, G, Faraway, R, Finan, C, Valentine, D, Fairhurst-Hunter, Z, McLachlan, S & Price, J 2019, ' Phenome-wide association analysis of LDL-cholesterol lowering genetic variants in PCSK9 ', Bmc cardiovascular disorders . https://doi.org/10.1186/s12872-019-1187-z
BMC Cardiovascular Disorders, 19(1):240. BioMed Central Ltd.
Schmidt, A F, Holmes, M V, Preiss, D, Swerdlow, D I, Denaxas, S, Fatemifar, G, Faraway, R, Finan, C, Valentine, D, Fairhurst-Hunter, Z, Hartwig, F P, Horta, B L, Hypponen, E, Power, C, Moldovan, M, Van Iperen, E, Hovingh, K, Demuth, I, Norman, K, Steinhagen-Thiessen, E, Demuth, J, Bertram, L, Lill, C M, Coassin, S, Willeit, J, Kiechl, S, Willeit, K, Mason, D, Wright, J, Morris, R, Wanamethee, G, Whincup, P, Ben-Shlomo, Y, McLachlan, S, Price, J F, Kivimaki, M, Welch, C, Sanchez-Galvez, A, Marques-Vidal, P, Nicolaides, A, Panayiotou, A G, Onland-Moret, N C, Van Der Schouw, Y T, Matullo, G, Fiorito, G, Guarrera, S, Sacerdote, C, Wareham, N J, Langenberg, C, Scott, R A, Luan, JA, Bobak, M, Malyutina, S, Pajak, A, Kubinova, R, Tamosiunas, A, Pikhart, H, Grarup, N, Pedersen, O, Hansen, T, Linneberg, A, Jess, T, Cooper, J, Humphries, S E, Brilliant, M, Kitchner, T, Hakonarson, H, Carrell, D S, McCarty, C A, Lester, K H, Larson, E B, Crosslin, D R, De Andrade, M, Roden, D M, Denny, J C, Carty, C, Hancock, S, Attia, J, Holliday, E, Scott, R, Schofield, P, O'Donnell, M, Yusuf, S, Chong, M, Pare, G, Van Der Harst, P, Said, M A, Eppinga, R N, Verweij, N, Snieder, H, Christen, T, Mook-Kanamori, D O, Gustafsson, S, Lind, L, Ingelsson, E, Pazoki, R, Franco, O, Hofman, A, Uitterlinden, A, Dehghan, A, Teumer, A, Baumeister, S, Dörr, M, Lerch, M M, Völker, U, Völzke, H, Ward, J, Pell, J P, Meade, T, Christophersen, I E, Maitland-Van Der Zee, A H, Baranova, E V, Young, R, Ford, I, Campbell, A, Padmanabhan, S, Bots, M L, Grobbee, D E, Froguel, P, Thuillier, D, Roussel, R, Bonnefond, A, Cariou, B, Smart, M, Bao, Y, Kumari, M, Mahajan, A, Hopewell, J C, Seshadri, S, Dale, C, Costa, R P E, Ridker, P M, Chasman, D I, Reiner, A P, Ritchie, M D, Lange, L A, Cornish, A J, Dobbins, S E, Hemminki, K, Kinnersley, B, Sanson, M, Labreche, K, Simon, M, Bondy, M, Law, P, Speedy, H, Allan, J, Li, N, Went, M, Weinhold, N, Morgan, G, Sonneveld, P, Nilsson, B, Goldschmidt, H, Sud, A, Engert, A, Hansson, M, Hemingway, H, Asselbergs, F W, Patel, R S, Keating, B J, Sattar, N, Houlston, R, Casas, J P & Hingorani, A D 2019, ' Phenome-wide association analysis of LDL-cholesterol lowering genetic variants in PCSK9 ', BMC Cardiovascular Disorders, vol. 19, no. 1, 240 . https://doi.org/10.1186/s12872-019-1187-z

BackgroundWe characterised the phenotypic consequence of genetic variation at the PCSK9 locus and compared findings with recent trials of pharmacological inhibitors of PCSK9.MethodsPublished and individual participant level data (300,000+ participant

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e8a7b3e5163aceb6019624e27507e6b
http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-401186

Etiology and Epidemiology of Chronic Lymphocytic Leukemia

Autor: Richard S. Houlston, Daniel Catovsky, Helen E. Speedy

Publikováno v: Neoplastic Diseases of the Blood ISBN: 9783319642628

Chronic lymphocytic leukemia (CLL) is an indolent malignancy resulting from an accumulation of CD5-positive neoplastic B-cells, which are characterized by a low rate of proliferation. Despite being the most common lymphoid malignancy in Western count

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6d497a2e28873d03429b14f1674ed1dd
https://doi.org/10.1007/978-3-319-64263-5_6