Genome-first approach of the prevalence and cancer phenotypes of pathogenic or likely pathogenic germline TP53 variants

Autor: Kelvin C. de Andrade, Natasha T. Strande, Jung Kim, Jeremy S. Haley, Jessica N. Hatton, Megan N. Frone, Payal P. Khincha, Gretchen M. Thone, Uyenlinh L. Mirshahi, Cynthia Schneider, Heena Desai, James T. Dove, Diane T. Smelser, Arnold J. Levine, Kara N. Maxwell, Douglas R. Stewart, David J. Carey, Sharon A. Savage

Publikováno v: HGG Advances, Vol 5, Iss 1, Pp 100242- (2024)

Summary: Pathogenic or likely pathogenic (P/LP) germline TP53 variants are the primary cause of Li-Fraumeni syndrome (LFS), a hereditary cancer predisposition disorder characterized by early-onset cancers. The population prevalence of P/LP germline T

Externí odkaz: https://doaj.org/article/addc5e489bb345e3861d80415655e2ce

Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure

Autor: Sonia Shah, Albert Henry, Carolina Roselli, Honghuang Lin, Garðar Sveinbjörnsson, Ghazaleh Fatemifar, Åsa K. Hedman, Jemma B. Wilk, Michael P. Morley, Mark D. Chaffin, Anna Helgadottir, Niek Verweij, Abbas Dehghan, Peter Almgren, Charlotte Andersson, Krishna G. Aragam, Johan Ärnlöv, Joshua D. Backman, Mary L. Biggs, Heather L. Bloom, Jeffrey Brandimarto, Michael R. Brown, Leonard Buckbinder, David J. Carey, Daniel I. Chasman, Xing Chen, Xu Chen, Jonathan Chung, William Chutkow, James P. Cook, Graciela E. Delgado, Spiros Denaxas, Alexander S. Doney, Marcus Dörr, Samuel C. Dudley, Michael E. Dunn, Gunnar Engström, Tõnu Esko, Stephan B. Felix, Chris Finan, Ian Ford, Mohsen Ghanbari, Sahar Ghasemi, Vilmantas Giedraitis, Franco Giulianini, John S. Gottdiener, Stefan Gross, Daníel F. Guðbjartsson, Rebecca Gutmann, Christopher M. Haggerty, Pim van der Harst, Craig L. Hyde, Erik Ingelsson, J. Wouter Jukema, Maryam Kavousi, Kay-Tee Khaw, Marcus E. Kleber, Lars Køber, Andrea Koekemoer, Claudia Langenberg, Lars Lind, Cecilia M. Lindgren, Barry London, Luca A. Lotta, Ruth C. Lovering, Jian’an Luan, Patrik Magnusson, Anubha Mahajan, Kenneth B. Margulies, Winfried März, Olle Melander, Ify R. Mordi, Thomas Morgan, Andrew D. Morris, Andrew P. Morris, Alanna C. Morrison, Michael W. Nagle, Christopher P. Nelson, Alexander Niessner, Teemu Niiranen, Michelle L. O’Donoghue, Anjali T. Owens, Colin N. A. Palmer, Helen M. Parry, Markus Perola, Eliana Portilla-Fernandez, Bruce M. Psaty, Regeneron Genetics Center, Kenneth M. Rice, Paul M. Ridker, Simon P. R. Romaine, Jerome I. Rotter, Perttu Salo, Veikko Salomaa, Jessica van Setten, Alaa A. Shalaby, Diane T. Smelser, Nicholas L. Smith, Steen Stender, David J. Stott, Per Svensson, Mari-Liis Tammesoo, Kent D. Taylor, Maris Teder-Laving, Alexander Teumer, Guðmundur Thorgeirsson, Unnur Thorsteinsdottir, Christian Torp-Pedersen, Stella Trompet, Benoit Tyl, Andre G. Uitterlinden, Abirami Veluchamy, Uwe Völker, Adriaan A. Voors, Xiaosong Wang, Nicholas J. Wareham, Dawn Waterworth, Peter E. Weeke, Raul Weiss, Kerri L. Wiggins, Heming Xing, Laura M. Yerges-Armstrong, Bing Yu, Faiez Zannad, Jing Hua Zhao, Harry Hemingway, Nilesh J. Samani, John J. V. McMurray, Jian Yang, Peter M. Visscher, Christopher Newton-Cheh, Anders Malarstig, Hilma Holm, Steven A. Lubitz, Naveed Sattar, Michael V. Holmes, Thomas P. Cappola, Folkert W. Asselbergs, Aroon D. Hingorani, Karoline Kuchenbaecker, Patrick T. Ellinor, Chim C. Lang, Kari Stefansson, J. Gustav Smith, Ramachandran S. Vasan, Daniel I. Swerdlow, R. Thomas Lumbers

Publikováno v: Nature Communications, Vol 11, Iss 1, Pp 1-12 (2020)

Heart failure is a complex syndrome that is associated with many different underlying risk factors. Here, to increase power, the authors jointly analyse cases of heart failure of different aetiologies in a genome-wide association study and identify 1

Externí odkaz: https://doaj.org/article/b5721b6147184dcfac6753b6e07e56dd

The genomics of heart failure: design and rationale of the HERMES consortium

Autor: Svati H. Shah, Olle Melander, Neneh Sallah, Quinn S. Wells, Jerome I. Rotter, Faye Zhao, Charlotte Andersson, Guðmundur Thorgeirsson, Ghazaleh Fatemifar, Alex S. F. Doney, Michael E. Dunn, David E. Lanfear, Ian Ford, Eric Boersma, Sonia Shah, Christopher Newton-Cheh, Douglas L. Mann, Niek Verweij, Carolina Roselli, Laura M. Yerges-Armstrong, Jian Yang, Christian Torp-Pedersen, Veikko Salomaa, Mary L. Biggs, Alaa Shalaby, Christoph Nowak, Stefan Gross, Patrick T. Ellinor, Mari Liis Tammesoo, Diane T. Smelser, Peter M. Visscher, Hans L. Hillege, Ruth C. Lovering, Honghuang Lin, Colin N. A. Palmer, Louis Philippe Lemieux Perreault, Jeffrey Brandimarto, Uwe Völker, Perttu Salo, Andrea Koekemoer, Rebecca Gutmann, Åsa K. Hedman, Nilesh J. Samani, Heming Xing, Faiez Zannad, Jaison Jacob, Harry Hemingway, Michael R. Brown, Franco Giulianini, Anubha Mahajan, Xing Chen, Alexander Niessner, Peter Almgren, Daniel I. Swerdlow, Gunnar Engström, Lars Lind, Tõnu Esko, Tomasz Czuba, Anna Helgadottir, Harvey D. White, David J. Stott, Johan Ärnlöv, Lars Køber, Chim C. Lang, Krishna G. Aragam, Kent D. Taylor, Anders Mälarstig, Frederick K. Kamanu, Kenneth B. Margulies, Michelle L. O'Donoghue, Andrew D. Morris, Sahar Ghasemi, J. Wouter Jukema, Jessica van Setten, Abbas Dehghan, Guillaume Paré, Luca A. Lotta, Giorgio E. M. Melloni, Albert Henry, Bruce M. Psaty, Paul M. Ridker, David J. Carey, Marie-Pierre Dubé, John S. Gottdiener, Xiaosong Wang, Per H. Svensson, Xu Chen, Patrik K. E. Magnusson, Claudia Langenberg, Alexander Teumer, Vilmantas Giedraitis, Simon de Denus, Michael W. Nagle, Marcus Dörr, Thomas P. Cappola, André G. Uitterlinden, Michael Morley, Eliana Portilla-Fernandez, J. Gustav Smith, Abirami Veluchamy, Peter Weeke, Ify R. Mordi, Unnur Thorsteinsdottir, Naveed Sattar, Folkert W. Asselbergs, Daniel I. Chasman, Daníel F. Guðbjartsson, Jonathan H. Chung, Marcus E. Kleber, Raul Weiss, Christopher P. Nelson, Spiros Denaxas, Bing Yu, Simon P. R. Romaine, Nicholas A Marston, Anjali T. Owens, Cecilia M. Lindgren, John J.V. McMurray, Joshua D. Backman, Michael V. Holmes, Stella Trompet, Hilma Holm, Kerri L. Wiggins, Jian'an Luan, Stephan B. Felix, Yifan Yang, Jemma B. Wilk, Maryam Kavousi, Markus Perola, Christian T. Ruff, Jean-Claude Tardif, G Sveinbjörnsson, Samuel C. Dudley, Nicholas J. Wareham, Teemu J. Niiranen, Andrew P. Morris, Danny Tuckwell, Maris Teder-Laving, R. Thomas Lumbers, James P. Cook, Géraldine Asselin, William A. Chutkow, Winfried März, Steven A. Lubitz, John G.F. Cleland, Bill Kraus, Ramachandran S. Vasan, Christopher M. Haggerty, Olympe Chazara, Chris Finan, Heather L. Bloom, Hans-Peter Brunner-La Rocca, Francoise Fougerousse, Kenneth Rice, Craig L. Hyde, Graciela E. Delgado, Mark Chaffin, Marc S. Sabatine, Alanna C. Morrison, Kay-Tee Khaw, Kari Stefansson, Felix Vaura, Barry London, Isabella Kardys, Aroon D. Hingorani, Hongsheng Gui, Steen Stender, René Fouodjio, Mohsen Ghanbari, Pim van der Harst, Nicholas L. Smith, Karoline Kuchenbaecker, Adriaan A. Voors, Benoit Tyl

Publikováno v: ESC Heart Failure
ESC Heart Failure, Wiley, 2021, ⟨10.1002/ehf2.13517⟩
2021, ' The genomics of heart failure : design and rationale of the HERMES consortium ', ESC heart failure . https://doi.org/10.1002/ehf2.13517
ESC Heart Failure. WILEY PERIODICALS, INC
ESC Heart Failure, 8(6), 5531-5541. WILEY PERIODICALS, INC
ESC heart failure, 8(6), 5531-5541. The Heart Failure Association of the European Society of Cardiology
ESC Heart Failure, 2021, ⟨10.1002/ehf2.13517⟩
Regeneron Genetics Center 2021, ' The genomics of heart failure : design and rationale of the HERMES consortium ', ESC heart failure, vol. 8, no. 6, pp. 5531-5541 . https://doi.org/10.1002/ehf2.13517
Esc heart failure, 8(6). John Wiley & Sons Inc.
Lumbers, R T, Shah, S, Lin, H, Czuba, T, Henry, A, Swerdlow, D I, Mälarstig, A, Andersson, C, Verweij, N, Holmes, M V, Ärnlöv, J, Svensson, P, Hemingway, H, Sallah, N, Almgren, P, Aragam, K G, Asselin, G, Backman, J D, Biggs, M L, Bloom, H L, Boersma, E, Brandimarto, J, Brown, M R, Brunner-La Rocca, H P, Carey, D J, Chaffin, M D, Chasman, D I, Chazara, O, Chen, X, Chen, X, Chung, J H, Chutkow, W, Cleland, J G F, Cook, J P, de Denus, S, Dehghan, A, Delgado, G E, Denaxas, S, Doney, A S, Dörr, M, Dudley, S C, Engström, G, Esko, T, Fatemifar, G, Felix, S B, Finan, C, Ford, I, Fougerousse, F, Fouodjio, R, Ghanbari, M, Ghasemi, S, Giedraitis, V, Giulianini, F, Gottdiener, J S, Gross, S, Guðbjartsson, D F, Gui, H, Gutmann, R, Haggerty, C M, van der Harst, P, Hedman, Å K, Helgadottir, A, Hillege, H, Hyde, C L, Jacob, J, Jukema, J W, Kamanu, F, Kardys, I, Kavousi, M, Khaw, K T, Kleber, M E, Køber, L, Koekemoer, A, Kraus, B, Kuchenbaecker, K, Langenberg, C, Lind, L, Lindgren, C M, London, B, Lotta, L A, Lovering, R C, Luan, J, Magnusson, P, Mahajan, A, Mann, D, Margulies, K B, Marston, N A, März, W, McMurray, J J V, Melander, O, Melloni, G, Mordi, I R, Morley, M P, Morris, A D, Morris, A P, Morrison, A C, Nagle, M W, Nelson, C P, Newton-Cheh, C, Niessner, A, Niiranen, T, Nowak, C, O'Donoghue, M L, Owens, A T, Palmer, C N A, Paré, G, Perola, M, Perreault, L P L, Portilla-Fernandez, E, Psaty, B M, Rice, K M, Ridker, P M, Romaine, S P R, Roselli, C, Rotter, J I, Ruff, C T, Sabatine, M S, Salo, P, Salomaa, V, van Setten, J, Shalaby, A A, Smelser, D T, Smith, N L, Stefansson, K, Stender, S, Stott, D J, Sveinbjörnsson, G, Tammesoo, M L, Tardif, J C, Taylor, K D, Teder-Laving, M, Teumer, A, Thorgeirsson, G, Thorsteinsdottir, U, Torp-Pedersen, C, Trompet, S, Tuckwell, D, Tyl, B, Uitterlinden, A G, Vaura, F, Veluchamy, A, Visscher, P M, Völker, U, Voors, A A, Wang, X, Wareham, N J, Weeke, P E, Weiss, R, White, H D, Wiggins, K L, Xing, H, Yang, J, Yang, Y, Yerges-Armstrong, L M, Yu, B, Zannad, F, Zhao, F, Regeneron Genetics Center, Wilk, J B, Holm, H, Sattar, N, Lubitz, S A, Lanfear, D E, Shah, S, Dunn, M E, Wells, Q S, Asselbergs, F W, Hingorani, A D, Dubé, M P, Samani, N J, Lang, C C, Cappola, T P, Ellinor, P T, Vasan, R S & Smith, J G 2021, ' The genomics of heart failure : design and rationale of the HERMES consortium ', ESC Heart Failure, vol. 8, no. 6, pp. 5531-5541 . https://doi.org/10.1002/ehf2.13517
ESC Heart Failure, Vol 8, Iss 6, Pp 5531-5541 (2021)

Aims The HERMES (HEart failure Molecular Epidemiology for Therapeutic targets) consortium aims to identify the genomic and molecular basis of heart failure.Methods and results The consortium currently includes 51 studies from 11 countries, including

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc41b40a62755853d7042fbc1dfd58a0
https://hal.univ-lorraine.fr/hal-03357134

Genetic risk models: Influence of model size on risk estimates and precision

Autor: Gerard Tromp, Michael B. Gorin, Yvette P. Conley, James R. Elmore, David J. Carey, Ying Shan, Daniel E. Weeks, Shefali S. Verma, Marylyn D. Ritchie, Helena Kuivaniemi, Diane T. Smelser

Publikováno v: Genetic Epidemiology. 41:282-296

Disease risk estimation plays an important role in disease prevention. Many studies have found that the ability to predict risk improves as the number of risk single-nucleotide polymorphisms (SNPs) in the risk model increases. However, the width of t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4009dcc95cdea10e2463b57e6f0842c5
https://doi.org/10.1002/gepi.22035

Rare-variant pathogenicity triage and inclusion of synonymous variants improves analysis of disease associations of orphan G protein–coupled receptors

Autor: David J. Carey, Kirk Jeffreys, Raghu Metpally, Janet D. Robishaw, Sarathbabu Krishnamurthy, Michal Hershfinkel, Ridge Dershem, Gerda E. Breitwieser, Diane T. Smelser

Publikováno v: J Biol Chem

The pace of deorphanization of G protein–coupled receptors (GPCRs) has slowed, and new approaches are required. Small molecule targeting of orphan GPCRs can potentially be of clinical benefit even if the endogenous receptor ligand has not been iden

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::caf5f583e404ec5a752bed7c4e50d52d
https://europepmc.org/articles/PMC6885620/