Literature DB >> 34995138

Somatic Mutations in Cardiovascular Disease.

J Brett Heimlich1, Alexander G Bick2.   

Abstract

Advances in population-scale genomic sequencing have greatly expanded the understanding of the inherited basis of cardiovascular disease (CVD). Reanalysis of these genomic datasets identified an unexpected risk factor for CVD, somatically acquired DNA mutations. In this review, we provide an overview of somatic mutations and their contributions to CVD. We focus on the most common and well-described manifestation, clonal hematopoiesis of indeterminate potential. We also review the currently available data regarding how somatic mutations lead to tissue mosaicism in various forms of CVD, including atrial fibrillation and aortic aneurism associated with Marfan Syndrome. Finally, we highlight future research directions given current knowledge gaps and consider how technological advances will enhance the discovery of somatic mutations in CVD and management of patients with somatic mutations.

Entities:  

Keywords:  cardiovascular diseases; clonal hematopoiesis; coronary artery disease; genomics; mutation

Mesh:

Year:  2022        PMID: 34995138      PMCID: PMC8827644          DOI: 10.1161/CIRCRESAHA.121.319809

Source DB:  PubMed          Journal:  Circ Res        ISSN: 0009-7330            Impact factor:   17.367


  114 in total

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Authors:  Diala El Husseini; Marie-Chloé Boulanger; Ablajan Mahmut; Rihab Bouchareb; Marie-Hélène Laflamme; Dominique Fournier; Philippe Pibarot; Yohan Bossé; Patrick Mathieu
Journal:  J Mol Cell Cardiol       Date:  2014-03-11       Impact factor: 5.000

2.  A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera.

Authors:  Chloé James; Valérie Ugo; Jean-Pierre Le Couédic; Judith Staerk; François Delhommeau; Catherine Lacout; Loïc Garçon; Hana Raslova; Roland Berger; Annelise Bennaceur-Griscelli; Jean Luc Villeval; Stefan N Constantinescu; Nicole Casadevall; William Vainchenker
Journal:  Nature       Date:  2005-04-28       Impact factor: 49.962

3.  Cancer etiology. Variation in cancer risk among tissues can be explained by the number of stem cell divisions.

Authors:  Cristian Tomasetti; Bert Vogelstein
Journal:  Science       Date:  2015-01-02       Impact factor: 47.728

4.  Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence.

Authors:  Giulio Genovese; Anna K Kähler; Robert E Handsaker; Johan Lindberg; Samuel A Rose; Samuel F Bakhoum; Kimberly Chambert; Eran Mick; Benjamin M Neale; Menachem Fromer; Shaun M Purcell; Oscar Svantesson; Mikael Landén; Martin Höglund; Sören Lehmann; Stacey B Gabriel; Jennifer L Moran; Eric S Lander; Patrick F Sullivan; Pamela Sklar; Henrik Grönberg; Christina M Hultman; Steven A McCarroll
Journal:  N Engl J Med       Date:  2014-11-26       Impact factor: 91.245

5.  Atrial Fibrillation Is a Complex Trait: Very Complex.

Authors:  M Benjamin Shoemaker; Dan M Roden
Journal:  Circ Res       Date:  2020-07-02       Impact factor: 17.367

6.  Predictive Accuracy of a Clinical and Genetic Risk Model for Atrial Fibrillation.

Authors:  Shaan Khurshid; Nina Mars; Christopher M Haggerty; Qiuxi Huang; Lu-Chen Weng; Dustin N Hartzel; Kathryn L Lunetta; Jeffrey M Ashburner; Christopher D Anderson; Emelia J Benjamin; Veikko Salomaa; Patrick T Ellinor; Brandon K Fornwalt; Samuli Ripatti; Ludovic Trinquart; Steven A Lubitz
Journal:  Circ Genom Precis Med       Date:  2021-08-31

Review 7.  A systematic study and literature review of parental somatic mosaicism of FBN1 pathogenic variants in Marfan syndrome.

Authors:  Paula Fernández-Álvarez; Marta Codina-Sola; Irene Valenzuela; Gisela Teixidó-Turá; Anna Cueto-González; Ida Paramonov; María Antolín; Fermina López-Grondona; Teresa Vendrell; Artur Evangelista; Elena García-Arumí; Eduardo F Tizzano
Journal:  J Med Genet       Date:  2021-04-28       Impact factor: 6.318

Review 8.  Clonal Hematopoiesis with Oncogenic Potential (CHOP): Separation from CHIP and Roads to AML.

Authors:  Peter Valent; Wolfgang Kern; Gregor Hoermann; Jelena D Milosevic Feenstra; Karl Sotlar; Michael Pfeilstöcker; Ulrich Germing; Wolfgang R Sperr; Andreas Reiter; Dominik Wolf; Michel Arock; Torsten Haferlach; Hans-Peter Horny
Journal:  Int J Mol Sci       Date:  2019-02-12       Impact factor: 5.923

9.  Unsuspected somatic mosaicism for FBN1 gene contributes to Marfan syndrome.

Authors:  Pauline Arnaud; Hélène Morel; Catherine Boileau; Nadine Hanna; Olivier Milleron; Laurent Gouya; Christine Francannet; Antoine Da Costa; Carine Le Goff; Guillaume Jondeau
Journal:  Genet Med       Date:  2021-01-25       Impact factor: 8.822

10.  Detectable clonal mosaicism from birth to old age and its relationship to cancer.

Authors:  Cathy C Laurie; Cecelia A Laurie; Kenneth Rice; Kimberly F Doheny; Leila R Zelnick; Caitlin P McHugh; Hua Ling; Kurt N Hetrick; Elizabeth W Pugh; Chris Amos; Qingyi Wei; Li-e Wang; Jeffrey E Lee; Kathleen C Barnes; Nadia N Hansel; Rasika Mathias; Denise Daley; Terri H Beaty; Alan F Scott; Ingo Ruczinski; Rob B Scharpf; Laura J Bierut; Sarah M Hartz; Maria Teresa Landi; Neal D Freedman; Lynn R Goldin; David Ginsburg; Jun Li; Karl C Desch; Sara S Strom; William J Blot; Lisa B Signorello; Sue A Ingles; Stephen J Chanock; Sonja I Berndt; Loic Le Marchand; Brian E Henderson; Kristine R Monroe; John A Heit; Mariza de Andrade; Sebastian M Armasu; Cynthia Regnier; William L Lowe; M Geoffrey Hayes; Mary L Marazita; Eleanor Feingold; Jeffrey C Murray; Mads Melbye; Bjarke Feenstra; Jae H Kang; Janey L Wiggs; Gail P Jarvik; Andrew N McDavid; Venkatraman E Seshan; Daniel B Mirel; Andrew Crenshaw; Nataliya Sharopova; Anastasia Wise; Jess Shen; David R Crosslin; David M Levine; Xiuwen Zheng; Jenna I Udren; Siiri Bennett; Sarah C Nelson; Stephanie M Gogarten; Matthew P Conomos; Patrick Heagerty; Teri Manolio; Louis R Pasquale; Christopher A Haiman; Neil Caporaso; Bruce S Weir
Journal:  Nat Genet       Date:  2012-05-06       Impact factor: 38.330

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  4 in total

Review 1.  Sex Differences in Myocardial and Vascular Aging.

Authors:  Hongwei Ji; Alan C Kwan; Melanie T Chen; David Ouyang; Joseph E Ebinger; Susan P Bell; Teemu J Niiranen; Natalie A Bello; Susan Cheng
Journal:  Circ Res       Date:  2022-02-17       Impact factor: 17.367

Review 2.  Circulating Monocyte Subsets and Transcatheter Aortic Valve Replacement.

Authors:  Fanny Lassalle; Mickael Rosa; Bart Staels; Eric Van Belle; Sophie Susen; Annabelle Dupont
Journal:  Int J Mol Sci       Date:  2022-05-10       Impact factor: 6.208

Review 3.  Increasing Complexity of Molecular Landscapes in Human Hematopoietic Stem and Progenitor Cells during Development and Aging.

Authors:  Suzanne M Watt; Peng Hua; Irene Roberts
Journal:  Int J Mol Sci       Date:  2022-03-27       Impact factor: 5.923

Review 4.  Roles of Epigenetics in Cardiac Fibroblast Activation and Fibrosis.

Authors:  Jingrong Shao; Jiao Liu; Shengkai Zuo
Journal:  Cells       Date:  2022-07-30       Impact factor: 7.666

  4 in total

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