Literature DB >> 28536780

[Genetic testing in polygenic diseases : Atrial fibrillation, arterial hypertension and coronary artery disease].

T Trenkwalder1, T Kessler2, H Schunkert1,3.   

Abstract

Genetic testing plays an increasing role in cardiovascular medicine. Advances in technology and the development of novel and more affordable (high throughput) methods have led to the identification of genetic risk factors in research and clinical practice. Also, this progress has simplified the screening of patients and individuals at risk. In case of rare monogenic diseases, diagnostics, risk stratification, and, in some cases, treatment decisions have become easier. For common, polygenic cardiovascular diseases, the situation is more complex due to interaction of modifiable external risk factors and nonmodifiable factors like genetic predisposition. Over the last few years, it has been shown that multiple genes are involved in the pathophysiology of these cardiovascular diseases rather than one single gene. In the following article, we give an overview of the genetic risk factors in polygenic cardiovascular diseases as atrial fibrillation, arterial hypertension and coronary artery disease. Furthermore, we aim to illustrate in which cases genetic testing is recommended in these diseases.

Entities:  

Keywords:  Coronary artery disease; Familial atrial fibrillation; Familial hypercholesterolemia; Genetic testing; Monogenic hypertension

Mesh:

Year:  2017        PMID: 28536780     DOI: 10.1007/s00059-017-4576-z

Source DB:  PubMed          Journal:  Herz        ISSN: 0340-9937            Impact factor:   1.443


  53 in total

1.  Validation of the Framingham coronary heart disease prediction scores: results of a multiple ethnic groups investigation.

Authors:  R B D'Agostino; S Grundy; L M Sullivan; P Wilson
Journal:  JAMA       Date:  2001-07-11       Impact factor: 56.272

2.  Pitx2c and Nkx2-5 are required for the formation and identity of the pulmonary myocardium.

Authors:  Mathilda T M Mommersteeg; Nigel A Brown; Owen W J Prall; Corrie de Gier-de Vries; Richard P Harvey; Antoon F M Moorman; Vincent M Christoffels
Journal:  Circ Res       Date:  2007-09-06       Impact factor: 17.367

Review 3.  Genetics of atrial fibrillation: from families to genomes.

Authors:  Ingrid E Christophersen; Patrick T Ellinor
Journal:  J Hum Genet       Date:  2015-05-21       Impact factor: 3.172

Review 4.  Atrial fibrillation: the role of common and rare genetic variants.

Authors:  Morten S Olesen; Morten W Nielsen; Stig Haunsø; Jesper H Svendsen
Journal:  Eur J Hum Genet       Date:  2013-07-10       Impact factor: 4.246

5.  Elevated blood pressures in mice lacking endothelial nitric oxide synthase.

Authors:  E G Shesely; N Maeda; H S Kim; K M Desai; J H Krege; V E Laubach; P A Sherman; W C Sessa; O Smithies
Journal:  Proc Natl Acad Sci U S A       Date:  1996-11-12       Impact factor: 11.205

6.  Mutations in PCSK9 cause autosomal dominant hypercholesterolemia.

Authors:  Marianne Abifadel; Mathilde Varret; Jean-Pierre Rabès; Delphine Allard; Khadija Ouguerram; Martine Devillers; Corinne Cruaud; Suzanne Benjannet; Louise Wickham; Danièle Erlich; Aurélie Derré; Ludovic Villéger; Michel Farnier; Isabel Beucler; Eric Bruckert; Jean Chambaz; Bernard Chanu; Jean-Michel Lecerf; Gerald Luc; Philippe Moulin; Jean Weissenbach; Annick Prat; Michel Krempf; Claudine Junien; Nabil G Seidah; Catherine Boileau
Journal:  Nat Genet       Date:  2003-06       Impact factor: 38.330

7.  Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.

Authors:  Sekar Kathiresan; Olle Melander; Candace Guiducci; Aarti Surti; Noël P Burtt; Mark J Rieder; Gregory M Cooper; Charlotta Roos; Benjamin F Voight; Aki S Havulinna; Björn Wahlstrand; Thomas Hedner; Dolores Corella; E Shyong Tai; Jose M Ordovas; Göran Berglund; Erkki Vartiainen; Pekka Jousilahti; Bo Hedblad; Marja-Riitta Taskinen; Christopher Newton-Cheh; Veikko Salomaa; Leena Peltonen; Leif Groop; David M Altshuler; Marju Orho-Melander
Journal:  Nat Genet       Date:  2008-01-13       Impact factor: 38.330

8.  Familial atrial fibrillation is a genetically heterogeneous disorder.

Authors:  Dawood Darbar; Kathleen J Herron; Jeffrey D Ballew; Arshad Jahangir; Bernard J Gersh; Win-K Shen; Stephen C Hammill; Douglas L Packer; Timothy M Olson
Journal:  J Am Coll Cardiol       Date:  2003-06-18       Impact factor: 24.094

9.  Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.

Authors:  Heribert Schunkert; Inke R König; Sekar Kathiresan; Muredach P Reilly; Themistocles L Assimes; Hilma Holm; Michael Preuss; Alexandre F R Stewart; Maja Barbalic; Christian Gieger; Devin Absher; Zouhair Aherrahrou; Hooman Allayee; David Altshuler; Sonia S Anand; Karl Andersen; Jeffrey L Anderson; Diego Ardissino; Stephen G Ball; Anthony J Balmforth; Timothy A Barnes; Diane M Becker; Lewis C Becker; Klaus Berger; Joshua C Bis; S Matthijs Boekholdt; Eric Boerwinkle; Peter S Braund; Morris J Brown; Mary Susan Burnett; Ian Buysschaert; John F Carlquist; Li Chen; Sven Cichon; Veryan Codd; Robert W Davies; George Dedoussis; Abbas Dehghan; Serkalem Demissie; Joseph M Devaney; Patrick Diemert; Ron Do; Angela Doering; Sandra Eifert; Nour Eddine El Mokhtari; Stephen G Ellis; Roberto Elosua; James C Engert; Stephen E Epstein; Ulf de Faire; Marcus Fischer; Aaron R Folsom; Jennifer Freyer; Bruna Gigante; Domenico Girelli; Solveig Gretarsdottir; Vilmundur Gudnason; Jeffrey R Gulcher; Eran Halperin; Naomi Hammond; Stanley L Hazen; Albert Hofman; Benjamin D Horne; Thomas Illig; Carlos Iribarren; Gregory T Jones; J Wouter Jukema; Michael A Kaiser; Lee M Kaplan; John J P Kastelein; Kay-Tee Khaw; Joshua W Knowles; Genovefa Kolovou; Augustine Kong; Reijo Laaksonen; Diether Lambrechts; Karin Leander; Guillaume Lettre; Mingyao Li; Wolfgang Lieb; Christina Loley; Andrew J Lotery; Pier M Mannucci; Seraya Maouche; Nicola Martinelli; Pascal P McKeown; Christa Meisinger; Thomas Meitinger; Olle Melander; Pier Angelica Merlini; Vincent Mooser; Thomas Morgan; Thomas W Mühleisen; Joseph B Muhlestein; Thomas Münzel; Kiran Musunuru; Janja Nahrstaedt; Christopher P Nelson; Markus M Nöthen; Oliviero Olivieri; Riyaz S Patel; Chris C Patterson; Annette Peters; Flora Peyvandi; Liming Qu; Arshed A Quyyumi; Daniel J Rader; Loukianos S Rallidis; Catherine Rice; Frits R Rosendaal; Diana Rubin; Veikko Salomaa; M Lourdes Sampietro; Manj S Sandhu; Eric Schadt; Arne Schäfer; Arne Schillert; Stefan Schreiber; Jürgen Schrezenmeir; Stephen M Schwartz; David S Siscovick; Mohan Sivananthan; Suthesh Sivapalaratnam; Albert Smith; Tamara B Smith; Jaapjan D Snoep; Nicole Soranzo; John A Spertus; Klaus Stark; Kathy Stirrups; Monika Stoll; W H Wilson Tang; Stephanie Tennstedt; Gudmundur Thorgeirsson; Gudmar Thorleifsson; Maciej Tomaszewski; Andre G Uitterlinden; Andre M van Rij; Benjamin F Voight; Nick J Wareham; George A Wells; H-Erich Wichmann; Philipp S Wild; Christina Willenborg; Jaqueline C M Witteman; Benjamin J Wright; Shu Ye; Tanja Zeller; Andreas Ziegler; Francois Cambien; Alison H Goodall; L Adrienne Cupples; Thomas Quertermous; Winfried März; Christian Hengstenberg; Stefan Blankenberg; Willem H Ouwehand; Alistair S Hall; Panos Deloukas; John R Thompson; Kari Stefansson; Robert Roberts; Unnur Thorsteinsdottir; Christopher J O'Donnell; Ruth McPherson; Jeanette Erdmann; Nilesh J Samani
Journal:  Nat Genet       Date:  2011-03-06       Impact factor: 38.330

10.  Genomewide association study using a high-density single nucleotide polymorphism array and case-control design identifies a novel essential hypertension susceptibility locus in the promoter region of endothelial NO synthase.

Authors:  Erika Salvi; Zoltán Kutalik; Nicola Glorioso; Paola Benaglio; Francesca Frau; Tatiana Kuznetsova; Hisatomi Arima; Clive Hoggart; Jean Tichet; Yury P Nikitin; Costanza Conti; Jitka Seidlerova; Valérie Tikhonoff; Katarzyna Stolarz-Skrzypek; Toby Johnson; Nabila Devos; Laura Zagato; Simonetta Guarrera; Roberta Zaninello; Andrea Calabria; Benedetta Stancanelli; Chiara Troffa; Lutgarde Thijs; Federica Rizzi; Galina Simonova; Sara Lupoli; Giuseppe Argiolas; Daniele Braga; Maria C D'Alessio; Maria F Ortu; Fulvio Ricceri; Maurizio Mercurio; Patrick Descombes; Maurizio Marconi; John Chalmers; Stephen Harrap; Jan Filipovsky; Murielle Bochud; Licia Iacoviello; Justine Ellis; Alice V Stanton; Maris Laan; Sandosh Padmanabhan; Anna F Dominiczak; Nilesh J Samani; Olle Melander; Xavier Jeunemaitre; Paolo Manunta; Amnon Shabo; Paolo Vineis; Francesco P Cappuccio; Mark J Caulfield; Giuseppe Matullo; Carlo Rivolta; Patricia B Munroe; Cristina Barlassina; Jan A Staessen; Jacques S Beckmann; Daniele Cusi
Journal:  Hypertension       Date:  2011-12-19       Impact factor: 10.190

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