Literature DB >> 22424232

Genetics of human cardiovascular disease.

Sekar Kathiresan1, Deepak Srivastava.   

Abstract

Cardiovascular disease encompasses a range of conditions extending from myocardial infarction to congenital heart disease, most of which are heritable. Enormous effort has been invested in understanding the genes and specific DNA sequence variants that are responsible for this heritability. Here, we review the lessons learned for monogenic and common, complex forms of cardiovascular disease. We also discuss key challenges that remain for gene discovery and for moving from genomic localization to mechanistic insights, with an emphasis on the impact of next-generation sequencing and the use of pluripotent human cells to understand the mechanism by which genetic variation contributes to disease.
Copyright © 2012 Elsevier Inc. All rights reserved.

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Year:  2012        PMID: 22424232      PMCID: PMC3319439          DOI: 10.1016/j.cell.2012.03.001

Source DB:  PubMed          Journal:  Cell        ISSN: 0092-8674            Impact factor:   41.582


  132 in total

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2.  Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1.

Authors:  J A Jarcho; W McKenna; J A Pare; S D Solomon; R F Holcombe; S Dickie; T Levi; H Donis-Keller; J G Seidman; C E Seidman
Journal:  N Engl J Med       Date:  1989-11-16       Impact factor: 91.245

3.  Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.

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Journal:  Proc Natl Acad Sci U S A       Date:  2009-05-27       Impact factor: 11.205

4.  Power of deep, all-exon resequencing for discovery of human trait genes.

Authors:  Gregory V Kryukov; Alexander Shpunt; John A Stamatoyannopoulos; Shamil R Sunyaev
Journal:  Proc Natl Acad Sci U S A       Date:  2009-02-06       Impact factor: 11.205

5.  Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK.

Authors:  D B Simon; F E Karet; J Rodriguez-Soriano; J H Hamdan; A DiPietro; H Trachtman; S A Sanjad; R P Lifton
Journal:  Nat Genet       Date:  1996-10       Impact factor: 38.330

6.  K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension.

Authors:  Murim Choi; Ute I Scholl; Peng Yue; Peyman Björklund; Bixiao Zhao; Carol Nelson-Williams; Weizhen Ji; Yoonsang Cho; Aniruddh Patel; Clara J Men; Elias Lolis; Max V Wisgerhof; David S Geller; Shrikant Mane; Per Hellman; Gunnar Westin; Göran Åkerström; Wenhui Wang; Tobias Carling; Richard P Lifton
Journal:  Science       Date:  2011-02-11       Impact factor: 47.728

7.  Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains.

Authors:  M A Lehrman; W J Schneider; T C Südhof; M S Brown; J L Goldstein; D W Russell
Journal:  Science       Date:  1985-01-11       Impact factor: 47.728

8.  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

9.  Human hypertension caused by mutations in the kidney isozyme of 11 beta-hydroxysteroid dehydrogenase.

Authors:  T Mune; F M Rogerson; H Nikkilä; A K Agarwal; P C White
Journal:  Nat Genet       Date:  1995-08       Impact factor: 38.330

10.  The Human Gene Mutation Database: 2008 update.

Authors:  Peter D Stenson; Matthew Mort; Edward V Ball; Katy Howells; Andrew D Phillips; Nick St Thomas; David N Cooper
Journal:  Genome Med       Date:  2009-01-22       Impact factor: 11.117

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  158 in total

Review 1.  Genetics of lipid traits and relationship to coronary artery disease.

Authors:  Tanya E Keenan; Daniel J Rader
Journal:  Curr Cardiol Rep       Date:  2013-09       Impact factor: 2.931

2.  Gene expression analyses of mouse aortic endothelium in response to atherogenic stimuli.

Authors:  Ayca Erbilgin; Nathan Siemers; Paul Kayne; Wen-pin Yang; Judith Berliner; Aldons J Lusis
Journal:  Arterioscler Thromb Vasc Biol       Date:  2013-08-29       Impact factor: 8.311

3.  The State of Cardiovascular Genomics: Abundant Data, Limited Information.

Authors:  Stella Aslibekyan; Edward A Ruiz-Narváez
Journal:  Rev Esp Cardiol (Engl Ed)       Date:  2017-04-08

Review 4.  Emerging Role of Precision Medicine in Cardiovascular Disease.

Authors:  Jane A Leopold; Joseph Loscalzo
Journal:  Circ Res       Date:  2018-04-27       Impact factor: 17.367

5.  Functional and structural changes in aorta of mice divergently selected for basal metabolic rate.

Authors:  Diana Sawicka; Sebastian Maciak; Hanna Kozłowska; Irena Kasacka; Monika Kloza; Anna Sadowska; Emilia Sokołowska; Marek Konarzewski; Halina Car
Journal:  J Comp Physiol B       Date:  2019-12-23       Impact factor: 2.200

6.  Dietary patterns interact with chromosome 9p21 rs1333048 polymorphism on the risk of obesity and cardiovascular risk factors in apparently healthy Tehrani adults.

Authors:  Mehdi Mollahosseini; Mohammad Hossein Rahimi; Mir Saeed Yekaninejad; Zhila Maghbooli; Khadijeh Mirzaei
Journal:  Eur J Nutr       Date:  2019-01-02       Impact factor: 5.614

Review 7.  Genetics of sudden cardiac death caused by ventricular arrhythmias.

Authors:  Roos F Marsman; Hanno L Tan; Connie R Bezzina
Journal:  Nat Rev Cardiol       Date:  2013-12-10       Impact factor: 32.419

8.  Transcriptional atlas of cardiogenesis maps congenital heart disease interactome.

Authors:  Xing Li; Almudena Martinez-Fernandez; Katherine A Hartjes; Jean-Pierre A Kocher; Timothy M Olson; Andre Terzic; Timothy J Nelson
Journal:  Physiol Genomics       Date:  2014-05-06       Impact factor: 3.107

Review 9.  Transcriptional regulation and its misregulation in disease.

Authors:  Tong Ihn Lee; Richard A Young
Journal:  Cell       Date:  2013-03-14       Impact factor: 41.582

10.  Hypertension is associated with a variant in the RARRES2 gene in populations of Ouro Preto, Minas Gerais, Brazil: a cross-sectional study.

Authors:  Aline Priscila Batista; Keila Furbino Barbosa; Rafael Júnior de Azevedo; Valeska Natiely Vianna; Erica Maria de Queiroz; Carolina Coimbra Marinho; George Luiz Lins Machado-Coelho
Journal:  Int J Mol Epidemiol Genet       Date:  2021-06-15
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