Literature DB >> 28456354

Genetic association studies in cardiovascular diseases: Do we have enough power?

Paul L Auer1, Nathan O Stitziel2.   

Abstract

Genetic association studies have a long history of delivering insightful results for cardiovascular disease (CVD) research. Beginning with early candidate gene studies, to genome-wide association studies, and now on to newer whole-genome sequencing studies, research in human genetics has enriched our understanding of the pathobiology of CVD. As these studies continue to expand, the issue of statistical power plays an important role in study design as well as the interpretation of results. We provide an overview of the component parts that determine statistical power and preview the future of CVD genetic association studies through this lens.
Copyright © 2017 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  GWAS; Genetics; Power

Mesh:

Substances:

Year:  2017        PMID: 28456354      PMCID: PMC5642948          DOI: 10.1016/j.tcm.2017.03.005

Source DB:  PubMed          Journal:  Trends Cardiovasc Med        ISSN: 1050-1738            Impact factor:   6.677


  49 in total

Review 1.  Beyond GWASs: illuminating the dark road from association to function.

Authors:  Stacey L Edwards; Jonathan Beesley; Juliet D French; Alison M Dunning
Journal:  Am J Hum Genet       Date:  2013-11-07       Impact factor: 11.025

Review 2.  Lipid lowering with PCSK9 inhibitors.

Authors:  Razvan T Dadu; Christie M Ballantyne
Journal:  Nat Rev Cardiol       Date:  2014-06-24       Impact factor: 32.419

3.  Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis.

Authors:  Linda M Polfus; Rajiv K Khajuria; Ursula M Schick; Nathan Pankratz; Raha Pazoki; Jennifer A Brody; Ming-Huei Chen; Paul L Auer; James S Floyd; Jie Huang; Leslie Lange; Frank J A van Rooij; Richard A Gibbs; Ginger Metcalf; Donna Muzny; Narayanan Veeraraghavan; Klaudia Walter; Lu Chen; Lisa Yanek; Lewis C Becker; Gina M Peloso; Aoi Wakabayashi; Mart Kals; Andres Metspalu; Tõnu Esko; Keolu Fox; Robert Wallace; Nora Franceschini; Nena Matijevic; Kenneth M Rice; Traci M Bartz; Leo-Pekka Lyytikäinen; Mika Kähönen; Terho Lehtimäki; Olli T Raitakari; Ruifang Li-Gao; Dennis O Mook-Kanamori; Guillaume Lettre; Cornelia M van Duijn; Oscar H Franco; Stephen S Rich; Fernando Rivadeneira; Albert Hofman; André G Uitterlinden; James G Wilson; Bruce M Psaty; Nicole Soranzo; Abbas Dehghan; Eric Boerwinkle; Xiaoling Zhang; Andrew D Johnson; Christopher J O'Donnell; Jill M Johnsen; Alexander P Reiner; Santhi K Ganesh; Vijay G Sankaran
Journal:  Am J Hum Genet       Date:  2016-09-01       Impact factor: 11.025

4.  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

5.  Common variants in KCNN3 are associated with lone atrial fibrillation.

Authors:  Patrick T Ellinor; Kathryn L Lunetta; Nicole L Glazer; Arne Pfeufer; Alvaro Alonso; Mina K Chung; Moritz F Sinner; Paul I W de Bakker; Martina Mueller; Steven A Lubitz; Ervin Fox; Dawood Darbar; Nicholas L Smith; Jonathan D Smith; Renate B Schnabel; Elsayed Z Soliman; Kenneth M Rice; David R Van Wagoner; Britt-M Beckmann; Charlotte van Noord; Ke Wang; Georg B Ehret; Jerome I Rotter; Stanley L Hazen; Gerhard Steinbeck; Albert V Smith; Lenore J Launer; Tamara B Harris; Seiko Makino; Mari Nelis; David J Milan; Siegfried Perz; Tõnu Esko; Anna Köttgen; Susanne Moebus; Christopher Newton-Cheh; Man Li; Stefan Möhlenkamp; Thomas J Wang; W H Linda Kao; Ramachandran S Vasan; Markus M Nöthen; Calum A MacRae; Bruno H Ch Stricker; Albert Hofman; André G Uitterlinden; Daniel Levy; Eric Boerwinkle; Andres Metspalu; Eric J Topol; Aravinda Chakravarti; Vilmundur Gudnason; Bruce M Psaty; Dan M Roden; Thomas Meitinger; H-Erich Wichmann; Jacqueline C M Witteman; John Barnard; Dan E Arking; Emelia J Benjamin; Susan R Heckbert; Stefan Kääb
Journal:  Nat Genet       Date:  2010-02-21       Impact factor: 38.330

6.  A global reference for human genetic variation.

Authors:  Adam Auton; Lisa D Brooks; Richard M Durbin; Erik P Garrison; Hyun Min Kang; Jan O Korbel; Jonathan L Marchini; Shane McCarthy; Gil A McVean; Gonçalo R Abecasis
Journal:  Nature       Date:  2015-10-01       Impact factor: 49.962

7.  An evaluation of statistical approaches to rare variant analysis in genetic association studies.

Authors:  Andrew P Morris; Eleftheria Zeggini
Journal:  Genet Epidemiol       Date:  2010-02       Impact factor: 2.135

8.  A reference panel of 64,976 haplotypes for genotype imputation.

Authors:  Shane McCarthy; Sayantan Das; Warren Kretzschmar; Olivier Delaneau; Andrew R Wood; Alexander Teumer; Hyun Min Kang; Christian Fuchsberger; Petr Danecek; Kevin Sharp; Yang Luo; Carlo Sidore; Alan Kwong; Nicholas Timpson; Seppo Koskinen; Scott Vrieze; Laura J Scott; He Zhang; Anubha Mahajan; Jan Veldink; Ulrike Peters; Carlos Pato; Cornelia M van Duijn; Christopher E Gillies; Ilaria Gandin; Massimo Mezzavilla; Arthur Gilly; Massimiliano Cocca; Michela Traglia; Andrea Angius; Jeffrey C Barrett; Dorrett Boomsma; Kari Branham; Gerome Breen; Chad M Brummett; Fabio Busonero; Harry Campbell; Andrew Chan; Sai Chen; Emily Chew; Francis S Collins; Laura J Corbin; George Davey Smith; George Dedoussis; Marcus Dorr; Aliki-Eleni Farmaki; Luigi Ferrucci; Lukas Forer; Ross M Fraser; Stacey Gabriel; Shawn Levy; Leif Groop; Tabitha Harrison; Andrew Hattersley; Oddgeir L Holmen; Kristian Hveem; Matthias Kretzler; James C Lee; Matt McGue; Thomas Meitinger; David Melzer; Josine L Min; Karen L Mohlke; John B Vincent; Matthias Nauck; Deborah Nickerson; Aarno Palotie; Michele Pato; Nicola Pirastu; Melvin McInnis; J Brent Richards; Cinzia Sala; Veikko Salomaa; David Schlessinger; Sebastian Schoenherr; P Eline Slagboom; Kerrin Small; Timothy Spector; Dwight Stambolian; Marcus Tuke; Jaakko Tuomilehto; Leonard H Van den Berg; Wouter Van Rheenen; Uwe Volker; Cisca Wijmenga; Daniela Toniolo; Eleftheria Zeggini; Paolo Gasparini; Matthew G Sampson; James F Wilson; Timothy Frayling; Paul I W de Bakker; Morris A Swertz; Steven McCarroll; Charles Kooperberg; Annelot Dekker; David Altshuler; Cristen Willer; William Iacono; Samuli Ripatti; Nicole Soranzo; Klaudia Walter; Anand Swaroop; Francesco Cucca; Carl A Anderson; Richard M Myers; Michael Boehnke; Mark I McCarthy; Richard Durbin
Journal:  Nat Genet       Date:  2016-08-22       Impact factor: 38.330

9.  The UK10K project identifies rare variants in health and disease.

Authors:  Klaudia Walter; Josine L Min; Jie Huang; Lucy Crooks; Yasin Memari; Shane McCarthy; John R B Perry; ChangJiang Xu; Marta Futema; Daniel Lawson; Valentina Iotchkova; Stephan Schiffels; Audrey E Hendricks; Petr Danecek; Rui Li; James Floyd; Louise V Wain; Inês Barroso; Steve E Humphries; Matthew E Hurles; Eleftheria Zeggini; Jeffrey C Barrett; Vincent Plagnol; J Brent Richards; Celia M T Greenwood; Nicholas J Timpson; Richard Durbin; Nicole Soranzo
Journal:  Nature       Date:  2015-09-14       Impact factor: 49.962

10.  Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers.

Authors:  Carlo Sidore; Fabio Busonero; Andrea Maschio; Eleonora Porcu; Silvia Naitza; Magdalena Zoledziewska; Antonella Mulas; Giorgio Pistis; Maristella Steri; Fabrice Danjou; Alan Kwong; Vicente Diego Ortega Del Vecchyo; Charleston W K Chiang; Jennifer Bragg-Gresham; Maristella Pitzalis; Ramaiah Nagaraja; Brendan Tarrier; Christine Brennan; Sergio Uzzau; Christian Fuchsberger; Rossano Atzeni; Frederic Reinier; Riccardo Berutti; Jie Huang; Nicholas J Timpson; Daniela Toniolo; Paolo Gasparini; Giovanni Malerba; George Dedoussis; Eleftheria Zeggini; Nicole Soranzo; Chris Jones; Robert Lyons; Andrea Angius; Hyun M Kang; John Novembre; Serena Sanna; David Schlessinger; Francesco Cucca; Gonçalo R Abecasis
Journal:  Nat Genet       Date:  2015-09-14       Impact factor: 38.330

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  6 in total

Review 1.  Large-Scale Genomic Biobanks and Cardiovascular Disease.

Authors:  Aeron M Small; Christopher J O'Donnell; Scott M Damrauer
Journal:  Curr Cardiol Rep       Date:  2018-03-08       Impact factor: 2.931

Review 2.  Rat models of human diseases and related phenotypes: a systematic inventory of the causative genes.

Authors:  Claude Szpirer
Journal:  J Biomed Sci       Date:  2020-08-02       Impact factor: 8.410

Review 3.  Exome sequencing in genetic disease: recent advances and considerations.

Authors:  Jay P Ross; Patrick A Dion; Guy A Rouleau
Journal:  F1000Res       Date:  2020-05-06

4.  Association study of polymorphism in Thrombomodulin gene [rs1042579] with cardiovascular disease.

Authors:  Elham Khosravi; Ladan Sadeghian; Parisa Mohamadynejad; Minoo Dianatkhah; Mahsa Hajizadeh; Mojgan Gharipour
Journal:  Acta Biomed       Date:  2022-01-19

5.  New perspectives: systems medicine in cardiovascular disease.

Authors:  Frank Kramer; Steffen Just; Tanja Zeller
Journal:  BMC Syst Biol       Date:  2018-04-25

Review 6.  Translational Genomics in Neurocritical Care: a Review.

Authors:  Pavlos Myserlis; Farid Radmanesh; Christopher D Anderson
Journal:  Neurotherapeutics       Date:  2020-04       Impact factor: 7.620

  6 in total

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