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

被引:9
作者
Auer, Paul L. [1 ]
Stitziel, Nathan O. [2 ,3 ,4 ]
机构
[1] Univ Wisconsin, Zilber Sch Publ Hlth, Milwaukee, WI 53201 USA
[2] Washington Univ, Sch Med, Dept Med, Div Cardiovasc, St Louis, MO 63110 USA
[3] Washington Univ, Sch Med, Dept Genet, St Louis, MO 63110 USA
[4] Washington Univ, Sch Med, McDonnell Genome Inst, St Louis, MO USA
关键词
GWAS; Genetics; Power; GENOME-WIDE ASSOCIATION; LOW-FREQUENCY; RARE VARIANTS; COMMON; PCSK9; STRATIFICATION; METAANALYSIS; REPLICATION; PROTECTION; MUTATIONS;
D O I
10.1016/j.tcm.2017.03.005
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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.
引用
收藏
页码:397 / 404
页数:8
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  • [1] Mutations in PCSK9 cause autosomal dominant hypercholesterolemia
    Abifadel, M
    Varret, M
    Rabès, JP
    Allard, D
    Ouguerram, K
    Devillers, M
    Cruaud, C
    Benjannet, S
    Wickham, L
    Erlich, D
    Derré, A
    Villéger, L
    Farnier, M
    Beucler, I
    Bruckert, E
    Chambaz, J
    Chanu, B
    Lecerf, JM
    Luc, G
    Moulin, P
    Weissenbach, J
    Prat, A
    Krempf, M
    Junien, C
    Seidah, NG
    Boileau, C
    [J]. NATURE GENETICS, 2003, 34 (02) : 154 - 156
  • [2] A haplotype map of the human genome
    Altshuler, D
    Brooks, LD
    Chakravarti, A
    Collins, FS
    Daly, MJ
    Donnelly, P
    Gibbs, RA
    Belmont, JW
    Boudreau, A
    Leal, SM
    Hardenbol, P
    Pasternak, S
    Wheeler, DA
    Willis, TD
    Yu, FL
    Yang, HM
    Zeng, CQ
    Gao, Y
    Hu, HR
    Hu, WT
    Li, CH
    Lin, W
    Liu, SQ
    Pan, H
    Tang, XL
    Wang, J
    Wang, W
    Yu, J
    Zhang, B
    Zhang, QR
    Zhao, HB
    Zhao, H
    Zhou, J
    Gabriel, SB
    Barry, R
    Blumenstiel, B
    Camargo, A
    Defelice, M
    Faggart, M
    Goyette, M
    Gupta, S
    Moore, J
    Nguyen, H
    Onofrio, RC
    Parkin, M
    Roy, J
    Stahl, E
    Winchester, E
    Ziaugra, L
    Shen, Y
    [J]. NATURE, 2005, 437 (7063) : 1299 - 1320
  • [3] A global reference for human genetic variation
    Altshuler, David M.
    Durbin, Richard M.
    Abecasis, Goncalo R.
    Bentley, David R.
    Chakravarti, Aravinda
    Clark, Andrew G.
    Donnelly, Peter
    Eichler, Evan E.
    Flicek, Paul
    Gabriel, Stacey B.
    Gibbs, Richard A.
    Green, Eric D.
    Hurles, Matthew E.
    Knoppers, Bartha M.
    Korbel, Jan O.
    Lander, Eric S.
    Lee, Charles
    Lehrach, Hans
    Mardis, Elaine R.
    Marth, Gabor T.
    McVean, Gil A.
    Nickerson, Deborah A.
    Wang, Jun
    Wilson, Richard K.
    Boerwinkle, Eric
    Doddapaneni, Harsha
    Han, Yi
    Korchina, Viktoriya
    Kovar, Christie
    Lee, Sandra
    Muzny, Donna
    Reid, Jeffrey G.
    Zhu, Yiming
    Chang, Yuqi
    Feng, Qiang
    Fang, Xiaodong
    Guo, Xiaosen
    Jian, Min
    Jiang, Hui
    Jin, Xin
    Lan, Tianming
    Li, Guoqing
    Li, Jingxiang
    Li, Yingrui
    Liu, Shengmao
    Liu, Xiao
    Lu, Yao
    Ma, Xuedi
    Tang, Meifang
    Wang, Bo
    [J]. NATURE, 2015, 526 (7571) : 68 - +
  • [4] Auer PL, 2016, AM J HUM GENET
  • [5] A RECEPTOR-MEDIATED PATHWAY FOR CHOLESTEROL HOMEOSTASIS
    BROWN, MS
    GOLDSTEIN, JL
    [J]. SCIENCE, 1986, 232 (4746) : 34 - 47
  • [6] Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
    Burton, Paul R.
    Clayton, David G.
    Cardon, Lon R.
    Craddock, Nick
    Deloukas, Panos
    Duncanson, Audrey
    Kwiatkowski, Dominic P.
    McCarthy, Mark I.
    Ouwehand, Willem H.
    Samani, Nilesh J.
    Todd, John A.
    Donnelly, Peter
    Barrett, Jeffrey C.
    Davison, Dan
    Easton, Doug
    Evans, David
    Leung, Hin-Tak
    Marchini, Jonathan L.
    Morris, Andrew P.
    Spencer, Chris C. A.
    Tobin, Martin D.
    Attwood, Antony P.
    Boorman, James P.
    Cant, Barbara
    Everson, Ursula
    Hussey, Judith M.
    Jolley, Jennifer D.
    Knight, Alexandra S.
    Koch, Kerstin
    Meech, Elizabeth
    Nutland, Sarah
    Prowse, Christopher V.
    Stevens, Helen E.
    Taylor, Niall C.
    Walters, Graham R.
    Walker, Neil M.
    Watkins, Nicholas A.
    Winzer, Thilo
    Jones, Richard W.
    McArdle, Wendy L.
    Ring, Susan M.
    Strachan, David P.
    Pembrey, Marcus
    Breen, Gerome
    St Clair, David
    Caesar, Sian
    Gordon-Smith, Katherine
    Jones, Lisa
    Fraser, Christine
    Green, Elain K.
    [J]. NATURE, 2007, 447 (7145) : 661 - 678
  • [7] Demonstrating stratification in a European American population
    Campbell, CD
    Ogburn, EL
    Lunetta, KL
    Lyon, HN
    Freedman, ML
    Groop, LC
    Altshuler, D
    Ardlie, KG
    Hirschhorn, JN
    [J]. NATURE GENETICS, 2005, 37 (08) : 868 - 872
  • [8] Large-scale association analysis identifies new risk loci for coronary artery disease
    Deloukas, Panos
    Kanoni, Stavroula
    Willenborg, Christina
    Farrall, Martin
    Assimes, Themistocles L.
    Thompson, John R.
    Ingelsson, Erik
    Saleheen, Danish
    Erdmann, Jeanette
    Goldstein, Benjamin A.
    Stirrups, Kathleen
    Koenig, Inke R.
    Cazier, Jean-Baptiste
    Johansson, Asa
    Hall, Alistair S.
    Lee, Jong-Young
    Willer, Cristen J.
    Chambers, John C.
    Esko, Tonu
    Folkersen, Lasse
    Goel, Anuj
    Grundberg, Elin
    Havulinna, Aki S.
    Ho, Weang K.
    Hopewell, Jemma C.
    Eriksson, Niclas
    Kleber, Marcus E.
    Kristiansson, Kati
    Lundmark, Per
    Lyytikainen, Leo-Pekka
    Rafelt, Suzanne
    Shungin, Dmitry
    Strawbridge, Rona J.
    Thorleifsson, Gudmar
    Tikkanen, Emmi
    Van Zuydam, Natalie
    Voight, Benjamin F.
    Waite, Lindsay L.
    Zhang, Weihua
    Ziegler, Andreas
    Absher, Devin
    Altshuler, David
    Balmforth, Anthony J.
    Barroso, Ines
    Braund, Peter S.
    Burgdorf, Christof
    Claudi-Boehm, Simone
    Cox, David
    Dimitriou, Maria
    Do, Ron
    [J]. NATURE GENETICS, 2013, 45 (01) : 25 - U52
  • [9] Low LDL cholesterol in African Americans resulting from frequent nonsense mutations in PCSK9
    Cohen, J
    Pertsemlidis, A
    Kotowski, IK
    Graham, R
    Garcia, CK
    Hobbs, HH
    [J]. NATURE GENETICS, 2005, 37 (03) : 328 - 328
  • [10] Sequence variations in PCSK9, low LDL, and protection against coronary heart disease
    Cohen, JC
    Boerwinkle, E
    Mosley, TH
    Hobbs, HH
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 2006, 354 (12) : 1264 - 1272