Common and rare genetic variants and risk of CHD

被引:8
|
作者
Swerdlow, Daniel I. [1 ,2 ]
Humphries, Steve E. [1 ]
机构
[1] UCL, Ctr Cardiovasc Genet, Inst Cardiovasc Sci, 5 Univ St, London WC1E 6JF, England
[2] Imperial Coll London, Dept Med, Du Cane Rd, London W12 0NN, England
关键词
FAMILIAL HYPERCHOLESTEROLEMIA; MUTATIONS;
D O I
10.1038/nrcardio.2016.209
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Much of the progress in cardiovascular genetics in 2016 has been driven by next-generation sequencing studies, and the clinical utility of knowing an individual's genotype for predicting their risk of cardiovascular disease is gaining credibility, both for monogenic and polygenic disorders. Additionally, phenotype data are increasingly abundant, although databases linking genotype with clinically relevant phenotypes require optimization.
引用
收藏
页码:73 / 74
页数:2
相关论文
共 50 条
  • [1] Common and rare genetic variants and risk of CHD
    Daniel I. Swerdlow
    Steve E. Humphries
    Nature Reviews Cardiology, 2017, 14 : 73 - 74
  • [2] Discovery of common and rare genetic risk variants for colorectal cancer
    Jeroen R. Huyghe
    Stephanie A. Bien
    Tabitha A. Harrison
    Hyun Min Kang
    Sai Chen
    Stephanie L. Schmit
    David V. Conti
    Conghui Qu
    Jihyoun Jeon
    Christopher K. Edlund
    Peyton Greenside
    Michael Wainberg
    Fredrick R. Schumacher
    Joshua D. Smith
    David M. Levine
    Sarah C. Nelson
    Nasa A. Sinnott-Armstrong
    Demetrius Albanes
    M. Henar Alonso
    Kristin Anderson
    Coral Arnau-Collell
    Volker Arndt
    Christina Bamia
    Barbara L. Banbury
    John A. Baron
    Sonja I. Berndt
    Stéphane Bézieau
    D. Timothy Bishop
    Juergen Boehm
    Heiner Boeing
    Hermann Brenner
    Stefanie Brezina
    Stephan Buch
    Daniel D. Buchanan
    Andrea Burnett-Hartman
    Katja Butterbach
    Bette J. Caan
    Peter T. Campbell
    Christopher S. Carlson
    Sergi Castellví-Bel
    Andrew T. Chan
    Jenny Chang-Claude
    Stephen J. Chanock
    Maria-Dolores Chirlaque
    Sang Hee Cho
    Charles M. Connolly
    Amanda J. Cross
    Katarina Cuk
    Keith R. Curtis
    Albert de la Chapelle
    Nature Genetics, 2019, 51 : 76 - 87
  • [3] Discovery of common and rare genetic risk variants for colorectal cancer
    Huyghe, Jeroen R.
    Bien, Stephanie A.
    Harrison, Tabitha A.
    Kang, Hyun Min
    Chen, Sai
    Schmit, Stephanie L.
    Conti, David V.
    Qu, Conghui
    Jeon, Jihyoun
    Edlund, Christopher K.
    Greenside, Peyton
    Wainberg, Michael
    Schumacher, Fredrick R.
    Smith, Joshua D.
    Levine, David M.
    Nelson, Sarah C.
    Sinnott-Armstrong, Nasa A.
    Albanes, Demetrius
    Alonso, M. Henar
    Anderson, Kristin
    Arnau-Collell, Coral
    Arndt, Volker
    Bamia, Christina
    Banbury, Barbara L.
    Baron, John A.
    Berndt, Sonja I.
    Bezieau, Stephane
    Bishop, D. Timothy
    Boehm, Juergen
    Boeing, Heiner
    Brenner, Hermann
    Brezina, Stefanie
    Buch, Stephan
    Buchanan, Daniel D.
    Burnett-Hartman, Andrea
    Butterbach, Katja
    Caan, Bette J.
    Campbell, Peter T.
    Carlson, Christopher S.
    Castellvi-Bel, Sergi
    Chan, Andrew T.
    Chang-Claude, Jenny
    Chanock, Stephen J.
    Chirlaque, Maria-Dolores
    Cho, Sang Hee
    Connolly, Charles M.
    Cross, Amanda J.
    Cuk, Katarina
    Curtis, Keith R.
    de la Chapelle, Albert
    NATURE GENETICS, 2019, 51 (01) : 76 - +
  • [4] Rare and common genetic variants underlying the risk of Hirschsprung's disease
    Xiao, Jun
    Feng, Chenzhao
    Zhu, Tianqi
    Zhang, Xuan
    Chen, Xuyong
    Li, Zejian
    You, Jingyi
    Wang, Qiong
    Zhuansun, Didi
    Meng, Xinyao
    Wang, Jing
    Xiang, Lei
    Yu, Xiaosi
    Zhou, Bingyan
    Tang, Weibing
    Tou, Jinfa
    Wang, Yi
    Yang, Heying
    Yu, Lei
    Liu, Yuanmei
    Jiang, Xuewu
    Ren, Hongxia
    Yu, Mei
    Chen, Qi
    Yin, Qiang
    Liu, Xiang
    Xu, Zhilin
    Wu, Dianming
    Yu, Donghai
    Wu, Xiaojuan
    Yang, Jixin
    Xiong, Bo
    Chen, Feng
    Hao, Xingjie
    Feng, Jiexiong
    HUMAN MOLECULAR GENETICS, 2025, 34 (07) : 586 - 598
  • [5] Common genetic variants contribute to risk of rare severe neurodevelopmental disorders
    Mari E. K. Niemi
    Hilary C. Martin
    Daniel L. Rice
    Giuseppe Gallone
    Scott Gordon
    Martin Kelemen
    Kerrie McAloney
    Jeremy McRae
    Elizabeth J. Radford
    Sui Yu
    Jozef Gecz
    Nicholas G. Martin
    Caroline F. Wright
    David R. Fitzpatrick
    Helen V. Firth
    Matthew E. Hurles
    Jeffrey C. Barrett
    Nature, 2018, 562 : 268 - 271
  • [6] Common genetic variants contribute to risk of rare severe neurodevelopmental disorders
    Niemi, Mari E. K.
    Martin, Hilary C.
    Rice, Daniel L.
    Gallon, Giuseppe
    Gordon, Scott
    Kelemen, Martin
    McAloney, Kerrie
    McRae, Jeremy
    Radford, Elizabeth J.
    Yu, Sui
    Gecz, Jozef
    Martin, Nicholas G.
    Wright, Caroline F.
    Fitzpatrick, David R.
    Firth, Helen, V
    Hurles, Matthew E.
    Barrett, Jeffrey C.
    NATURE, 2018, 562 (7726) : 268 - +
  • [7] Genetic Risk Variants in Hyperuricemia and Gout: Common Disease, Multiple Common and Rare Variant Hypothesis
    Stiburkova, Blanka
    Pavelcova, Katerina
    Masinova, Jana
    Pavlikova, Marketa
    Pavelka, Karel
    ARTHRITIS & RHEUMATOLOGY, 2023, 75 : 2181 - 2182
  • [8] The Role of Common and Rare Variants in ADHD Risk and Genetic Overlap With Other Phenotypes
    Demontis, Ditte
    Satterstrom, Kyle F.
    Duan, Jinjie
    Lescai, Francesco
    Ostergaard, Soren Dinesen
    Lesch, Klaus-Peter
    Werge, Thomas
    Mortensen, Preben
    Glerup, Simon
    Franke, Barbara
    Hougaard, David M.
    Reif, Andreas
    Daly, Mark
    Neale, Benjamin
    Borglum, Anders
    BIOLOGICAL PSYCHIATRY, 2019, 85 (10) : S5 - S6
  • [9] Neural phenotypes of common and rare genetic variants
    Bearden, Carrie E.
    Glahn, David C.
    Lee, Agatha D.
    Chiang, Ming-Chang
    van Erp, Theo G. M.
    Cannon, Tyrone D.
    Reiss, Allan L.
    Toga, Arthur W.
    Thompson, Paul M.
    BIOLOGICAL PSYCHOLOGY, 2008, 79 (01) : 43 - 57
  • [10] Rare genetic variants and the risk of cancer
    Bodmer, Walter
    Tomlinson, Ian
    CURRENT OPINION IN GENETICS & DEVELOPMENT, 2010, 20 (03) : 262 - 267