Genome-wide association studies articles within Nature

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  • Analysis
    | Open Access

    Human genetic evidence increases the success rate of drugs from clinical development to approval but we are still far from reaching peak genetic insights to aid the discovery of targets for more effective drugs.

    • Eric Vallabh Minikel
    • , Jeffery L. Painter
    •  & Matthew R. Nelson

  • Article
    | Open Access

    A meta-analysis of genome-wide association studies for 233 circulating metabolites from 33 cohorts reveals more than 400 loci and suggests probable causal genes, providing insights into metabolic pathways and disease aetiology.

    • Minna K. Karjalainen
    • , Savita Karthikeyan
    •  & Johannes Kettunen

  • Article
    | Open Access

    A meta-analysis of genome-wide association studies of type 2 diabetes (T2D) identifies more than 600 T2D-associated loci; integrating physiological trait and single-cell chromatin accessibility data at these loci sheds light on heterogeneity within the T2D phenotype.

    • Ken Suzuki
    • , Konstantinos Hatzikotoulas
    •  & Eleftheria Zeggini

  • Article
    | Open Access

    A study describes the release of clinical-grade whole-genome sequence data for 245,388 diverse participants by the All of Us Research Program and characterizes the properties of the dataset.

    • Alexander G. Bick
    • , Ginger A. Metcalf
    •  & Joshua C. Denny

  • Article |

    Analysis of data from the Born in Guangzhou Cohort Study comprising mainly of trios and mother–infant pairs reveals novel East Asian-specific genetic associations with maternal bile acid, gestational weight gain and infant cord blood traits.

    • Shujia Huang
    • , Siyang Liu
    •  & Xiu Qiu

  • Article
    | Open Access

    Comparisons of phenotypic and genetic association with protein levels from Icelandic and UK Biobank cohorts show that using multiple analysis platforms and stratifying populations by ancestry improves the detection of associations and allows the refinement of their location within the genome.

    • Grimur Hjorleifsson Eldjarn
    • , Egil Ferkingstad
    •  & Kari Stefansson

  • Article
    | Open Access

    The Pharma Proteomics Project generates the largest open-access plasma proteomics dataset to date, offering insights into trans protein quantitative trait loci across multiple biological domains, and highlighting genetic influences on ligand–receptor interactions and pathway perturbations across a diverse collection of cytokines and complement networks.

    • Benjamin B. Sun
    • , Joshua Chiou
    •  & Christopher D. Whelan

  • Review Article |

    This Review provides a perspective on the development of non-cancer therapies based on human genetics studies and suggests measures that can be taken to streamline the pipeline from initial genetic discovery to approved therapy.

    • Katerina Trajanoska
    • , Claude Bhérer
    •  & Vincent Mooser

  • Article |

    A genome-wide association study including 22,389 cases of multiple sclerosis finds an association with disease progression at the DYSF–ZNF638 and DNM3–PIGC loci and identifies a potential of higher educational attainment in slowing disease progression.

    • Adil Harroud
    • , Pernilla Stridh
    •  & Kári Stefánsson

  • Article
    | Open Access

    An analysis of 24,202 critical cases of COVID-19 identifies potentially druggable targets in inflammatory signalling (JAK1), monocyte–macrophage activation and endothelial permeability (PDE4A), immunometabolism (SLC2A5 and AK5), and host factors required for viral entry and replication (TMPRSS2 and RAB2A).

    • Erola Pairo-Castineira
    • , Konrad Rawlik
    •  & J. Kenneth Baillie

  • Article |

    A study shows that clonal haematopoiesis of indeterminate potential is associated with an increased risk of chronic liver disease specifically through the promotion of liver inflammation and injury.

    • Waihay J. Wong
    • , Connor Emdin
    •  & Pradeep Natarajan

  • Article |

    A machine learning approach is used to analyse multi-omics (proteomics, metabolomics and transcriptomics) data, producing genetic scores for more than 17,000 biomolecular traits in human blood, and identifying possible associations with disease.

    • Yu Xu
    • , Scott C. Ritchie
    •  & Michael Inouye

  • Article |

     An analysis of rare coding variants across 22 common traits and diseases indicates that these variants will contribute substantially to biological insights but modestly to population risk stratification.

    • Daniel J. Weiner
    • , Ajay Nadig
    •  & Luke J. O’Connor

  • Article
    | Open Access

    An analysis of biobank data from the FinnGen project examines dosage effects of genetic variants on disease, andidentifies a benefit when considering more complex inheritance in the genetics of common as well as Mendelian diseases.

    • H. O. Heyne
    • , J. Karjalainen
    •  & M. J. Daly

  • Article
    | Open Access

    Genome-wide association studies of individuals from an isolated population (data from the Finnish biobank study FinnGen) and consequent meta-analyses facilitate the identification of previously unknown coding variant associations for both rare and common diseases.

    • Mitja I. Kurki
    • , Juha Karjalainen
    •  & Aarno Palotie

  • Article |

    Exome sequence data from 628,388 individuals was used to identify 24 risk loci in 40,208 carriers of clonal haematopoiesis of indeterminate potential and link them to other conditions including COVID-19, cardiovascular disease and cancer.

    • Michael D. Kessler
    • , Amy Damask
    •  & Eric Jorgenson

  • Article
    | Open Access

    A large genome-wide association study of more than 5 million individuals reveals that 12,111 single-nucleotide polymorphisms account for nearly all the heritability of height attributable to common genetic variants.

    • Loïc Yengo
    • , Sailaja Vedantam
    •  & Joel N. Hirschhorn

  • Article
    | Open Access

    A cross-ancestry meta-analysis of genome-wide association studies identifies association signals for stroke and its subtypes at 89 (61 new) independent loci, reveals putative causal genes, highlighting F11, KLKB1, PROC, GP1BA, LAMC2 and VCAM1 as potential drug targets, and provides cross-ancestry integrative risk prediction.

    • Aniket Mishra
    • , Rainer Malik
    •  & Stephanie Debette

  • Article
    | Open Access

    To measure selection on variants, whole-genome sequencing of approximately 150,000 individuals from the UK Biobank is used to rank sequence variants by their level of depletion.

    • Bjarni V. Halldorsson
    • , Hannes P. Eggertsson
    •  & Kari Stefansson

  • Article
    | Open Access

    A precise catalogue of more than 19 million variants from 838 tomato genomes, including 32 new reference-level genome assemblies, advances the understanding of the heritability of complex traits and demonstrates the power of the graph pangenome in crop breeding.

    • Yao Zhou
    • , Zhiyang Zhang
    •  & Sanwen Huang

  • Article |

    A genome-wide association study including over 76,000 individuals with schizophrenia and over 243,000 control individuals identifies common variant associations at 287 genomic loci, and further fine-mapping analyses highlight the importance of genes involved in synaptic processes.

    • Vassily Trubetskoy
    • , Antonio F. Pardiñas
    •  & Jim van Os

  • Article
    | Open Access

    Whole-genome sequencing, transcriptome-wide association and fine-mapping analyses in over 7,000 individuals with critical COVID-19 are used to identify 16 independent variants that are associated with severe illness in COVID-19.

    • Athanasios Kousathanas
    • , Erola Pairo-Castineira
    •  & J. Kenneth Baillie

  • Perspective |

    The Dog Aging Project is an open-data, community science study to identify genetic, environmental and lifestyle factors associated with canine healthy lifespan, generating knowledge that could readily translate to human ageing.

    • Kate E. Creevy
    • , Joshua M. Akey
    •  & Benjamin S. Wilfond

  • Article |

    A genome-wide association meta-analysis study of blood lipid levels in roughly 1.6 million individuals demonstrates the gain of power attained when diverse ancestries are included to improve fine-mapping and polygenic score generation, with gains in locus discovery related to sample size.

    • Sarah E. Graham
    • , Shoa L. Clarke
    •  & Cristen J. Willer

  • Article
    | Open Access

    Whole-exome sequencing analysis of 454,787 individuals in the UK Biobank is used to examine the association of protein-coding variants with nearly 4,000 health-related traits, identifying 564 distinct genes with significant trait associations.

    • Joshua D. Backman
    • , Alexander H. Li
    •  & Manuel A. R. Ferreira

  • Article
    | Open Access

    A global network of researchers was formed to investigate the role of human genetics in SARS-CoV-2 infection and COVID-19 severity; this paper reports 13 genome-wide significant loci and potentially actionable mechanisms in response to infection.

    • Mari E. K. Niemi
    • , Juha Karjalainen
    •  & Chloe Donohue

  • Article |

    Disruption of a promoter can release its partner enhancer to activate other promoters in the same contact domain, and this process, named ‘enhancer release and retargeting’, can often lead to gene alterations that cause disease.

    • Soohwan Oh
    • , Jiaofang Shao
    •  & Michael G. Rosenfeld

  • Article |

    Mapping enhancer regulation across human cell types and tissues illuminates genome function and provides a resource to connect risk variants for common diseases to their molecular and cellular functions.

    • Joseph Nasser
    • , Drew T. Bergman
    •  & Jesse M. Engreitz

  • Article |

    An ultra-high-throughput multiplex protein–DNA binding assay is used to assess binding of 270 human transcription factors to 95,886 noncoding variants in the human genome, providing data to improve prediction of the effects of noncoding variants on transcription factor binding and thereby increase understanding of molecular pathways involved in diverse human traits and genetic diseases.

    • Jian Yan
    • , Yunjiang Qiu
    •  & Bing Ren

  • Article |

    A genome-wide association study of critically ill patients with COVID-19 identifies genetic signals that relate to important host antiviral defence mechanisms and mediators of inflammatory organ damage that may be targeted by repurposing drug treatments.

    • Erola Pairo-Castineira
    • , Sara Clohisey
    •  & J. Kenneth Baillie

  • Article |

    Analysis of 97,691 high-coverage human blood DNA-derived whole-genome sequences enabled simultaneous identification of germline and somatic mutations that predispose individuals to clonal expansion of haematopoietic stem cells, indicating that both inherited and acquired mutations are linked to age-related cancers and coronary heart disease.

    • Alexander G. Bick
    • , Joshua S. Weinstock
    •  & Pradeep Natarajan

  • Article |

    A genome-wide association study shows that myocardial trabeculae are an important determinant of cardiac performance in the adult heart, identifies conserved pathways that regulate structural complexity and reveals the influence of trabeculae on the susceptibility to cardiovascular disease.

    • Hannah V. Meyer
    • , Timothy J. W. Dawes
    •  & Declan P. O’Regan

  • Article |

    Resequencing analyses of three species of wild sunflower identify large non-recombining haplotype blocks that correlate with ecologically relevant traits, soil and climate characteristics, and that differentiate species ecotypes.

    • Marco Todesco
    • , Gregory L. Owens
    •  & Loren H. Rieseberg

  • Article |

    Analysis of blood-derived DNA from participants in the UK Biobank demonstrates that clonal expansions of acquired copy-neutral loss of heterozygosity mutations act on inherited alleles along a chromosome arm by modifying their allelic dosages.

    • Po-Ru Loh
    • , Giulio Genovese
    •  & Steven A. McCarroll

  • Article |

    Population-specific patterns of genomic mutations and selection of haematopoietic clones in Japanese and European participants predict the divergent rates of chronic lymphocytic leukaemia and T cell leukaemia in these populations.

    • Chikashi Terao
    • , Akari Suzuki
    •  & Yoichiro Kamatani

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