Genome-wide association studies articles within Nature Reviews Nephrology

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  • Review Article |

    Mutations in ~35 genes have been identified as monogenic causes of kidney stone disease, and gene variants have been associated with stone disease in the general population. Here, the authors discuss the genetic and molecular basis of kidney stone disease and nephrocalcinosis.

    • Prince Singh
    • , Peter C. Harris
    •  & John C. Lieske

  • Year in Review |

    Genetic research in nephrology is rapidly advancing. Key studies published in 2020 demonstrate that genetic findings can provide new tools for patient diagnosis and risk stratification as well as important insights into kidney physiology and disease mechanisms that could potentially lead to novel therapies.

    • Anna Köttgen
    •  & Krzysztof Kiryluk

  • Review Article |

    Sullivan and Susztak examine the process of translating data on genetic variants associated with common kidney diseases into information about the underlying disease mechanisms. The authors propose that identification of causal variants, genetic regulatory mechanisms, target-gene products and disease-associated phenotypes is crucial to this process.

    • Katie Marie Sullivan
    •  & Katalin Susztak

  • News & Views |

    A recent metabolite genome-wide association study (mGWAS) investigated the relationship between genetic factors and the urine metabolome in kidney disease. The findings demonstrate that mGWAS hold promise for identifying novel genetic factors involved in adsorption, distribution, metabolism and excretion of metabolites and pharmaceuticals, as well as biomarkers for disease progression.

    • Daniel Montemayor
    •  & Kumar Sharma

  • Editorial |

    The increasing volumes of biological and clinical data have the potential to greatly enhance our understanding of the processes underlying kidney function and disease. However, maximizing outputs from these data requires a collaborative and open approach to data sharing that can only be achieved through united efforts by researchers, funders and publishers.

  • Comment |

    To advance kidney discovery, our community is driven to maximize the utility of genomic data that we all generate. We can best accomplish this through excellence in appropriately incorporating publicly available genomic data into our research efforts and by enthusiastically embracing widespread data sharing in a manner that facilitates its broad use.

    • Matthew G. Sampson
    •  & Hyun Min Kang

  • News & Views |

    A new study discovered thousands of expression quantitative trait loci (eQTLs) in the renal glomerular and tubulointerstitial compartments and integrated these data with other omics data sets to identify genes with roles in the pathogenesis of chronic kidney disease. This report reinforces the necessity of using compartment-derived eQTLs to advance kidney genomic discovery.

    • Matthew G. Sampson

  • News & Views |

    Pre-eclampsia is a common disorder of pregnancy for which the underlying mechanism is poorly understood. A genome-wide association study has now identified a pre-eclampsia susceptibility locus located near the FLT1 gene. This study brings us a step closer to dissecting the underlying causes of pre-eclampsia.

    • Eric M. George
    •  & Joey P. Granger

  • Review Article |

    Genome-wide association studies (GWAS) have shed light on the genetic basis of chronic kidney disease (CKD). Here, Matthias Wuttke and Anna Köttgen discuss the findings of GWAS of CKD-defining traits and of GWAS of specific CKD aetiologies and their follow-up experimental and epidemiological studies, as well as their implications for future study design.

    • Matthias Wuttke
    •  & Anna Köttgen

  • News & Views |

    Advances in genome sequencing and genetic manipulation techniques over the last decade have helped identify numerous single-gene causes of early-onset kidney diseases and risk alleles for complex, polygenic traits. Subsequent studies regarding the underlying disease mechanisms will help lead to personal genetic diagnoses and unique therapeutic interventions in the future.

    • Friedhelm Hildebrandt

  • Review Article |

    Congenital anomalies of the kidney and urinary tract (CAKUT) are a spectrum of renal disorders that commonly cause end-stage renal disease in children, but their genetic basis is largely unknown. In this Review, Nine Knoers et al. discuss the difficulties in identifying the genetic basis of CAKUT, the approaches used to detect genetic variants that confer risk of these anomalies, and the complex interplay between environmental factors, epigenetics, and genetic variants in contributing to the development of these syndromes.

    • Nayia Nicolaou
    • , Kirsten Y. Renkema
    •  & Nine V. A. M. Knoers

  • Review Article |

    Diabetes mellitus is often accompanied by numerous microvascular and/or macrovascular complications. Identification of risk alleles for diabetic complications could lead to improved understanding of the underlying mechanistic processes, but has so far been limited. Here, McCarthy and colleagues discuss the utility of human genetic studies in identifying novel risk variants for diabetic complications, the challenges faced in identifying robust genetic associations for diabetic kidney disease and the benefits that genome-wide association studies can offer.

    • Emma Ahlqvist
    • , Natalie R. van Zuydam
    •  & Mark I. McCarthy

  • Review Article |

    Genome-wide association studies (GWASs) have led to the identification of genes underlying renal traits such as glomerular filtration rate, and improved our understanding of the pathogenesis of chronic kidney disease. In this Review, O'Seaghdha and Fox discuss how GWASs have revolutionized genetic research, using several large-scale studies as examples, and explain how the knowledge derived from these studies can be applied to improve our understanding of the pathogenesis of kidney disease and to identify novel therapeutic targets.

    • Conall M. O'Seaghdha
    •  & Caroline S. Fox

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