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A massive effort links protein-coding gene variants to health

The protein-coding portions of more than 450,000 individuals’ genomes have been sequenced, and analysed together with the individuals’ health data, revealing rare and common gene variants linked to various health-related traits.
  1. Yukinori Okada

    1. Yukinori Okada is in the Department of Statistical Genetics, Osaka University Graduate School of Medicine, Suita 565-0871, Japan, and at the Laboratory for Systems Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.

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  2. Qingbo S. Wang

    1. Qingbo S. Wang is in the Department of Statistical Genetics, Osaka University Graduate School of Medicine, Suita 565-0871, Japan.

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To link genetic variations to human health, we need to collect genetic data and health-related information from as many individuals, and in as much detail, as possible. The principles of such association testing are long-standing1, and the field of human genomics has expanded in scale and quality in the past few decades. Writing in Nature, Backman et al.2 report a new milestone. They have analysed the protein-coding parts of the genome — called the exome — of more than 450,000 individuals whose health and genetic data have been collected in the UK Biobank, identifying 12.3 million variants that lead to changes in the encoded protein, which are known as coding variants. The authors then tested these variants for associations with 3,994 health-related traits (health phenotypes) and found 8,865 such associations (Fig. 1). This work is on an unprecedented scale in terms of the number of participants and the quantity of genetic and clinical data gathered.

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Nature 599, 561-563 (2021)

doi: https://doi.org/10.1038/d41586-021-02873-0

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Competing Interests

The authors declare no competing interests.

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