Research press release


Nature Genetics

COVID-19: Identifying genetic susceptibility to COVID-19 based on self-reported outcomes



今回、Kristin Randたちは、DNA検査会社の米国内の顧客(73万6723人、年齢中央値57歳、女性67%)から回収したCOVID-19の転帰に関する質問票を分析した。Randたちは、これらの遺伝的データと質問票調査データを用いて、以前に研究対象となった重症化リスクに関連する表現型(4種類)を解析した。また、Randたちは、家庭内でのSARS-CoV-2への曝露後の感染リスクと重症化に対して防御的効果を持つ表現型(3種類)を新たに定義した。この新しく特定された表現型が関連する領域は、COVID-19のリスクを低下させる効果に関与しており、治療介入の有用な標的となる可能性がある。


Three newly-defined phenotypes (observable characteristics or traits for an individual) that capture genetic associations which may provide protection against SARS-CoV-2, are presented in a study published in Nature Genetics. The findings — revealed through the analysis of self-reported outcomes of COVID-19 from over 700,000 customers in the United States of a DNA testing company — suggest that this method of data collection can complement clinical studies of COVID-19, notably for milder cases of the disease.

Genetic association studies can help to identify the genes and biological pathways underlying a given physical outcome or trait. Large-scale genetic studies of susceptibility to COVID-19 have focused on severe disease that is associated with hospitalisation. However, most infections with SARS-CoV-2 do not lead to severe disease, and although many clinical risk factors — such as age, body-mass index or sex — are known, these do not fully explain the variation in outcomes.

Kristin Rand and colleagues analysed self-reported outcomes of COVID-19 in questionnaires collected from 736,723 customers in the United States of a DNA testing company (median age of 57 years; 67% female). Using these genetic and survey data, the authors analysed four previously studied phenotypes related to the risk of developing severe disease. The team also defined three new, protective phenotypes related to the risk of infection following household exposure to SARS-CoV-2 and to symptom severity. These newly-identified phenotypes are associated with regions of the genetic code that reduce the risk of COVID-19 and therefore may be useful targets for therapeutic intervention.

This research demonstrates that large-scale, survey-based analysis of direct-to-consumer testing can complement traditional studies in hospitalised populations — an approach that the authors suggest could be applied to other diseases going forward.

doi: 10.1038/s41588-022-01042-x

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