With the COVID-19 pandemic still raging worldwide, members of the American Society of Human Genetics (ASHG) are working to understand how the virus spreads and infects people, why there is so much variability in susceptibility and severity, and where to look for potential therapeutics. On Wednesday, October 28, six researchers presented recent results of several studies relevant to the current pandemic at the ASHG 2020 Virtual Annual Meeting (October 27-30). So far, this meeting has attracted over 6,000 registrants from more than 80 countries around the world. Approximately 1,000 of these registrants tuned in for this special timely session titled “Late-Breaking COVID-19 Research Update.” COVID-19 symptoms vary widely, ranging from asymptomatic in some patients to fatal in others. Elucidating the role of human genetic variation could result in a better understanding of susceptibility to infection, as well as of differences in patient presentation and outcomes. Three studies addressed human genetics and COVID-19 susceptibility and severity. In the first, Jack Kosmicki, Regeneron Genetics Center, and colleagues presented the results of the largest trans-ancestry exome sequencing study of COVID-19 to date. In a replication of previous findings, the researchers identified the 3p21.31 locus and suggested it contributes to variability in severity. The group failed to replicate an association between COVID-19 and the ABO locus, suggesting that the previous finding may have been a false positive. Beyond previously reported associations, Kosmicki and colleagues also identified three novel loci and three genes associated with COVID-19.
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