Genome-wide association studies (GWAS) have been instrumental in identifying multiple genetic variants associated with increased risk of various human diseases, including cancer and infections. Functional annotation of the associated genetic variants is complicated by the assumptions about their properties, which are often evaluated only in silico and out of biological and exposure context. Genetic variants associated with immune response are specifically difficult to evaluate because their effects might be transient and manifested only under specific conditions, such as during the acute phase of infection. Exploring these functional effects often requires recreating human-specific experimental conditions in vitro. The functional genetic variants also tend to be under genetic selection in populations that have been historically exposed to infections. Some examples will be discussed, including based on an ongoing study on the host response to SARS-CoV-2 infection and associated clinical implications and treatment options.

Genetic variants and their functional effects: transient and context-dependent but clinically and therapeutically meaningful

ACS Spring Meeting 2021

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