A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology.

ABSTRACT: Blood cells contain functionally important intracellular structures, such as granules, critical to immunity and thrombosis. Quantitative variation in these structures has not been subjected previously to large-scale genetic analysis. We perform genome-wide association studies of 63 flow-cytometry derived cellular phenotypes-including cell-type specific measures of granularity, nucleic acid content and reactivity-in 41,515 participants in the INTERVAL study. We identify 2172 distinct variant-trait associations, including associations near genes coding for proteins in organelles implicated in inflammatory and thrombotic diseases. By integrating with epigenetic data we show that many intracellular structures are likely to be determined in immature precursor cells. By integrating with proteomi

SUBMITTER: Akbari P 

PROVIDER: S-EPMC10439125 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature