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Honkanen, J.

Publications and source records attributed to Honkanen, J..

2 recordsLinked to original sources

Blood donor biobank pipeline to collect genome-based samples for research

The integration of genome data with electronic health records, driven by large biobank studies, has advanced human genetics by allowing systematic exploration of genotype-phenotype links. Regular donation enables large, longitudinal sample cohorts. Because blood donors are generally healthy, disease treatments or progression do not disturb interpretations in functional studies. We describe here a pipeline on how to collect blood donors high quality plasma, serum, and living cell samples for multi-omics studies. Peripheral blood mononuclear cells (PBMC) were frozen and, after thawing, contained standard levels of immune cell subpopulations, responded to immune activation, and were of good quality starting material for multi-omics and cell imaging studies. We demonstrate that most genetic variants of interest to the major genomics study in Finland, FinnGen, could be found by random collection of samples during the standard blood donation without recall. Probing simple associations in the multi-omics data confirmed expected associations with e.g. age and sex, demonstrating good sample quality. As an example of interesting findings, we observed a significant association between frequent blood donation and lower levels of per- and polyfluoroalkyl substances (PFAS). The study demonstrates that regular blood donors are a suitable target population for high-quality, cost-effective sample collections.

molecular biology↗

Morphological single-cell analysis of peripheral blood mononuclear cells from 390 healthy blood donors with Blood Cell Painting

The morphological diversity of blood immune cells of healthy individuals, critical for recognizing disease-related phenotypes, remains largely uncharacterized. To address this gap, we developed Blood Cell Painting (BCP): a high content, high throughput fluorescence imaging assay for peripheral blood mononuclear cells. We generated a BCP Atlas with images of 50 million cells from 390 healthy blood donors, identifying 18 distinct immune cell morphology clusters. A genome-wide association study of BCP-derived imaging-based cellular features revealed 93 significant associations across 30 genetic loci. These loci include genes linked to mast cell function, inflammation, immune signaling, mitochondrial maintenance and circadian immune modulation. We also observed correlations between immune cell morphological features and clinical traits, such as respiratory conditions and healthcare visits related to contraceptive management, potentially reflecting hormonal influences on immune cell phenotypes. As a proof of concept for clinical application, acute myeloid leukemia subtypes were distinguished by BCP. Our study establishes BCP as a versatile method for immune cell profiling to uncover genetic, phenotypic and clinical determinants of immune cell morphology in health and disease.

cell biology↗