Minna Kaikkonen‑Määttä is Professor of Cardiovascular Genomics at the University of Eastern Finland and Vice Director of Research at A.I. Virtanen Institute for Molecular Sciences. She received her PhD in Molecular Medicine from the University of Kuopio in 2008. She completed her postdoctoral training at the University of California, San Diego, specializing in transcriptional regulation and enhancer RNAs.
In 2015, she established her own research group at the University of Eastern Finland, which now includes 20 researchers working across experimental and computational approaches and hosts the national Single Cell Genomics Core infrastructure. Her research investigates the genetic and cellular mechanisms underlying atherosclerosis and cardiometabolic diseases. The group uses a combination of cellular and genetic model systems, single-cell transcriptomics and epigenetics, high-throughput functional genomics, and bioinformatics to study regulatory mechanisms in vascular disease. Her work has been supported by major competitive funding, including consecutive ERC Starting and Consolidator Grants, the European Innovation Council, and the Research Council of Finland.
She has served as President of the Finnish Society of Atherosclerosis since 2021 and is an active member of the European Society of Cardiology Working Group on Atherosclerosis and Vascular Biology and the ESC Council on Cardiovascular Genomics. She has previously served on the boards of the European Vascular Biology Organization, the Scandinavian Society for Atherosclerosis Research, and the Membership Engagement Committee of the American Society of Human Genetics.
Decoding the Cellular and Spatial Architecture of Genetic Risk in Coronary Artery Disease
Coronary artery disease (CAD) is a highly polygenic condition, with over 400 genome-wide association study (GWAS) loci identified, the majority residing in noncoding regions with unclear functional roles . A key challenge in the field is translating these genetic associations into mechanistic insights that explain disease development and progression.
In this presentation, we integrate single-cell and spatial transcriptomics with functional genomics to map CAD genetic risk across cellular states and tissue architecture. We demonstrate that genetic risk is enriched in specific vascular cell populations, particularly smooth muscle cells (SMCs) undergoing phenotypic switching toward. Spatial analyses of human atherosclerotic plaques further reveal how these cell states are organized within the lesion microenvironment and associated with clinical outcomes such as symptom severity and major adverse cardiovascular events.
Through locus-specific functional studies, including CRISPR perturbation and regulatory variant analysis, we uncover mechanisms by which GWAS variants influence key processes such as SMC proliferation, extracellular matrix remodeling, and vascular development. These findings suggest that CAD risk is mediated through context-dependent gene regulation and may, in part, originate from developmental pathways.
Finally, we highlight how pathway-level integration of genetic data enables improved risk stratification using polygenic risk scores and identifies patient subgroups most likely to benefit from targeted therapies. Together, this work provides a framework for moving from genetic associations to actionable biological insights and precision medicine in atherosclerosis.