Arterial stiffening contributes to vascular aging and develops early in people with type 1 diabetes, yet its genetic basis remains unclear. The first genome-wide association study (GWAS) to address this, presented at European Association for the Study of Diabetes (EASD) 2025, investigated heritability and genetic variants linked to arterial stiffness.

The analysis included 5,180 participants from the Finnish Diabetic Nephropathy Study. Peripheral pulse pressure served as the main indicator, alongside augmentation index and pulse wave velocity. Heritability of pulse pressure was 18%, indicating a moderate genetic component. Of 25 suggestively associated variants, five were replicated in external cohorts.

A rare USP20 gene variant, involved in deubiquitination of hypoxia-inducible factor 1α and β₂-adrenergic receptor regulation, demonstrated a protective association with arterial stiffness and replicated in the UK Biobank. These results support USP20 as a potential contributor to vascular resilience in diabetes and underscore the need for further mechanistic studies.