Preprint identifies COL21A1 and ENPEP–FGF5 regulatory pathways for blood pressure variation in East Asians

A preprint posted to bioRxiv by researchers working with the Singapore Chinese Health Study (SCHS) — a prospective population-based cohort of 27,308 participants — presents integrative genomic analyses of five blood pressure-related traits: hypertension status, systolic blood pressure, diastolic blood pressure, mean arterial pressure, and pulse pressure.

The analyses identify putative regulatory roles for two genetic loci: COL21A1, which encodes a collagen isoform with roles in vascular extracellular matrix organisation, and a locus encompassing ENPEP and FGF5, genes previously implicated in blood pressure regulation in other populations. The authors apply integrative methods combining genome-wide association data with tissue-specific expression quantitative trait loci (eQTL) information to prioritise candidate regulatory genes and mechanisms.

The study is notable for its focus on an East Asian population; much GWAS-derived genetic architecture for blood pressure has been characterised primarily in European-ancestry cohorts, and population-specific analyses can reveal both shared and divergent loci. The finding that FGF5 regulatory pathways are implicated is consistent with prior work in other populations; the COL21A1 association warrants replication.

This is a preprint and has not undergone peer review. Findings should be interpreted with appropriate caution pending independent replication and formal publication.