A rare ORAI1 missense variant associates with risk of vascular diseases in White British adults.

ABSTRACT:

Background

Pathological remodelling of native vascular smooth muscle cells (VSMC) within the arterial wall is a key contributor to vascular disease. A driver of this remodelling is platelet-derived growth factor BB (PDGF-BB) and its signalling via activation of the store-operated calcium ion channel, ORAI1. Here, we investigated if there are associations of ORAI1 polymorphisms with human cardiovascular disease.

Methods and results

We conducted candidate gene association analysis and revealed that a missense ORAI1 variant (rs3741596, S218G) associates with an increased risk of hospital-diagnosed peripheral vascular disease, generalised atherosclerosis, acute ischaemic heart disease, and atrioventricular and left bundle-branch block in White British UK Biobank participants. Rs

SUBMITTER: Shawer H 

PROVIDER: S-EPMC12904380 | biostudies-literature | 2026

REPOSITORIES: biostudies-literature