Arterial Elastance GWAS (UKB)

The dataset contains summary statistics from a genome-wide association study (GWAS) of effective arterial elastance (Ea), a vascular phenotype reflecting arterial load and ventricular–arterial coupling. The GWAS was performed using imaging-derived cardiovascular phenotypes from participants of the UK Biobank.

The discovery GWAS was conducted in 21,389 individuals of European ancestry from the UK Biobank with available cardiac magnetic resonance imaging (MRI). Genetic association analyses were performed using REGENIE, adjusting for age, sex, and the first three genetic principal components to account for population structure. Variants were filtered using standard quality control criteria, excluding those with minor allele frequency <1%, minor allele count <100, deviation from Hardy–Weinberg equilibrium (P < 1×10⁻⁶), or poor imputation quality. Genome-wide significance was defined at P < 5×10⁻⁸.

Effective arterial elastance (Ea) was calculated non-invasively from cardiac MRI–derived end-systolic pressure (0.9 x brachial systolic blood pressure) divided by LV stroke-volume.

The GWAS identified six independent genome-wide significant loci associated with arterial elastance, with the strongest association located at chromosome 12q24.11 near the SH2B3 gene. Functional annotation and gene mapping were performed using the SNP2GENE pipeline implemented in FUMA, incorporating positional mapping, expression quantitative trait loci (eQTL) mapping, and chromatin interaction data. Enrichment analyses highlighted pathways related to immune signalling and cardiometabolic regulation.

These summary statistics were subsequently used as genetic instruments in a two-sample Mendelian randomisation analysis investigating the potential causal effect of arterial elastance on hippocampal volume against summary statistics from the ENIGMA consortium GWAS of subcortical brain structures.

The data are provided on an “AS-IS” basis, without warranty of any kind, express or implied, including but not limited to warranties of performance, merchantability, or fitness for any particular purpose. If investigators use these data, any and all consequences are entirely their responsibility. By downloading and using these data, users agree that they will cite the associated publication in any communications or publications arising directly or indirectly from these data.

This research has been conducted using the UK Biobank Resource under application number 98729, and the use of these data is governed by the UK Biobank Access Procedures and ethical framework. Users must not attempt to identify any UK Biobank participant.