We analysed if measuring PWV in different segments of the body leads to association with different genetic variants, as well as different heritability and different genetic correlation with other biological traits. Furthermore we searched for shared genetic architecture concerning PWV, blood pressure (BP) and coronary artery disease (CAD) and examined the causal relationship between PWV and BP.
We evaluated if the PhenoMan returns correct/complete result sets and if it is working with real data. To simulate a FHIR health data store with real data we used Synthea(TM) to generate a large data set and imported it into a HAPI FHIR JPA Server. Based on the synthetic data set we developed ten example queries with different structure and complexity with PhenoMan and SQL. We compared the results of the queries in means of execution time and equality of results.
The detailed steps of the evaluation
Person responsible: Christoph Beger
Snapshots: No snapshots
Study type: Not specified
We defined six operationalizations of CPB considering plaques in common carotid arteries, carotid bulb, and internal carotid arteries (maximal plaque area, mean plaque area, sum of plaque areas at all six regions, maximal degree of stenosis, mean degree of stenosis, and sum of stenosis at all six regions).
Link to publication (PMID, DOI), Supplemental Figures and Tables, and Summary Statistics of GWAS will be made available upon acceptance of our manuscript.
Supplement Data for Publication including Supplement Material & Results (eQTL annotation, Mendelian Randomization (MR), further significant loci), Figures (correlation plot of steroid hormones, scatter plot of genetic effect sizes, regional association plots, scatter plots of MR) and Tables (Correlations, GWAS summary statistics, interaction tests, MR results)