Lp(a) and UK Biobank

About

In this project, our goals are (1) to analyse the KIV-2 LPA region in the UK Biobank exome data using novel variant calling strategies in combination with the corresponding Lp(a) concentrations to identify associations between LPA variants and Lp(a) levels as well as clinical endpoints such as cardiovascular, diabetes or chronic kidney disease endpoints, (2) to identify other camouflaged regions similar to LPA using computational approaches and (3) to provide researchers a computational pipeline to analyse other repetitive genome regions.

Principal Investigator (PI)

Sebastian Schönherr, Dr.techn.
Professor of Digital and Computational Genomics

+43 512 9003 70579
sebastian.schoenherr@i-med.ac.at
Stefan Coassin, PhD
Assistant Professor

+43 512 9003 70576
stefan.coassin@i-med.ac.at
Florian Kronenberg, MD, MAE
Full Professor

+43 512 9003 70560
florian.kronenberg@i-med.ac.at

Team

Silvia Di Maio, Dott. mag.
PhD Student

+43 512 9003 70567
silvia.di-maio@i-med.ac.at
Lukas Forer, PhD
Assistant Professor of Genome Informatics

+43 512 9003 70562
lukas.forer@i-med.ac.at
Johanna Schachtl-Rieß, PhD
Postdoc

+43 512 9003 70569
johanna.schachtl-riess@i-med.ac.at

Publications using UK-Biobank

Di Maio S, Lamina C, Coassin S, Forer L, Würzner R, Schönherr S, Kronenberg F: Lipoprotein(a) and SARS-CoV-2 infections: Susceptibility to infections, ischemic heart disease and thromboembolic events. J. Intern. Med. 291:101-107, 2022. PMID: 34096654

Schachtl-Riess JF, Kheirkhah A, Grüneis R, Di Maio S, Schoenherr S, Streiter G, Losso JL, Paulweber B, Eckardt KU, Köttgen A, Lamina C, Kronenberg F, Coassin S, GCKD Investigators: Frequent LPA KIV-2 variants lower lipoprotein(a) concentrations and protect against coronary artery disease. J. Am. Coll. Cardiol. 78:437-449, 2021. PMID: 34325833

Grüneis R, Lamina C, Di Maio S, Schönherr S, Zoescher P, Forer L, Streiter G, Peters A, Gieger C, Köttgen A, Kronenberg F, Coassin S: The effect of LPA Thr3888Pro on lipoprotein(a) and coronary artery disease is modified by the LPA KIV-2 variant 4925G>A. Atherosclerosis 349:151-159, 2022. PMID: 35534298