The effect of the LPA variant P.THR3888PRO on lipoprotein(a) and coronary artery disease is modified by the LPA KIV-2 splice site variant 4925g>A

R Grüneis,C Lamina,S Di Maio,S Schönherr,P Zöscher,L Forer,A Peters,C Gieger,A Köttgen,F Kronenberg,S Coassin

doi:10.1016/j.atherosclerosis.2022.06.399

The effect of the LPA variant P.THR3888PRO on lipoprotein(a) and coronary artery disease is modified by the LPA KIV-2 splice site variant 4925g>A

R Grüneis, C Lamina + Show 9 more

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https://doi.org/10.1016/j.atherosclerosis.2022.06.399

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Journal: Atherosclerosis

Publication Date: Aug 1, 2022

Affiliation: Universität Innsbruck, Helmholtz Zentrum München, German Center for Diabetes Research, University of Freiburg, Universitätsklinikum Erlangen

#Complex Copy Number Variation #Epistatic Mechanisms + Show 8 more

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Abstract

Background and Aims : Lipoprotein(a) [Lp(a)] plasma concentrations are mainly regulated by the LPA gene. Besides the KIV-2 repeat (a complex copy number variation), multiple SNPs pronouncedly modify Lp(a) levels (e.g. the recently described KIV-2 variant 4925G>A). However, little is known about non-linear and/or epistatic mechanisms and SNP interactions. Thus, we investigated the impact of the interaction between the largely investigated LPA variant p.Thr3888Pro (rs41272110) and the KIV-2 variant 4925G>A on Lp(a) concentration and CAD risk.

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