rs11947397 - MAPRE1P2 - RPL31P31

Magnitude 2.2 · 1 study on file

Reported associations

• Genetic Regulation of PCSK9 (Proprotein Convertase Subtilisin/Kexin Type 9) Plasma Levels and Its Impact on Atherosclerotic Vascular Disease Phenotypes. - Circulation. Genomic and precision medicine (2019) · Pott J, Schlegel V, Teren A, Horn K, Kirsten H, Bluecher C, Kratzsch J, Loeffler M, Thiery J, Burkhardt R, Scholz M · PubMed 29748315

  Inhibition of PCSK9 (proprotein convertase subtilisin/kexin type 9) is a novel strategy to treat hypercholesterolemia and reduce cardiovascular events. However, the potential role of circulating plasma PCSK9 concentrations as a diagnostic and predictive biomarker remains uncertain as of now. Here, we aimed to identify genetic variants associated with plasma PCSK9 and investigate possible causal effects on atherosclerotic vascular disease phenotypes. We performed the first genome-wide association study of plasma PCSK9 levels in a cohort of suspected and confirmed coronary artery disease (LIFE-Heart; n=3290). Several independent variants at the gene locus were associated with circulating PCSK9 levels at genome-wide significance (lead SNP rs11591147, PCSK9-R46L; =1.94×10 ). We discovered 4 i

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