Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.

Large-scale molecular profiling and genotyping provide a unique opportunity to systematically compare the genetically predicted effects of therapeutic targets on the human metabolome. We firstly constructed genetic risk scores for 8 drug targets on the basis that they primarily modify low-density li...

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Main Authors: Tom G Richardson, Genevieve M Leyden, Qin Wang, Joshua A Bell, Benjamin Elsworth, George Davey Smith, Michael V Holmes
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2022-02-01
Series:PLoS Biology
Online Access:https://journals.plos.org/plosbiology/article/file?id=10.1371/journal.pbio.3001547&type=printable
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author Tom G Richardson
Genevieve M Leyden
Qin Wang
Joshua A Bell
Benjamin Elsworth
George Davey Smith
Michael V Holmes
author_facet Tom G Richardson
Genevieve M Leyden
Qin Wang
Joshua A Bell
Benjamin Elsworth
George Davey Smith
Michael V Holmes
author_sort Tom G Richardson
collection DOAJ
description Large-scale molecular profiling and genotyping provide a unique opportunity to systematically compare the genetically predicted effects of therapeutic targets on the human metabolome. We firstly constructed genetic risk scores for 8 drug targets on the basis that they primarily modify low-density lipoprotein (LDL) cholesterol (HMGCR, PCKS9, and NPC1L1), high-density lipoprotein (HDL) cholesterol (CETP), or triglycerides (APOC3, ANGPTL3, ANGPTL4, and LPL). Conducting mendelian randomisation (MR) provided strong evidence of an effect of drug-based genetic scores on coronary artery disease (CAD) risk with the exception of ANGPTL3. We then systematically estimated the effects of each score on 249 metabolic traits derived using blood samples from an unprecedented sample size of up to 115,082 UK Biobank participants. Genetically predicted effects were generally consistent among drug targets, which were intended to modify the same lipoprotein lipid trait. For example, the linear fit for the MR estimates on all 249 metabolic traits for genetically predicted inhibition of LDL cholesterol lowering targets HMGCR and PCSK9 was r2 = 0.91. In contrast, comparisons between drug classes that were designed to modify discrete lipoprotein traits typically had very different effects on metabolic signatures (for instance, HMGCR versus each of the 4 triglyceride targets all had r2 < 0.02). Furthermore, we highlight this discrepancy for specific metabolic traits, for example, finding that LDL cholesterol lowering therapies typically had a weak effect on glycoprotein acetyls, a marker of inflammation, whereas triglyceride modifying therapies assessed provided evidence of a strong effect on lowering levels of this inflammatory biomarker. Our findings indicate that genetically predicted perturbations of these drug targets on the blood metabolome can drastically differ, despite largely consistent effects on risk of CAD, with potential implications for biomarkers in clinical development and measuring treatment response.
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spelling doaj-art-1aada819a60a4b11b8b9795af6ae1b622025-08-20T03:44:40ZengPublic Library of Science (PLoS)PLoS Biology1544-91731545-78852022-02-01202e300154710.1371/journal.pbio.3001547Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.Tom G RichardsonGenevieve M LeydenQin WangJoshua A BellBenjamin ElsworthGeorge Davey SmithMichael V HolmesLarge-scale molecular profiling and genotyping provide a unique opportunity to systematically compare the genetically predicted effects of therapeutic targets on the human metabolome. We firstly constructed genetic risk scores for 8 drug targets on the basis that they primarily modify low-density lipoprotein (LDL) cholesterol (HMGCR, PCKS9, and NPC1L1), high-density lipoprotein (HDL) cholesterol (CETP), or triglycerides (APOC3, ANGPTL3, ANGPTL4, and LPL). Conducting mendelian randomisation (MR) provided strong evidence of an effect of drug-based genetic scores on coronary artery disease (CAD) risk with the exception of ANGPTL3. We then systematically estimated the effects of each score on 249 metabolic traits derived using blood samples from an unprecedented sample size of up to 115,082 UK Biobank participants. Genetically predicted effects were generally consistent among drug targets, which were intended to modify the same lipoprotein lipid trait. For example, the linear fit for the MR estimates on all 249 metabolic traits for genetically predicted inhibition of LDL cholesterol lowering targets HMGCR and PCSK9 was r2 = 0.91. In contrast, comparisons between drug classes that were designed to modify discrete lipoprotein traits typically had very different effects on metabolic signatures (for instance, HMGCR versus each of the 4 triglyceride targets all had r2 < 0.02). Furthermore, we highlight this discrepancy for specific metabolic traits, for example, finding that LDL cholesterol lowering therapies typically had a weak effect on glycoprotein acetyls, a marker of inflammation, whereas triglyceride modifying therapies assessed provided evidence of a strong effect on lowering levels of this inflammatory biomarker. Our findings indicate that genetically predicted perturbations of these drug targets on the blood metabolome can drastically differ, despite largely consistent effects on risk of CAD, with potential implications for biomarkers in clinical development and measuring treatment response.https://journals.plos.org/plosbiology/article/file?id=10.1371/journal.pbio.3001547&type=printable
spellingShingle Tom G Richardson
Genevieve M Leyden
Qin Wang
Joshua A Bell
Benjamin Elsworth
George Davey Smith
Michael V Holmes
Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.
PLoS Biology
title Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.
title_full Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.
title_fullStr Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.
title_full_unstemmed Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.
title_short Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.
title_sort characterising metabolomic signatures of lipid modifying therapies through drug target mendelian randomisation
url https://journals.plos.org/plosbiology/article/file?id=10.1371/journal.pbio.3001547&type=printable
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