Mendelian randomization while jointly modeling cis genetics identifies causal relationships between gene expression and lipids

Nat Commun. 2020 Oct 1;11(1):4930. doi: 10.1038/s41467-020-18716-x.

Abstract

Inference of causality between gene expression and complex traits using Mendelian randomization (MR) is confounded by pleiotropy and linkage disequilibrium (LD) of gene-expression quantitative trait loci (eQTL). Here, we propose an MR method, MR-link, that accounts for unobserved pleiotropy and LD by leveraging information from individual-level data, even when only one eQTL variant is present. In simulations, MR-link shows false-positive rates close to expectation (median 0.05) and high power (up to 0.89), outperforming all other tested MR methods and coloc. Application of MR-link to low-density lipoprotein cholesterol (LDL-C) measurements in 12,449 individuals with expression and protein QTL summary statistics from blood and liver identifies 25 genes causally linked to LDL-C. These include the known SORT1 and ApoE genes as well as PVRL2, located in the APOE locus, for which a causal role in liver was not known. Our results showcase the strength of MR-link for transcriptome-wide causal inferences.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Vesicular Transport / genetics
  • Adaptor Proteins, Vesicular Transport / metabolism
  • Apolipoproteins E / genetics
  • Apolipoproteins E / metabolism
  • Cholesterol, LDL / blood*
  • Cholesterol, LDL / metabolism
  • Computer Simulation
  • Datasets as Topic
  • Gene Expression Regulation*
  • Genetic Pleiotropy
  • Genetic Predisposition to Disease*
  • Humans
  • Linkage Disequilibrium
  • Lipid Metabolism / genetics
  • Mendelian Randomization Analysis
  • Metabolic Networks and Pathways / genetics
  • Models, Genetic*
  • Multifactorial Inheritance
  • Nectins / genetics
  • Nectins / metabolism
  • Netherlands
  • Proteomics
  • Quantitative Trait Loci*
  • RNA-Seq

Substances

  • Adaptor Proteins, Vesicular Transport
  • ApoE protein, human
  • Apolipoproteins E
  • Cholesterol, LDL
  • NECTIN2 protein, human
  • Nectins
  • sortilin