Abundant genetic overlap between blood lipids and immune-mediated diseases indicates shared molecular genetic mechanisms

PLoS One. 2015 Apr 8;10(4):e0123057. doi: 10.1371/journal.pone.0123057. eCollection 2015.

Abstract

Epidemiological studies suggest a relationship between blood lipids and immune-mediated diseases, but the nature of these associations is not well understood. We used genome-wide association studies (GWAS) to investigate shared single nucleotide polymorphisms (SNPs) between blood lipids and immune-mediated diseases. We analyzed data from GWAS (n~200,000 individuals), applying new False Discovery Rate (FDR) methods, to investigate genetic overlap between blood lipid levels [triglycerides (TG), low density lipoproteins (LDL), high density lipoproteins (HDL)] and a selection of archetypal immune-mediated diseases (Crohn's disease, ulcerative colitis, rheumatoid arthritis, type 1 diabetes, celiac disease, psoriasis and sarcoidosis). We found significant polygenic pleiotropy between the blood lipids and all the investigated immune-mediated diseases. We discovered several shared risk loci between the immune-mediated diseases and TG (n = 88), LDL (n = 87) and HDL (n = 52). Three-way analyses differentiated the pattern of pleiotropy among the immune-mediated diseases. The new pleiotropic loci increased the number of functional gene network nodes representing blood lipid loci by 40%. Pathway analyses implicated several novel shared mechanisms for immune pathogenesis and lipid biology, including glycosphingolipid synthesis (e.g. FUT2) and intestinal host-microbe interactions (e.g. ATG16L1). We demonstrate a shared genetic basis for blood lipids and immune-mediated diseases independent of environmental factors. Our findings provide novel mechanistic insights into dyslipidemia and immune-mediated diseases and may have implications for therapeutic trials involving lipid-lowering and anti-inflammatory agents.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Autoimmune Diseases / blood
  • Autoimmune Diseases / genetics*
  • Genetic Loci
  • Genetic Pleiotropy
  • Genome-Wide Association Study
  • Histocompatibility Antigens Class I / genetics
  • Histocompatibility Antigens Class II / genetics
  • Humans
  • Inflammatory Bowel Diseases / blood
  • Inflammatory Bowel Diseases / genetics
  • Lipoproteins, HDL / blood
  • Lipoproteins, LDL / blood*
  • Polymorphism, Single Nucleotide
  • Triglycerides / blood*

Substances

  • Histocompatibility Antigens Class I
  • Histocompatibility Antigens Class II
  • Lipoproteins, HDL
  • Lipoproteins, LDL
  • Triglycerides