Gene-centric analysis identifies variants associated with interleukin-6 levels and shared pathways with other inflammation markers

Circ Cardiovasc Genet. 2013 Apr;6(2):163-70. doi: 10.1161/CIRCGENETICS.112.964254. Epub 2013 Mar 16.

Abstract

BACKGROUND- Inflammatory cytokine interleukin-6 (IL-6), a possible risk factor for coronary heart disease, has an estimated heritability of >60%, but to date few genetic variants influencing IL-6 levels are known. METHODS AND RESULTS- We used the ITMAT-Broad-Care (IBC) HumanCVD disease BeadChip in the Whitehall II study (N=4911) and British Women's Heart and Health Study (N=3445) to identify single-nucleotide polymorphisms associated with circulating IL-6 levels. Twenty-two single-nucleotide polymorphisms from 7 loci (IL6R/TDRD10, HLA-DRB1, BUD13, SEZ6L, IL1RN, TRIB3, and ABO) were associated with IL-6 (P<10(-5)), although none were associated with the IL6 gene itself. With the exception of TRIB3, all loci have been previously reported in genome-wide association studies for autoimmune and cardiovascular diseases. Fourteen single-nucleotide polymorphisms in the IL6R region in high-linkage disequilibrium (r(2)>0.9) with a nonsynonymous variant, rs2228145, were also associated with IL-6 and C-reactive protein concentration (P<10(-5)). An IL-6-specific weighted allele score explained 2% of the variance of log IL-6 levels (P=2.4410(-22)) in Whitehall II and 1% (P=1.910(-8)) in British Women's Heart and Health Studies. CONCLUSIONS- Multiple common genetic variants of modest effect influence IL-6 concentration. Several loci contain single-nucleotide polymorphisms, exhibiting overlapping associations with autoimmune and cardiovascular disorders and other circulating biomarkers. Genetic variants associated with IL-6 provide important tools for probing the causal relevance of IL-6 signaling in a range of cardiometabolic diseases.

Publication types

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

MeSH terms

  • Aged
  • Alleles
  • Autoimmune Diseases / genetics
  • Autoimmune Diseases / metabolism
  • Autoimmune Diseases / pathology
  • Biomarkers / blood
  • C-Reactive Protein / analysis
  • Coronary Artery Disease / genetics
  • Coronary Artery Disease / metabolism
  • Coronary Artery Disease / pathology
  • Female
  • Genetic Loci
  • Genome-Wide Association Study
  • Genotype
  • Humans
  • Inflammation* / metabolism
  • Interleukin-6 / blood
  • Interleukin-6 / genetics*
  • Linkage Disequilibrium
  • Male
  • Middle Aged
  • Phenotype
  • Polymorphism, Single Nucleotide
  • Receptors, Interleukin-6 / genetics
  • Risk Factors

Substances

  • Biomarkers
  • Interleukin-6
  • Receptors, Interleukin-6
  • C-Reactive Protein