A genome-wide association study of IgM antibody against phosphorylcholine: shared genetics and phenotypic relationship to chronic lymphocytic leukemia

Hum Mol Genet. 2018 May 15;27(10):1809-1818. doi: 10.1093/hmg/ddy094.

Abstract

Phosphorylcholine (PC) is an epitope on oxidized low-density lipoprotein (oxLDL), apoptotic cells and several pathogens like Streptococcus pneumoniae. Immunoglobulin M against PC (IgM anti-PC) has the ability to inhibit uptake of oxLDL by macrophages and increase clearance of apoptotic cells. From our genome-wide association studies (GWASs) in four European-ancestry cohorts, six single nucleotide polymorphisms (SNPs) in 11q24.1 were discovered (in 3002 individuals) and replicated (in 646 individuals) to be associated with serum level of IgM anti-PC (the leading SNP rs35923643-G, combined β = 0.19, 95% confidence interval 0.13-0.24, P = 4.3 × 10-11). The haplotype tagged by rs35923643-G (or its proxy SNP rs735665-A) is also known as the top risk allele for chronic lymphocytic leukemia (CLL), and a main increasing allele for general IgM. By using summary GWAS results of IgM anti-PC and CLL in the polygenic risk score (PRS) analysis, PRS on the basis of IgM anti-PC risk alleles positively associated with CLL risk (explained 0.6% of CLL variance, P = 1.2 × 10-15). Functional prediction suggested that rs35923643-G might impede the binding of Runt-related transcription factor 3, a tumor suppressor playing a central role in the immune regulation of cancers. Contrary to the expectations from the shared genetics between IgM anti-PC and CLL, an inverse relationship at the phenotypic level was found in a nested case-control study (30 CLL cases with 90 age- and sex-matched controls), potentially reflecting reverse causation. The suggested function of the top variant as well as the phenotypic association between IgM anti-PC and CLL risk needs replication and motivates further studies.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Antibodies / blood*
  • Antibodies / genetics
  • Apoptosis / genetics
  • Core Binding Factor Alpha 3 Subunit / genetics*
  • Epitopes / blood
  • Epitopes / genetics
  • Epitopes / immunology
  • Female
  • Genome-Wide Association Study
  • Haplotypes
  • Humans
  • Immunoglobulin M / blood
  • Immunoglobulin M / genetics*
  • Immunoglobulin M / immunology
  • Leukemia, Lymphocytic, Chronic, B-Cell / blood
  • Leukemia, Lymphocytic, Chronic, B-Cell / genetics*
  • Leukemia, Lymphocytic, Chronic, B-Cell / immunology
  • Lipoproteins, LDL / blood
  • Lipoproteins, LDL / genetics
  • Lipoproteins, LDL / immunology
  • Macrophages / immunology
  • Male
  • Middle Aged
  • Phosphorylcholine / blood*
  • Phosphorylcholine / immunology
  • Polymorphism, Single Nucleotide / genetics

Substances

  • Antibodies
  • Core Binding Factor Alpha 3 Subunit
  • Epitopes
  • Immunoglobulin M
  • Lipoproteins, LDL
  • Runx3 protein, human
  • oxidized low density lipoprotein
  • Phosphorylcholine