The influence of polygenic risk scores on heritability of anti-CCP level in RA

Genes Immun. 2014 Mar;15(2):107-14. doi: 10.1038/gene.2013.68. Epub 2014 Jan 2.

Abstract

The objective of this study was to study genetic factors that influence quantitative anticyclic citrullinated peptide (anti-CCP) antibody levels in RA patients. We carried out a genome-wide association study (GWAS) meta-analysis using 1975 anti-CCP+ RA patients from three large cohorts, the Brigham Rheumatoid Arthritis Sequential Study (BRASS), North American Rheumatoid Arthritis Consortium (NARAC) and the Epidemiological Investigation of RA (EIRA). We also carried out a genome-wide complex trait analysis (GCTA) to estimate the heritability of anti-CCP levels. GWAS-meta-analysis showed that anti-CCP levels were most strongly associated with the human leukocyte antigen (HLA) region with a P-value of 2 × 10(-11) for rs1980493. There were 112 SNPs in this region that exceeded the genome-wide significance threshold of 5 × 10(-8), and all were in linkage disequilibrium (LD) with the HLA- DRB1*03 allele with LD r(2) in the range of 0.25-0.88. Suggestive novel associations outside of the HLA region were also observed for rs8063248 (near the GP2 gene) with a P-value of 3 × 10(-7). None of the known RA risk alleles (∼52 loci) were associated with anti-CCP level. Heritability analysis estimated that 44% of anti-CCP variation was attributable to genetic factors captured by GWAS variants. In summary, anti-CCP level is a heritable trait, and HLA-DR3 and GP2 are associated with lower anti-CCP levels.

Publication types

  • Meta-Analysis
  • Observational Study

MeSH terms

  • Arthritis, Rheumatoid / genetics*
  • Arthritis, Rheumatoid / immunology*
  • Autoantibodies / immunology*
  • Case-Control Studies
  • Cohort Studies
  • Female
  • GPI-Linked Proteins / genetics
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study
  • HLA-DR3 Antigen / genetics
  • HLA-DR3 Antigen / immunology
  • HLA-DRB1 Chains / genetics
  • HLA-DRB1 Chains / immunology
  • Humans
  • Linkage Disequilibrium
  • Male
  • Middle Aged
  • Models, Genetic
  • Peptides, Cyclic / immunology*
  • Polymorphism, Single Nucleotide
  • Prospective Studies

Substances

  • Autoantibodies
  • GP2 protein, human
  • GPI-Linked Proteins
  • HLA-DR3 Antigen
  • HLA-DRB1 Chains
  • Peptides, Cyclic
  • cyclic citrullinated peptide