Genetic association of htSNPs across the major histocompatibility complex with rheumatoid arthritis in an African-American population.

Academic Article


  • Notwithstanding the well-established association of HLA-DRB1 shared epitope alleles, interest remains in identifying additional major histocompatibility complex (MHC) region variants associated with rheumatoid arthritis (RA). We used a panel of 1201 haplotype-tagging single nucleotide polymorphisms (SNPs) designed for African Americans to find genetic variants associated with RA in a 3.8-Mb region encompassing the MHC. Conditioning on seven covariates, including HLA-DRB1 risk alleles and population structure, we identified an SNP in HLA-DOA (rs9276977) significantly associated with RA; minor allele frequency (MAF) 0.27 in cases versus 0.21 in controls, odds ratio (+/-95% confidence interval)=2.86 (1.61, 5.31). Genotyping of rs9276977 in an independent sample of African-American RA patients and controls did not replicate the association (MAF 0.28 in cases versus 0.27 in controls). This study points to the potential association of a SNP in the HLA-DOA gene with RA in African Americans, but also underscores the importance of replication of findings in larger patient cohorts.
  • Published In

  • Genes and Immunity  Journal
  • Keywords

  • African Americans, Alleles, Arthritis, Rheumatoid, Cohort Studies, Female, Gene Frequency, HLA-D Antigens, HLA-DR Antigens, HLA-DRB1 Chains, Humans, Male, Polymorphism, Single Nucleotide
  • Digital Object Identifier (doi)

    Author List

  • Reynolds RJ; Kelley JM; Hughes LB; Yi N; Bridges SL; CLEAR Investigators
  • Start Page

  • 94
  • End Page

  • 97
  • Volume

  • 11
  • Issue

  • 1