HFE gene mutations in patients with rheumatoid arthritis

J. Li, Y. Zhu, D. P. Singal

Research output: Contribution to journalArticlepeer-review


Objective. To investigate the role of C282Y and H63D mutations in HFE gene in susceptibility to rheumatoid arthritis (RA). Methods. The distribution of C282Y and H63D mutations i 1 patients with RA and in healthy subjects was examined by restriction endonuclease digestion of polymerase chain reaction amplified genomic DNA. Results. The prevalence of C282Y mutation in patients with RA was the same as in healthy controls. In contrast, the distribution of H63D mutation was significantly higher in the total RA patient population and in DRB1 QKRAA/QRRAA epitope positive patients compared to respective groups of controls. Analysis of data showed that (1) both H63D mutation and QKRAA/QRRAA DRB1 epitope are individually associated with RA susceptibility; (2) there is interaction between these 2 factors in development of RA; and (3) both these factors combined have stronger association with RA susceptibility than with these factors individually. Conclusion. H63D mutation appears to play a role in pathogenesis of RA. This study is small and must be regarded as preliminary. These data therefore need confirmation from independent studies.

Original languageEnglish (US)
Pages (from-to)2074-2077
Number of pages4
JournalJournal of Rheumatology
Issue number9
StatePublished - Sep 28 2000
Externally publishedYes


  • C282Y
  • H63D
  • HFE
  • Rheumatoid arthritis

ASJC Scopus subject areas

  • Rheumatology
  • Immunology and Allergy
  • Immunology

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