Genetic background of anticyclic citrullinated peptide autoantibody production in Hungarian patients with rheumatoid arthritis

Gyula Poór, Zsolt B. Nagy, Zsuzsanna Schmidt, Márta Brózik, Katalin Merétey, Péter Gergely

Research output: Chapter in Book/Report/Conference proceedingConference contribution

27 Citations (Scopus)


Polymorphisms of the peptidylarginine deiminase 4 (PADI4) gene encoding for the isoenzyme that converts arginyl into citrullyl residues have been shown to contribute to susceptibility to rheumatoid arthritis (RA), depending on the population studied. We aimed at determining whether PADI4 single nucleotide polymorphisms (SNPs) are associated with RA in a Hungarian population. The relationship between anticyclic citrullinated peptide (anti-CCP) production and HLA-DRB1 alleles encoding the shared epitope (SE) was also investigated. DNA samples were obtained from RA (n = 261) patients and from control donors (n=120). HLA-DRB1 genotyping was carried out by polymerase chain reaction (PCR) with sequence-specific priming. PAD4_92 G/C and PAD4_104 T/C SNPs were genotyped using real-time PCR allele discrimination. Autoantibodies against CCP were detected by ELISA. All healthy controls tested anti-CCP negative, whereas 171 (66%) RA patients were anti-CCP positive. No significant difference in allele or genotype frequencies were found between RA patients and controls for any of the PADI4 SNPs. Anti-CCP seropositivity was unrelated to these two SNPs. No association was found between any of the PADI4 SNPs and HLA-DRB1 subtypes. Presence of the HLA-RB1 SE alleles was significantly associated with anti-CCP seropositivity; HLA-DRB1*0401 and HLA-DRB1*1001 carriers showed the strongest association. In conclusion, our data suggest that polymorphisms of the PADI4 gene are not associated with rheumatoid arthritis and are unlikely to be responsible for the presence of anti-CCP autoantibodies in a white Hungarian population. HLA-DRB1 SE alleles, however, may significantly contribute to the genetic determination of anti-CCP production in Hungarian patients with RA.

Original languageEnglish
Title of host publicationAutoimmunity, Part B Novel Applications of Basic Research
PublisherBlackwell Publishing Inc.
Number of pages10
ISBN (Print)1573317098, 9781573317092
Publication statusPublished - Sep 2007

Publication series

NameAnnals of the New York Academy of Sciences
ISSN (Print)0077-8923
ISSN (Electronic)1749-6632



  • Anti-CCP
  • HLA-DRB1
  • PADI4
  • Rheumatoid arthritis
  • Shared epitope

ASJC Scopus subject areas

  • Neuroscience(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • History and Philosophy of Science

Cite this

Poór, G., Nagy, Z. B., Schmidt, Z., Brózik, M., Merétey, K., & Gergely, P. (2007). Genetic background of anticyclic citrullinated peptide autoantibody production in Hungarian patients with rheumatoid arthritis. In Autoimmunity, Part B Novel Applications of Basic Research (pp. 23-32). (Annals of the New York Academy of Sciences; Vol. 1110). Blackwell Publishing Inc..