Association between PADI4 and rheumatoid arthritis: a replication study.

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  • Additional Information
    • Source:
      Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 0370605 Publication Model: Print Cited Medium: Print ISSN: 0004-3591 (Print) Linking ISSN: 00043591 NLM ISO Abbreviation: Arthritis Rheum Subsets: MEDLINE
    • Publication Information:
      Publication: : Hoboken, N.J. : Wiley-Blackwell
      Original Publication: Atlanta [etc.] Arthritis Foundation [etc.]
    • Subject Terms:
      Polymorphism, Single Nucleotide*; Arthritis, Rheumatoid/*genetics ; Hydrolases/*genetics; Adult ; Aged ; Aged, 80 and over ; Arthritis, Rheumatoid/ethnology ; Female ; Genetic Predisposition to Disease ; Genotype ; Humans ; Japan ; Male ; Middle Aged ; Protein-Arginine Deiminase Type 4 ; Protein-Arginine Deiminases
    • Abstract:
      Objective: The peptidylarginine deiminase type 4 gene (PADI4) was recently reported to be associated with rheumatoid arthritis (RA) in a Japanese population. The presence of a single-nucleotide polymorphism (SNP) located in intron 3 of PADI4 provided the strongest evidence of this association. Moreover, functional haplotypes that affect stability of transcripts were identified. However, subsequent research failed to confirm the observed association in a UK population. The present study was undertaken to further investigate the association of PADI4 with RA, using a series of population-based samples from subjects with the same ethnic background as the subjects in the original study.
      Methods: DNA samples were obtained from 1,230 Japanese RA patients and 948 ethnically matched controls. Genotyping was performed using 5' allele discrimination assays. All samples were genotyped for 3 SNPs on PADI4 (padi4_94, padi4_104, and padi4_102), which comprised the reported haplotypes. Chi-square testing was performed for a case-control study and the PENHAPLO program was used for haplotype estimation.
      Results: All tested SNPs were found to show significant differences in frequency between cases and controls (P = 0.010-0.0008), which confirmed the association observed in the original study. Odds ratios calculated for allele frequencies were 1.23, 1.21, and 1.36 in padi4_94, padi4_104, and padi4_102 respectively.
      Conclusion: Replication of association in individual samples strongly suggests that PADI4 is a true susceptibility gene for RA.
    • Accession Number:
      EC 3.- (Hydrolases)
      EC 3.5.3.15 (PADI4 protein, human)
      EC 3.5.3.15 (Protein-Arginine Deiminase Type 4)
      EC 3.5.3.15 (Protein-Arginine Deiminases)
    • Publication Date:
      Date Created: 20051004 Date Completed: 20051108 Latest Revision: 20191210
    • Publication Date:
      20221213
    • Accession Number:
      10.1002/art.21309
    • Accession Number:
      16200584