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.
Behçet's disease is a systemic disease characterized by oral aphta, genital ulcers, and ocular lesions, and arthritic manifestations also appear to be common. However, this disease rarely produces loss of function or deformity in arthritic joints. We report the case of a 52-year-old woman with Behçet's disease who had a history of recurrent oral aphta, genital ulcerations, and intestinal lesions for almost 30 years. When she was about 30 years old, she began to notice significant morning stiffness and polyarthritis, and progressive destructive arthritic changes in the bilateral fingers, wrists, and left ankle. Behçet's disease with severe destructive arthritic changes is rare, and the underlying mechanism is still unknown.
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