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Review
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Korean J Med. 2006;71(1):195-195.
- PADI4 Polymorphisms in Rheumatoid Arthritis
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Ji Min Kim, Sung Il Kim, Wan Hee Ryo, Sang Il Lee, Jun Hee Lee, So Young Kim, Kyung Hoon Kim, Jang Hee Cho, Seung Woo Han, Eon Jong Nam, Gun Woo Kim, and Young Mo Kang
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- PADI4 Polymorphisms in Rheumatoid Arthritis
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, , , , , , , , , , ,
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Laboratory of Endocrine Cell Biology, Department of Internal Medicine, School of Medicine, Chungnam National University, 640 Daesadong Chungku Daejeon 301-721 Korea. Division of Endocrinology1, Department of Internal Medicine, Eulji University Hospital,1
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- Abstract
- Objectives : Peptidylarginine deiminase type 4 (PADI4) is an enzyme that catalyses the post-translational modification of
peptidylarginine to citrulline, a reaction known as citrullination. Citrullination by PADI4 helps rheumatoid artiritis (RA)-specific
autoantibodies recognize self-antigens. The purpose of this study is to investigate whether polymorphisms of PADI4 gene are
associated with the susceptibility to RA in Korean population. Methods : Seven hundred and four patients with RA and 298
healthy unrelated controls were included in this study. The nucleotide sequences of PADI4 gene polymorphisms, which were in
the promoter region at the -1445 A/G and in the exon 4 at the 27971 T/C, were analyzed by fluorescence resonance energy
transfer (FRET) method. Association between RA and individual polymorphism was examined by Chi-square test. Haplotypes
were reconstructed by using the Bayesian algorithm. Results : The genotype frequencies of the polymorphisms were in
Hardy-Weinberg equilibrium. The distribution of genotypes and alleles did not differ between RA patients and controls. The four
haplotypes were reconstructed based on the linkage disequilibrium at positions -1445 and 27971, but the distribution of
haplotypes did not differ between two groups. Clinical features such as onset of age, sharp score/year and presence of
rheumatoid factor and anti-cyclic citrullinated peptide antibody did not differ between both groups. The frequency of T allele
at the position 27971 C/T polymorphism was higher among the RA patients than the control group, although there was no
statistical significance (p=0.058). Conclusion : This study demonstrated that polymorphisms of the PADI4 gene may not
contribute to disease susceptibility to RA in Korean population.
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