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KMID : 0882420070720040393
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Korean Journal of Medicine
2007 Volume.72 No. 4 p.393 ~ p.399
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The association of programmed cell death 1 (PDCD1) gene polymorphism with ankylosing spondylitis in a Korean population.
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Lee Snag-Hoon
Lee Yeon-Ah
Woo Doo-Hyun
Song Ran
Kim Young-Hoon
Park Eun-Kyung
Yoo Mi-Hyun
Kim Kyoung-Soo
Hong Seung-Jae
Yoo Myung-Chul
Yang Hyung-In
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Abstract
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Background: The programmed death 1 (PD-1) protein, the product of the PDCD1 gene, is a negative regulator of T cells, and a genetic association of PDCD1 in systemic lupus erythematosus and rheumatoid arthritis (RA) in Caucasians has been reported. However, there have been no studies on the association of this gene and ankylosing spondylitis (AS). The aim of this study was to investigate the association of PD-1 polymorphisms with ankylosing spondylitis in the Korean population
Methods: One single-nucleotide polymorphism PD-1.9 T/C were genotyped in 95 patients with AS and 130 healthy controls in a case-control association study. We analyzed this SNP by use of a PCR-RFLP assay using genomic DNA.
Results: The T allele of the PD-1.9 polymorphism was significantly more frequent in a Korean male population with AS than in Korean male controls (21.0% versus 6.9%; odds ratio[OR] 1.89; 95% confidence interval [95% CI] 1.483-2.408).
Conclusion: We demonstrated the presence of the PD-1 polymorphism in Korean AS patients. This finding suggests a genetic association between the PD-1 polymorphism and AS susceptibility.
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KEYWORD
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PDCD1 protein, Ankylosing spondylitis, Single nucleotide polymorphism
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