Korean J Med.  2007 Apr;72(4):393-399.

The association of programmed cell death 1 (PDCD1) gene polymorphism with ankylosing spondylitis in a Korean population

Affiliations
  • 1Department of Internal Medicine, Kyung Hee University College of Medicine, Seoul, Korea. boltaguni@yahoo.co.kr
  • 2East-West Bone & Joint Research Center, Kyunghee University Medical Center, Seoul, Korea.
  • 3Department of Internal Medicine, College of Medicine, Pochon CHA University, Pochon, Korea.
  • 4Department of Orthopedic Surgery, Kyung Hee University College of Medicine, Seoul, Korea.

Abstract

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).
CONCLUSIONS
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.

Keyword

PDCD1 protein; Ankylosing spondylitis; Single nucleotide polymorphism

MeSH Terms

Alleles
Arthritis, Rheumatoid
Case-Control Studies
Cell Death*
DNA
Humans
Lupus Erythematosus, Systemic
Male
Polymorphism, Single Nucleotide
Spondylitis, Ankylosing*
T-Lymphocytes
DNA
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