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Open Access Research article

Association of the programmed cell death 1 (PDCD1) gene polymorphism with ankylosing spondylitis in the Korean population

Sang-Hoon Lee1, Yeon-Ah Lee1, Doo-Hyun Woo1, Ran Song1, Eun-Kyung Park2, Mi-Hyun Ryu2, Young-Hoon Kim2, Kyoung-Soo Kim2, Seung-Jae Hong1, Myung Chul Yoo3 and Hyung-In Yang1*

Author Affiliations

1 Department of Rheumatology, College of Medicine, Kyunghee University, 1 Hoegi-dong, Dongdaemun-gu, Seoul, 130-701, South Korea

2 East-West Bone and Joint Research Center, Kyunghee University East-West Neo Medical Center, 149 Sangil-dong, Gangdong-gu, Seoul, 134-090, South Korea

3 Department of Orthopedic Surgery, College of Medicine, Kyunghee University, 1 Hoegi-dong, Dongdaemun-gu, Seoul, 130-701, South Korea

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Arthritis Research & Therapy 2006, 8:R163  doi:10.1186/ar2071

Published: 25 October 2006

Abstract

The PD-1 (programmed death 1) molecule is a negative regulator of T cells. PDCD1 (programmed cell death 1) has been reported to have a genetic association in systemic lupus erythematosus and rheumatoid arthritis in Caucasians. However, there are no reports on the association between this gene and ankylosing spondylitis (AS). The present study investigated the association of the PD-1 polymorphisms and the haplotypes with AS in a Korean population sample. In a case-control association study, two single-nucleotide polymorphisms, PD-1.5 C/T and PD-1.9 T/C, were genotyped in 95 AS patients and 130 healthy controls. The T allele of the PD-1.9 polymorphism was more frequent in the Korean male population with AS than in the Korean male controls (21.0% versus 6.9%, odds ratio 1.89, 95% confidence interval 1.483 to 2.408). The frequency of the CT haplotype (PD-1.5 C/T and PD-1.9 T/C) was higher in the AS patients (19%) than the controls (5.4%) (odds ratio 1.83, 95% confidence interval 1.559 to 2.521). The PD-1 polymorphism was demonstrated in Korean AS patients. The results suggest a genetic association between the PD-1 polymorphism and susceptibility to AS.