title: Association of the programmed cell death 1 (PDCD1) gene polymorphism with ankylosing spondylitis in the Korean population.
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.
authors.affiliation: Department of Rheumatology, College of Medicine, Kyunghee University, 1 Hoegi-dong, Dongdaemun-gu, Seoul, 130-701, South Korea. boltaguni@yahoo.co.kr
authors.forename: Sang-Hoon
authors.initials: SH
authors.lastname: Lee
authors.forename: Yeon-Ah
authors.initials: YA
authors.lastname: Lee
authors.forename: Doo-Hyun
authors.initials: DH
authors.lastname: Woo
authors.forename: Ran
authors.initials: R
authors.lastname: Song
authors.forename: Eun-Kyung
authors.initials: EK
authors.lastname: Park
authors.forename: Mi-Hyun
authors.initials: MH
authors.lastname: Ryu
authors.forename: Young-Hoon
authors.initials: YH
authors.lastname: Kim
authors.forename: Kyoung-Soo
authors.initials: KS
authors.lastname: Kim
authors.forename: Seung-Jae
authors.initials: SJ
authors.lastname: Hong
authors.forename: Myung Chul
authors.initials: MC
authors.lastname: Yoo
authors.forename: Hyung-In
authors.initials: HI
authors.lastname: Yang
mesh_terms: D000328:Adult; D000368:Aged; D015703:Antigens, CD / Q000235:genetics*; D051017:Apoptosis Regulatory Proteins / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007723:Korea / Q000453:epidemiology; D008297:Male; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D061026:Programmed Cell Death 1 Receptor; D013167:Spondylitis, Ankylosing / Q000235:genetics*
chemical_list: D015703:Antigens, CD; D051017:Apoptosis Regulatory Proteins; C105992:PDCD1 protein, human; D061026:Programmed Cell Death 1 Receptor