TY - JOUR
T1 - A new haplotype of PDCD1 is associated with rheumatoid arthritis in Hong Kong Chinese
AU - Kong, Eric Kai-Pang
AU - Prokunina-Olsson, Ludmila
AU - Wong, Wilfred Hing-Sang
AU - Lau, Chak-Sing
AU - Chan, Tak-Mao
AU - Alarcon-Riquelme, Marta
AU - Lau, Yu-Lung
N1 - dc.publisher: Wiley-Blackwell
dc.description.sponsorship: Edward Sai-Kim Hotung Pediatric Education and Research Fund
Research Postgraduate Studentship
Swedish Research Council
Clas Groschinski Memorial Fund
Swedish Rheumatism Association
Swedish Medical Association
Alliance for Lupus Research
Outstanding Researcher Award of The University of Hong Kong
PY - 2005/4
Y1 - 2005/4
N2 - Objective The programmed death 1 (PD-1) molecule is a negative regulator of T cells, and a genetic association between PD-1 and systemic lupus erythematosus and rheumatoid arthritis (RA) in Caucasians has been reported. The aim of this study was to investigate the association of PDCD1 polymorphisms and haplotypes with RA in the Chinese population. Methods Three single-nucleotide polymorphisms (SNPs), PD-1.1 G/A, PD-1.3 G/A, and PD-1.5 C/T, were genotyped in 180 patients with RA and 647 healthy controls in a case–control association study. Analyses of the association of genotypes and alleles with disease, haplotype construction, and linkage disequilibrium (LD) were performed. Results We constructed haplotypes with the alleles of markers PD-1.1 G/A and PD-1.5 C/T and found that the GT haplotype was overrepresented in patients with RA (31%) compared with controls (23%) (P = 0.001, odds ratio [OR] 1.54, 95% confidence interval [95% CI] 1.18–1.99). Among GT double homozygotes the risk of RA was increased even further (OR 2.31, 95% CI 1.31–4.08, P = 0.006). We also observed that the AA genotype of SNP PD-1.1 was associated with a decreased risk for developing RA (OR 0.38, 95% CI 0.15–0.99, P = 0.034). No association for SNP PD-1.5 in RA was found, and SNP PD-1.3 was nonpolymorphic in the Chinese population. Conclusion Our results support the involvement of PDCD1 as a susceptibility gene for RA in the Chinese population. © 2005, American College of Rheumatology
AB - Objective The programmed death 1 (PD-1) molecule is a negative regulator of T cells, and a genetic association between PD-1 and systemic lupus erythematosus and rheumatoid arthritis (RA) in Caucasians has been reported. The aim of this study was to investigate the association of PDCD1 polymorphisms and haplotypes with RA in the Chinese population. Methods Three single-nucleotide polymorphisms (SNPs), PD-1.1 G/A, PD-1.3 G/A, and PD-1.5 C/T, were genotyped in 180 patients with RA and 647 healthy controls in a case–control association study. Analyses of the association of genotypes and alleles with disease, haplotype construction, and linkage disequilibrium (LD) were performed. Results We constructed haplotypes with the alleles of markers PD-1.1 G/A and PD-1.5 C/T and found that the GT haplotype was overrepresented in patients with RA (31%) compared with controls (23%) (P = 0.001, odds ratio [OR] 1.54, 95% confidence interval [95% CI] 1.18–1.99). Among GT double homozygotes the risk of RA was increased even further (OR 2.31, 95% CI 1.31–4.08, P = 0.006). We also observed that the AA genotype of SNP PD-1.1 was associated with a decreased risk for developing RA (OR 0.38, 95% CI 0.15–0.99, P = 0.034). No association for SNP PD-1.5 in RA was found, and SNP PD-1.3 was nonpolymorphic in the Chinese population. Conclusion Our results support the involvement of PDCD1 as a susceptibility gene for RA in the Chinese population. © 2005, American College of Rheumatology
KW - Rheumatoid arthritis
KW - Programmed death 1 (PD-1) molecule
KW - PD-1
KW - Systemic lupus erythematosus
KW - Genetic predisposition to disease
KW - Haplotypes genetics
KW - Polymorphism
U2 - 10.1002/art.20966
DO - 10.1002/art.20966
M3 - Article
C2 - 15818672
SN - 0004-3591
VL - 52
SP - 1058
EP - 1062
JO - Arthritis and Rheumatism
JF - Arthritis and Rheumatism
IS - 4
ER -