Association of polymorphisms in the programmed cell death 1 (PD-1) and PD-1 ligand genes with ankylosing spondylitis in a Chinese population.
OBJECTIVE
To investigate the association of the polymorphisms and haplotypes in the PD-1 and PD-1 ligand genes with ankylosing spondylitis (AS) in a Chinese population.


METHODS
A total of 196 Chinese patients with ankylosing spondylitis and 180 age- and sex-matched controls of the same ethnic origin were included in the study. The polymorphisms in PD-1 and PD-1 ligand genes were genotyped using polymerase chain reaction-restriction fragment length polymorphism, allele-specific PCR and fluorescence melting curve methods.


RESULTS
The T allele of the PD-1 rs2227982 polymorphism was more frequent in the patient group than in the controls (28.53% vs. 17.22%; p=0.000). The frequency of the CT haplotype (PD-1 rs2227981 C allele and PD-1 rs2227982 T allele) was higher in the AS patient group comparing with the controls (odds ratio (OR)=1.845, 95% confidence interval 1.220-2.789). The C allele of the PD-L1 rs822336 polymorphism was also more frequent in the patients than in the controls (34.69% vs. 27.22%; p=0.007). However, we did not find any evidence of genetic association between PD-L2 rs1009759/rs6476985 polymorphisms and AS (p=0.371 and 0.061, respectively). No significant difference in the distribution of the PD-1 rs2227981 alleles was found in our population when comparing AS patients with control groups (p=0.226).


CONCLUSIONS
The results support a major role for PD-1/PD-L1 polymorphisms in disease susceptibility of AS.
Department of Rheumatology and Immunology, Shandong University, China.
Qingrui
Q
Yang
Yi
Y
Liu
Dongxia
D
Liu
Yuanchao
Y
Zhang
Kun
K
Mu
D015703:Antigens, CD / Q000235:genetics*; D051017:Apoptosis Regulatory Proteins / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D060890:B7-H1 Antigen; D002681:China / Q000453:epidemiology; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide; D061026:Programmed Cell Death 1 Receptor; D013167:Spondylitis, Ankylosing / Q000208:ethnology / Q000235:genetics*
D015703:Antigens, CD; D051017:Apoptosis Regulatory Proteins; D060890:B7-H1 Antigen; C423236:CD274 protein, human; C105992:PDCD1 protein, human; D061026:Programmed Cell Death 1 Receptor