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Association of polymorphisms in the programmed cell death 1 (PD-1) and PD-1 ligand genes with ankylosing spondylitis in a Chinese population.

Authors: Qingrui, Yang; Yi, Liu; Dongxia, Liu; Yuanchao, Zhang; Kun, Mu;

Association of polymorphisms in the programmed cell death 1 (PD-1) and PD-1 ligand genes with ankylosing spondylitis in a Chinese population.

Abstract

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.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.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).The results support a major role for PD-1/PD-L1 polymorphisms in disease susceptibility of AS.

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Keywords

Male, China, Genotype, Programmed Cell Death 1 Receptor, Polymorphism, Single Nucleotide, B7-H1 Antigen, Asian People, Gene Frequency, Antigens, CD, Humans, Female, Genetic Predisposition to Disease, Spondylitis, Ankylosing, Apoptosis Regulatory Proteins

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Powered by OpenAIRE graph
citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
23
Top 10%
Top 10%
Top 10%