Study on the single nucleotide polymorphisms of peptidylarginine deiminase 4 in patients with rheumatoid arthritis in Chinese Han population in Hebei province / 中华风湿病学杂志

ABSTRACT

Objective To elucidate the association of the susceptibility for rheumatoid arthritis ( RA )and peptidylarginine deiminase 4(PADI4) genetic single nucleotide polymorphism (SNP) in Han population in Hebei province.Methods This hospital-based ease-control study included 105 untreated RA patients and 96 healthy controls.The genotypes and allele frequencies of padi4_92 gene polymorphisms were analyzed by PCR-RFLP method,and the analysis of linkage disequilibrium and haplotype construction were performed for padi4_92,padi4_94 and padi4_104 SNPs.The Peason Chi-square test and Woolf statistic method were used to analyze the odds ration (OR) and 95％ confidence interval (95％CI).Results Significant differences in the frequency of PADI4 alleles and genotypes between the cases and controls were observed.The combined effect of padi4_92,padi4_94 and padi4_104 SNPs was analyzed by SHEsis snd Genehunter software,and got three haplotypes,CCC,GTT and GCC.There was significant difference in haplotypes distribution of 3 SNPs of padi4 between the two groups.This analysis of haplotypes revealed that haplotype of PADI4 was a risk factor for RA The ORs for these three haplotypes for RA susceptibility were 0.634 (95％CI=0.425-0.946),1.306 (95％CI=0.864-1.975),4.286 (95％CI=1.274-14.424),respectively.Conclnsion The SNPs of PADI4 may contribute to genetic susceptibility to RA in Han population in Hebei Province.