| Objective:To investigate whether single nucleotide polymorphisms(SNPs) within the genes PRF1 and GZMB,which are known to contribute to the risk of hemophagocytic lymphohistiocytosis(HLH),confer an increased risk of susceptibility to juvenile idiopathic arthritis(JIA).Method.One hundred and one patients with JIA and One hundred healthy individuals were enrolled.The exon 2,exon 3 of PRF1 and exon 2,3,and 5 of GZMB were directly sequenced to identify and characterize the single nucleotide polymorphisms.The genotypic and allelic frequencies of SNPs were analyzed with case-control study.Results:Two SNPs in exon 3 of PRF1 as well as one SNP in exon 2,two SNPs in exon 3,two SNPs in exon 5 of GZMB were identified,but no SNPs were detected in exon 2 of PRF 1.No significant differences were detected between the SNPs genotypic and allelic frequencies of JIA patients and controls(P＞0.05).Furthermore,no significant associations were observed for any of the SNPs haplotype.There were statistically significant differences in genotypic frequencies in JIA subtypes in 3151T＞C and 3186A＞G(P＜0.05) of GZMB.Conclusion.No SNPs of PRF1 or GZMB associated with the susceptibility of JIA.Genetic varibilities of PRF1 and GZMB,which confer higher risk of HLH in children,are less likely involved in pathogenesis of juvenile idiopathic arthritis. |
