| BackgroundPrevious studies have shown that aberrant T lymphocyte apoptosis is involved in the pathogenesis of uveitis.Genetic variants of apoptotic pathway-related factors including[(programmed cell death 1)PDCD1,(programmed cell death 1 ligand 2)PDCD1LG2,(Fas cell surface death receptor)FAS and(Fas ligand)FASLG)]may affect apoptosis and in turn predict susceptibility to autoimmune disease.This has not yet been studied in pediatric idiopathic uveitis(PIU)and juvenile idiopathic arthritis(JIA)-associated uveitis and was therefore the subject of the study presented here.MethodsFourteen single-nucleotide polymorphisms(SNPs)of several apoptosis-related pathway genes were analyzed in 1238 PIU patients,128 JIA-associated uveitis patients and 1114 healthy controls using the iPLEX Gold Assay and MassARRAY platform.Data were analyzed by Chi-square test.One hundred and twenty-eight JIA-associated uveitis patients served as another set of controls to investigate whether there was a similar genetic background between PIU and JIA-associated uveitis.ResultsAfter correction by Bonferroni,our results showed a lower frequency of the PDCD1/rs6710479 CC genotype in PIU patients as compared to controls(P=7.13×10-4,Pc=3.42×10-3,OR=0.466,95%CI=0.318-0.685).A higher frequency of the A allele(P=1.01×10-4,Pc=4.85×10-3,OR=1.350,95%CI=1.160-1.571)was observed in PIU patients as compared with controls.Stratification analysis showed a positive association of band keratopathy with the PDCD1/rs7565639 CT genotype(P=2.18×10-4,Pc=1.05×10-2,OR=1.879,95%CI=1.340-2.635),and a negative association of this parameter with the PDCD1/rs7565639 C allele(P=7.83×10-4,Pc=3.76×10-2,OR=0.577,95%CI=0.418-0.798).No association could be detected between the tested SNPs and JIA-associated uveitis.ConclusionsThis study revealed that rs6710479 and rs7421861 in the PDCD1 gene confer susceptibility to PIU in Han Chinese.A stratified analysis showed that PDCD1/rs7565639 is associated with band keratopathy in PIU patients. |
