The Association With The -159c/t Polymorphism In The Promoter Region Of The Cd14 Gene And Juvenile Idiopathic Arthritis

ObjectiveJuvenile idiopathic arthritis (JIA) is one of the most common disabled systemic and chronic autoimmune diseases with unknown etiology in childhood. We investigated the genotype frequencies,allele frequencies and the association of a C-to-T transition in the promoter region of the CD14 gene on chromosome 5q31.1 and JIA in a Chinese Han population.MethodsOne hundred sixty-three children with JIA and 281 healthy children (age-and sex-matched to JIA group) were studied from Guangzhou Children's Hospital in china from Feb 2007 to Oct 2009. Polymerase chain reaction-restriction fragment-length polymorphism (PCR-RFLP) was used for analysis of the genotypes.Direct counting of the frequencies of the genotypes and allele is applicated to all groups . All data were analyzed using SPSS version 13.0.The comparisons of genotype and allele frequencies were made using chi-squared test.A p value <0.05 was considered significant.The odd ratios (OR) with 95% confidence interval (CI) were used to estimate the risk of an association between the outcome and each variable. ResultsThe genotype frequencies of CC, CT and TT in the promoter– 159C/T of CD14 gene were 14.11%, 52.76%, 33.13% in JIA, and the genotype frequencies of CC, CT and TT in subjects of JIA were 11.48%, 49.18% and 39.34% in systemic onset JIA (So-JIA) group respectively, and were 21.62%, 43.24%, 35.14% in polyarticular JIA group respectively, 16.67%, 50%, 33.33% in oligoarticular JIA respectively, 6.9%, 75.86%, 17.24% in the remaining other type's JIA group respectively, 37.01%, 46.98%, 16.01% in normal control group respectively. Genotype frequency and allele frequency distribution were in accordance with Hardy- Weinberg equilibrium. There existed statistically significant difference in frequencies of genotype and allele in the promoter– 159C/T of CD14 gene polymorphism between JIA group and control group(Genotype :χ~2 = 32.88,P<0. 05 , CT vs CC , OR = 2.946 , 95 %CI:1.739-4.990, TT vs CC , OR = 5.426,95 %CI:2.977-9.891. Allele :χ~2 = 33.17, p<0. 05, T vs C , OR = 2.251, 95 %CI : 1.704-2.973) . The T allele frequency of male and female were significantly higher than those in the control group (p<0.001 for both).ConclusionThe promoter -159C/T of CD14 gene polymorphism had been in equilibrium in Chinese Han population. CD14-159C/T gene polymorphism is significantly correlated with JIA patients in Chinese Han population. The T allele of the -159C/T polymorphism of CD14 gene may be a genetic risk factor in JIA patients.