The association with the -159C/T polymorphism in the promoter region of the CD14 gene and juvenile idiopathic arthritis in a Chinese Han population.
OBJECTIVE
Juvenile idiopathic arthritis (JIA) is generally considered to be caused by interaction of genetic and environmental factors. We investigated 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.


METHODS
One hundred sixty-three children with JIA and 281 healthy children (age- and sex-matched to JIA group) were studied. Polymerase chain reaction-restriction fragment-length polymorphism (PCR-RFLP) was used for analysis of the genotypes. (Trial registration number ChiCTR-CCC-00000312.)


RESULTS
CD14 promoter-159 genotype frequencies of CC, CT, and TT were 11.48%, 49.18%, and 39.34%, respectively, in the systemic onset JIA group; 21.62%, 43.24%, and 35.14%, in the polyarticular JIA group; 16.67%, 50%, and 33.33%, in the oligoarticular JIA group; 6.9%, 75.86%, and 17.24%, in the group with other types of JIA; and 37.01%, 46.98%, and 16.01%, in the control group. Genotype frequency and allele frequency distribution were in accord with Hardy-Weinberg equilibrium. There were statistically significant differences in frequencies of genotype and allele in CD14 C-159T polymorphism between JIA group and control group (genotype: chi-squared = 33.168, 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: chi-squared = 33.168, p < 0.05, T vs C, OR 2.251, 95% CI 1.704-2.973). The T allele frequencies of boys and girls were significantly higher than those in the control group (p < 0.001 of both).


CONCLUSIONS
CD14 gene promoter C-159T polymorphism is significantly correlated with JIA in the Chinese Han population. The T allele of the C-159T polymorphism of CD14 gene may be a genetic risk factor for JIA.
Zeng
Hua Song
HS
Pediatric Department, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Chen
Xiang Yuan
XY
Luo
Xiao Ping
XP
D001171:Arthritis, Juvenile / Q000208:ethnology* / Q000235:genetics*; D044466:Asian People / Q000208:ethnology / Q000235:genetics; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D002681:China; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006801:Humans; D018950:Lipopolysaccharide Receptors / Q000235:genetics*; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics*; D012307:Risk Factors
D018950:Lipopolysaccharide Receptors