摘要
目的研究广东地区汉族幼年特发性关节炎(JIA)患儿CD14基因启动子-159位点基因多态性和等位基因频率的分布情况,探讨其多态性与JIA的关系。方法对104例JIA病例和281名健康体检儿童,采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)法进行基因型分析。结果JIA全身型CD14(-159)多态性CC、CT和TT基因型频率分别为10.87%、41.30%、47.83%;JIA多关节型分别为12.50%、50.00%、37.50%;JIA少关节型分别为10.00%、65.00%、25.00%;JIA其他类型分别为7.14%、71.43%、21.43%;对照组分别为37.01%、46.98%、16.01%,其中JIA全身型及多关节型组的基因型频率、等位基因频率与对照组比较差异有统计学意义(P均<0.05),JIA少关节型的等位基因频率与对照组比较差异有统计学意义(P<0.05)。结论CD14基因启动子C-159T多态性与广东地区汉族JIA全身型及多关节型患儿有明显相关性;CD14启动子C-159T基因多态性中的T等位基因可能是JIA的遗传学风险因素。
Objectives To investigate the distribution of CD14 promoter gene-C-159T polymorphism in Guangdong HaM population of China and analyze the association of CD14 polymorphisms with juvenile idiopathic arthritis （JIA）. Methods Genotypes of CD14 were determined in 104 JIA patients and 281 controls by polymerase chain reactionrestriction fragment length polymorphism. Results CD14 promoter-159 genotype frequencies of CC, CT and TT in systemic JIA group were 10.87%, 41.30%, 47.83%; and 12.50%, 50.00%, 37.50% in polyarticular JIA group; and 10.00%, 65.00%, 25.00% in oligoarticular JIA; and 7.14%, 71.43%, 21.43% in other JIA; and in normal control group were 37.01%, 46.98%, 16.01%. Genotype distribution was in accordance with Hardy-Weinberg equilibrium. There existed statistically significant difference in frequencies of genotype and allele in CD14 C-159T polymorphism between systemic JIA group and control group, Polyarticular JIA group and control group. There also existed statistically difference in frequencies of allele between oligoarticular JIA group and control group. The T allele frequency of male and female were significantly higher than those in the control group （P 〈 0.001 of both）. Conclusions There existed statistically significant correlation of CD14 gene promoter region-159 polymorphism with systemic JIA and polyarticular JIA among HaM population in Guangdong; The T allele of the C-159T polymorphism of CD14 gene may be a risk factor for juvenile idiopathic arthritis in Han population.
出处
《临床儿科杂志》
CAS
CSCD
北大核心
2009年第2期123-126,133,共5页
Journal of Clinical Pediatrics
基金
国家人事部留学归国人员启动基金(No.200499)
广东省科技厅科技攻关重点项目(No.2003B30503)
广州市科技局科技攻关重大项目(No.2003Z2-E0181)
广州市科技局科技攻关一般引导项目(No.2005Z1-E0104)
广州市卫生局重点项目(No.2005-Zdi-08)
