IL-1β及IL-1Ra基因VNTR多态性与儿童热性惊厥的相关性研究  

Relationship of Interleukin-1β and Interleukin-1 Receptor Antagonist Gene Polymorphisms with Febrile Seizures

作　　者：汪皓[1] 陈秋梅[2] 熊礼宽[2] 

机构地区：[1]南方医科大学附属深圳市妇幼保健院医务科,广东省深圳市518028 [2]广东省深圳市宝安区妇幼保健院医教科,518133

出　　处：《中华全科医学》2013年第8期1209-1210,1297,共3页Chinese Journal of General Practice

基　　金：2011年广东省深圳市科技计划项目(201103202)

摘　　要：目的探讨IL-1β基因外显子5多态位点Taq I及IL-1Ra基因可变串联重复序列(VNTR)多态性与儿童热性惊厥的相关性。方法应用聚合酶链反应法和限制性片段长度多态性方法,观察60例热性惊厥患儿、60例年龄和性别相匹配的同期体检健康儿童(对照组)的IL-1β基因外显子5多态位点Taq I及IL-1Ra基因VNTR多态性的分布情况。结果 IL-1β基因外显子5多态位点Taq I三种基因型(C/T、C/C、T/T)及等位基因C、T分布频率在FS组和对照组中比较差异无统计学意义(P﹥0.05)。IL-1Ra VNTR基因型(A1/A1、A1/A2、A1/A3)及等位基因A1、A2、A3在FS组和对照组中有统计学意义(P<0.05)。采用logistic回归分析,对照组中A2型等位基因和A1/A2基因的分布频率与FS组相比明显增加(P<0.05)。结论 IL-1Ra A2等位基因在热性惊厥的发生发展过程中可能具有潜在的保护作用。Objective To investigate the association between IL-1βgene polymorphic site Taq I with exon 5 and IL-1Ra gene VNTR polymorphism with febrile seizures.Methods The polymorphic site of IL-1β gene with exon 5 and VNTR polymorphism of IL-1Ra gene were examined in 60 febrile seizures and control group of 60 health children was matched with regard to age and sex.Results Genotypes for IL-1β gene with exon 5（C / T,C / C,T / T） were not significantly different in total febrile seizures and healthy controls（P ﹥ 0.05）.No significant difference was found on frequency of allele C,T in two groups（P〈0.05）.Significant differences of genotypes（A1 / A1,A1 / A2,A1 / A3） and allele frequencies（A1,A2,A3） were observed in FS and controls（P〈0.05）.We used logistic regression analyses,and found that the frequency of the type A2 alleles and the A1 / A2 genotype distribution in the control group were significantly increased compared within the FS group（P〈0.05）.Conclusion IL-1Ra A2 allele may have the potentially protective effect on developing febrile seizures.

关 键 词：热性惊厥 白细胞介素1Β 白细胞介素1 受体拮抗剂 基因多态性 

分 类 号：R729[医药卫生—儿科] R394.113[医药卫生—临床医学]