人白介素18基因启动子多态性与儿童1型糖尿病的相关性研究  

Association of IL-18 gene promoter polymorphisms with type 1 diabetes mellitus in children

作　　者：董关萍[1] 梁黎[1] 余钟声[1] 邹朝春[1] 周笑君[1] 

机构地区：[1]浙江大学医学院附属儿童医院内分泌科,浙江杭州310003

出　　处：《临床儿科杂志》2007年第12期974-977,987,共5页Journal of Clinical Pediatrics

基　　金：浙江省科技厅资助项目(No.2005C33027);浙江省卫生厅资助项目(No.2005A062)

摘　　要：目的研究IL-18基因单核苷酸多态性与儿童1型糖尿病(T1DM)的关系。方法应用聚合酶链反应-序列特异性引物(PCR-SSP)和测序的方法,检测118例1型糖尿病患儿和150例正常儿童IL-18基因-137位点C/G和-607位点C/A单核苷酸的多态性。结果①IL-18基因-607位点C/A的-607A等位基因在T1DM和对照组中的发生率分别为41%和53%,差异有统计学意义(P=0.01),两组间-137位点C/G的等位基因差异无统计学意义(P=0.37);②IL-18基因-137位点的CC、CG和GG基因型在T1DM和对照组中差异均无统计学意义(P>0.05);-607位点的CC基因型T1DM组显著高于正常对照组(P=0.03),AA基因型T1DM组显著低于正常对照组(P=0.03);IL-18基因-607位点的CC基因型的新发糖尿病患儿更易发生酮症酸中毒。③IL-18基因的-137G/-607C单体基因型在T1DM和正常对照组间的分布频率差异有统计学意义(P=0.03)。结论IL-18基因-607位点的CC基因型和-137G/-607C单体基因型可能与儿童1型糖尿病的发病有关,而-607位点的AA基因型可能是T1DM的保护性基因型。-607位点的CC基因型与儿童1型糖尿病患者临床表型存在显著的相关性。[临床儿科杂志,2007,25(12):974-977]Objectives To study the relationship of IL-18 gene polymorphism and predisposition to type 1 diabetes mellitus（T1DM）in children. Methods The promoter region of the IL-18 gene（137C/G and 607C/A）was studied in 118 T1DM patients and 150 normal controls by using sequence-specific primers PCR （PCR-SSP）and sequencing. Results （1）The allele frequency of -607A was 41% and 53% in patients and control respectively（P = 0.01 ） ,but the allele frequency of-137C/G was not statistically different in these two groups（P = 0.37）. （2）The distribution of CC genotype at locus -607 was significantly different between patients and controls（P = 0.03）,while the distribution of AA genotype in patients was significantly lower than that in the eontrols（P = 0.03）. Patients carrying the CC genotype at position -607 had the predisposition to ketoaeidosis at the onset of diabetes. （3）Furthermore,there was a significant increase in haplotype （-137G/-607C） in patients comparing to the controls（P = 0.03）. Conclusions The CC genotype at locus- 607 and the haplotype（-137G/-607C）of the IL-18 gene polyorphism might be associated with the T1DM susceptibility in children. AA genotype at locus -607 of the IL-18 gene promoter might be a protective genotype of T1DM. The CC geno- type at locus -607 is significantly related to the phenotype of T1DM in children.

关 键 词：IL-18基因 单核苷酸多态性 1型糖尿病 儿童 

分 类 号：R725.8[医药卫生—儿科]