川崎病患儿骨桥蛋白基因708C/T位点多态性分析

Osteopontin gene locus 708C/T polymorphism in children with Kawasaki disease

目的探讨川崎病(KD)患儿骨桥蛋白(OPN)基因708C/T位点多态性的特点,以及与冠状动脉损伤(CAL)的关联性。方法选择2006年10月至2015年3月,在中南大学湘雅三医院儿科住院治疗的103例KD患儿(KD组),及同期在医院进行体检的100例健康儿童(对照组)为研究对象。采取病例对照研究方法,应用聚合酶链反应-限制性内切酶片断长度多态性分析(PCR-RFLP)技术,对203例受试者的OPN基因708C/T位点多态性进行分析。KD组根据有无CAL分为KD合并CAL组(n=43)和KD无CAL组(n=60)。结果KD组OPN基因708C/T位点3种基因型分布频率分别为CC(9,8.74%)、CT(30,29.13%)和TT(64,62.14%),等位基因频率为C(48,23.30%)和T(158,76.70%);正常对照组OPN基因708C/T位点3种基因型分布频率分别为CC(8,8.00%)、CT(35,35.00%)和TT(57,57.00%),等位基因频率C(51,25.50%)、T(149,74.50%);两组比较,均差异无统计学意义(χ2=0.79,0.28;均P>0.05);KD合并CAL组中OPN基因708C/T位点基因型[CC(3,6.98%)、CT(15,34.88%)、TT(25,58.14%)]及等位基因频率[C(21,24.42%)、T(65,75.58%)]与KD未合并CAL组[CC(6,10.00%)、CT(14,23.33%)、TT(40,66.67%),C(26,21.67%)、T(94,78.33%)]比较,均差异无统计学意义(χ2=1.73,0.22;均P>0.05)。结论未发现OPN基因708C/T位点多态性与KD的发生及其并发CAL存在关联性。

Objective To investigate the polymorphism of locus 708C/T in Osteopontin(OPN)gene of children with Kawasaki disease(KD)and the correlation between the polymorphism and coronary artery lesion(CAL).Methods A total of 103 cases of patients with KD hospitalized in pediatrics department of the Third Xiangya Hospital of Central South University from October 2006 to March 2015 and 100 cases healthy children who underwent physical examination in the same period were selected as the study subjects.In the case-control study,polymorphism analysis of locus 708C/T in OPN gene of 203 cases were detected using PCR-RFLP method.According to the presence or absence of CAL,the KD group was divided into KD combined with CAL(n=43)and KD without CAL(n=60).ResultsIn KD group,the 3 kinds of genotype distribution frequencies of OPN gene 708C/T site were CC(8.74%),CT(29.13%),TT(62.14%),and the allelic frequencies were C(23.30%)and T(76.70%),respectively.In normal control group,the 3 kinds of genotype distribution frequencies of OPN gene 708C/T site were CC(8.00%),CT(35.00%),TT(57.00%),and the allelic frequencies were C(25.50%)and T(74.50%).There were no significant differences between the two groups(χ2=0.79,0.28,all P>0.05).The frequencies of three genotypes of OPN gene 708C/T site in KD with CAL group were CC(6.98%),CT(34.88%)and TT(58.14%),and the allelic frequencies were C(24.42%)and T(75.58%),respectively.The frequencies of OPN gene 708C/T site in KD without CAL group were CC(10.00%),CT(23.33%)and TT(66.67%),and the allelic frequencies were C(21.67%)and T(78.33%),respectively.There were no significant differences between the two groups(χ2=1.73,0.22,all P>0.05).ConclusionNo correlation is found between the polymorphism of locus 708C/T in OPN gene and the occurrence of KD and its complication CAL.