中国儿童内皮细胞蛋白C受体基因多态性与川崎病易感性的关系（英文）  

Polymorphisms in endothelial protein C receptor gene and Kawasaki disease susceptibility in a Chinese children

作　　者：李卓颖[1] 江杰[1] 黄利华[2] 戴红梅[1] 陈佳[1] 蔡骞[1] 杨作成[1] LI Zhuoying;JIANG Jie;HUANG Lihua;DAI Hongmei;CHEN Jia;CAI Qian;YANG Zuocheng(Department of Pediatrics,Third Xiangya Hospital,Central South University,Changsha 410013,China;Center for Medical Experiments,Third Xiangya Hospital,Central South University,Changsha 410013,China)

机构地区：[1]中南大学湘雅三医院儿科,长沙410013 [2]中南大学湘雅三医院医学实验中心,长沙410013

出　　处：《中南大学学报（医学版）》2019年第9期957-967,共11页Journal of Central South University ：Medical Science

基　　金：supported by the Natural Science Foundation of Hunan Province,China(12JJ3108)

摘　　要：目的:调查中国儿童人群内皮细胞蛋白C受体(endothelial protein C receptor,EPCR)基因的单核苷酸多态性是否与川崎病(Kawasaki disease,KD)相关。方法:招募103名KD患者(其中23名患者出现冠状动脉病变)和158名对照组。选择EPCR基因的7个标记单核苷酸多态性(rs6088738,rs2069940,rs2069945,rs2069952,rs867186,rs9574和rs1415774)进行TaqMan等位基因鉴别分析。采用酶联免疫吸附试验(ELISA)检测53名KD和52名健康儿童血浆可溶性EPCR(soluble EPCR,sEPCR)水平。结果:rs2069952,rs9574,rs1415774与KD的发生显著相关,但与冠状动脉病变的发生无关。具有rs2069952,rs9574,rs1415774和rs2069945单核苷酸多态性的男性比女性具有更大的KD风险。KD患儿血浆sEPCR水平不能预测冠状动脉病变的形成,而KD患者rs867186等位基因G与血浆sEPCR水平升高有关。结论:中国汉族儿童EPCR的单核苷酸多态性与KD易感性有关。Objective:To investigate association between the single nucleotide polymorphisms of endothelial protein C receptor (EPCR) gene and the risk of Kawasaki disease (KD) in a Chinese children. Methods:A total of 103 KD patients including 23 patients with coronary artery lesions (CAL) and 158 controls were recruited.Seven tagging SNPs (rs6088738,rs2069940,rs2069945,rs2069952, rs867186,rs9574,and rs1415774) of EPCR gene were selected for TaqMan allelic discrimination assay.The plasma soluble EPCR (sEPCR) levels of 53 KD and 52 healthy children were detected by ELISA. Results:We found a significant association between rs2069952,rs9574 or rs1415774 and higher probability for the occurrence of KD but not CAL formation.Interestingly,males with these 3 SNPs and rs2069945 SNPs bore a much greater risk of KD than females.The level of plasma sEPCR in children with KD didnot predict the formation of CAL.However,the allele G of rs867186 in EPCR was associated with the increased level of plasma sEPCR in KD patients. Conclusion:The SNPs of EPCR are associated with KD susceptibility in a Chinese Han children.

关 键 词：川崎病 单核苷酸多态性 内皮细胞蛋白C受体 冠状动脉病变 

分 类 号：R725.4[医药卫生—儿科]