Polymorphisms in endothelial protein C receptor gene and Kawasaki disease susceptibility in a Chinese children
10.11817/j.issn.1672-7347.2019.190195
- VernacularTitle: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
- Author:
Zhuoying LI
1
;
Jie JIANG
;
Lihua HUANG
;
Hongmei DAI
;
Jia CHEN
;
Qian CAI
;
Zuocheng YANG
Author Information
1. 中南大学湘雅三医院儿科
- Keywords:
Kawasaki disease;
single-nucleotide polymorphism;
endothelial protein C receptor;
coronary artery lesions
- From:
Journal of Central South University(Medical Sciences)
2019;44(9):957-967
- CountryChina
- Language:Chinese
-
Abstract:
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.