IL-17A基因rs3819025位点多态性与川崎病的相关性  

Relationship between IL-17A gene polymorphism and susceptibility to Kawasaki disease

作　　者：杨叶猗[1] 刘欣 刘锐[2] 申琳 李卓颖[2] 杨作成[2] YANG Yeyi;LIU Xin;LIU Rui;SHEN Lin;LI Zhuoying;YANG Zuocheng(Department of Nephropathy and Rheumatology,Third Xiangya Hospital,Central South University,Changsha 410013;Department of Pediatrics,Third Xiangya Hospital,Central South University,Changsha 410013,China)

机构地区：[1]中南大学湘雅三医院肾病风湿科,长沙410013 [2]中南大学湘雅三医院儿科,长沙410013

出　　处：《中南大学学报（医学版）》2023年第7期986-994,共9页Journal of Central South University ：Medical Science

基　　金：supported by the New Xiangya Talent Project of the Third Xiangya Hospital of the Central South University(20150312),China.

摘　　要：目的:川崎病是儿童中最常见的自身免疫性血管炎综合征,是一种多基因复杂性疾病。IL-17是近年来发现的前炎症细胞因子家族成员,有很强的促炎作用,能参与各种急、慢性炎症反应。本研究旨在探讨IL-17A基因rs3819025位点单核苷酸多态性与川崎病易感性的关系。方法:回顾性纳入符合诊断标准的120例川崎病患者(川崎病组)和120例健康儿童(对照组),应用聚合酶链式反应(polymerase chain reaction,PCR)和DNA直接测序法检测2组人群基因多态位点单核苷酸基因多态性。结果:IL-17A基因rs3819025位点在川崎病组中GG、GA、AA基因型频率分别为82.5%、17.5%、0,对照组中GG、GA、AA基因型频率分别为72.5%、22.5%、5.0%,2组比较差异有统计学意义(χ^(2)=7.524,P=0.023);川崎病组与对照组的G、A等位基因频率分别为91.25%、8.75%和83.75%、16.25%,2组比较差异有统计学意义(χ^(2)=6.171,P=0.013)。川崎病组中合并冠状动脉损伤患者的GG、GA基因型分布频率分别为88.46%、11.54%,G、A等位基因频率分别为94.23%、5.77%,川崎病组中无冠状动脉损伤患者的GG、GA基因型分布频率分别为78.72%、21.28%,G、A等位基因频率分别为89.36%、10.64%。川崎病组合并冠状动脉损害与无冠脉损伤的患者比较,rs3819025的GG、GA基因型和G、A等位基因频率差异均无统计学意义(均P>0.05)。有A等位基因比无A等位基因的儿童患川崎病的风险高2.023倍(χ^(2)=6.171,P=0.013;OR=2.023,95%CI 1.151~3.557)。结论:IL-17A基因rs3819025位点基因多态性与川崎病的发病存在关联性,A等位基因可能是川崎病发病的风险因素。Objective:Kawasaki disease(KD)is the most common autoimmune vasculitis syndrome in children,which supposed be a complex polygenic disorder.Interleukin-17(IL-17)is a member of the pro-inflammatory cytokine family,which has a strong pro-inflammatory effect and can participate in various acute and chronic inflammatory responses.This study aims to investigate the relationship between the single-nucleotide polymorphism(SNP)locus rs3819025 in the IL-17A gene and the susceptibility to KD.Methods:A total of 120 patients with KD who met the diagnostic criteria(the KD group)and 120 healthy children(the control group)were enrolled retrospectively in this study.Polymerase chain reaction(PCR)and DNA direct sequencing were used to detect the SNPs of children in the 2 groups.Results:The frequencies of GG,GA,and AA genotypes of rs3819025 locus in the IL-17A gene in the KD group were 82.5%,17.5%,and 0,respectively,and the frequencies of GG,GA,and AA genotypes in the control group were 72.5%,22.5%,and 5.0%,respectively.There were significant differences in both genotype(χ^(2)=7.524,P=0.023).The allele frequencies G and A of rs3819025 locus in the KD group were 91.25%and 8.75%,respectively,while those in the control group were 83.75%and 16.25%,respectively.There was significant difference between the 2 groups(χ^(2)=6.171,P=0.013).The distribution frequencies of GG or GA genotype and G or A allele were 88.46%or 11.54%and 94.23%or 5.77%in the KD group with coronary artery lesion,respectively.The distribution frequencies of GG or GA genotype and G or A allele were 78.72%or 21.28%and 89.36%or 10.64%in the KD group without coronary artery lesion,respectively.There were no significant differences in genotype and allele frequencies of rs3819025 between the KD with coronary artery lesion group and the KD group without coronary artery lesion(both P>0.05).Besides,children with the allele A had a 2.023 times higher risk of KD than those without the allele A(χ^(2)=6.171,P=0.013;OR=2.023,95%CI 1.151 to 3.557).Conclusions:The locus rs3819025

关 键 词：川崎病 IL-17A基因 基因多态性 

分 类 号：R725.4[医药卫生—儿科]