血管内皮素1基因多态性与儿童血管迷走性晕厥相关性研究  

Correlation between the vascular endothelin-1 gene polymorphism and vasovagal syncope in children

作　　者：陈婷婷 黄玉娟[1] 张国琴[1] 王健怡[2] 颜景斌[3] 徐萌[2] 黄敏[2] CHEN Tingting;HUANG Yujuan;ZHANG Guoqin;WANG Jianyi;YAN Jingbin;XU Meng;HUANG Min(Emergency Department,Children's Hospital Affiliated to Shanghai Jiao Tong University,Shanghai 200062,China;Cardiology Department,Children's Hospital Affiliated to Shanghai Jiao Tong University,Shanghai 200062,China;Genetic Department,Children's Hospital Affiliated to Shanghai Jiao Tong University,Shanghai 200062,China)

机构地区：[1]上海市儿童医院上海交通大学附属儿童医院急诊科,上海200062 [2]上海市儿童医院上海交通大学附属儿童医院心内科,上海200062 [3]上海市儿童医院上海交通大学附属儿童医院遗传所,上海200062

出　　处：《临床儿科杂志》2018年第12期927-931,共5页Journal of Clinical Pediatrics

摘　　要：目的探讨血管内皮素1(ET-1)+138A/-基因多态性与儿童血管迷走性晕厥(VVS)的相关性。方法收集不明原因晕厥患儿,行基础直立倾斜试验(HUT)。取80例HUT阳性且符合VVS诊断者作为VVS组,并分为混合型、心脏抑制型、血管抑制型3个临床亚组;80例HUT阴性者为HUT阴性组;另选80例健康儿童为正常对照组。收集VVS组、HUT阴性组儿童临床特征,并抽取3组受试者静脉血,应用高分辨率熔解曲线和聚合酶链反应结合的测序方法进行ET-1+138 A/-基因多态性检测,分析各基因型及其等位基因频率在各组间及VVS各临床分型组间的分布。结果与HUT阴性组比较,VVS组女孩比例较高,差异有统计学意义(P<0.05)。正常对照组、HUT阴性组以及VVS组之间+138A/-基因型(3A3A、3A4A、4A4A)分布以及等位基因(3A、4A)频率差异均无统计学意义(P>0.05)。VVS各临床亚组(混合型、心脏抑制型、血管抑制型)之间+138A/-基因型分布以及等位基因频率差异均有统计学意义(P<0.05),血管抑制型的3A4A基因型和4A等位基因频率较高。结论未发现ET-1+138A/-基因多态性与儿童VVS发病相关性,但3A4A基因型及4A等位基因在血管抑制型组中频率偏高,推测该基因位点参与VVS发作时的血压调节。Objective To explore the relationship between endothelin-1(ET-1)+138A/-gene polymorphism and vasovagal syncope(VVS)in children.Method The head-up tilt test(HUT)was performed in children with unexplained syncope.Eighty HUT-positive and VVS-diagnosed patients were assigned to the VVS group,and were further divided into three clinical subgroups:mixed-response type,cardioinhibitory-response type and vasodepressor-response type.Eighty HUT negative patients were assigned to the HUT-negative group.Another 80 healthy children were selected as normal control group.The clinical characteristics of children in VVS group and HUT-negative group were collected and venous blood samples were taken from all participants in three groups.ET-1+138A/-gene polymorphism was detected by high-resolution melting curve and polymerase chain reaction sequencing.The genotype and allele frequency were analyzed and compared between different groups and VVS subgroups.Results Compared with HUT negative group,the proportion of girls in VVS group was higher,and there was statistical difference(P<0.05).There was no difference in the distribution of+138A/-genotypes(3A3A,3A4A,4A4A)and allele(3A,4A)frequencies among normal control group,HUT negative group and VVS group(P>0.05).There were statistically differences in the distribution of+138A/-genotypes and allele frequencies among the clinical subgroups of VVS(mixed-response type,cardioinhibitory-response type and vasodepressor-response type)(P<0.05).The frequencies of 3A4A genotypes and 4A alleles in vasodepressor-response type subgroup were higher than those in other clinical subgroups(P<0.05).Conclusion ET-1+138A/-gene polymorphism was not found to be associated with VVS in children,but the frequencies of 3A4A genotype and 4A allele were higher in vasodepressor-response type,suggesting that this gene locus may be involved in the regulation of blood pressure during VVS attack.

关 键 词：血管迷走性晕厥 血管内皮素1 +138A/-位点 基因多态性 直立倾斜试验 

分 类 号：R725.4[医药卫生—儿科]