儿童哮喘易感基因及表观遗传学研究现状  

Current research status of susceptibility genes and epigenetics on childhood asthma

作　　者：娄丽丽 刘瀚旻 Lili Lou;Hanmin Liu(Department of Pediatrics,Key Laboratory of Birth Defects and Related Diseases of Women and Children(Sichuan University),Ministry of Education,Vascular Remodeling and Developmental Defects Research Unit of West China Institute of Women and Children′s Health,West China Second University Hospital,Sichuan University,Chengdu 610041,Sichuan Province,China)

机构地区：[1]四川大学华西第二医院儿科、出生缺陷与相关妇儿疾病教育部重点实验室、西部妇幼医学研究院血管重构与发育缺陷研究室,成都610041

出　　处：《中华妇幼临床医学杂志（电子版）》2023年第3期249-255,共7页Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition)

基　　金：国家卫生健康委员会中央高校基本科研业务费专项资金(SCU2022D022)。

摘　　要：哮喘(asthma)是儿童中最常见的慢性呼吸系统疾病,以反复发作的咳嗽、气促、喘息等为特征,严重影响儿童的健康、日常生活及学习,给患儿家庭及社会带来沉重的疾病和经济负担。儿童哮喘是环境-免疫-遗传交互的多基因复杂性疾病,发病机制迄今尚未阐明,随着全基因组关联研究(GWAS)等检测手段的进步,实现了遗传学领域大进展,在哮喘易感基因、表观遗传学等方面更好地阐述发病机制,为儿童哮喘基因诊断、靶向治疗等提供一定指导意义。笔者拟就全球儿童哮喘发病率概述、哮喘患儿的分子表型、易感基因、相关表观遗传学修饰的最新研究进展进行阐述。Asthma is the most common chronic respiratory diseases in children,characterized by repeated cough,shortness of breath,wheezing,etc.,which seriously affects children′s health,daily life and learning,and brings heavy disease and economic burden to families and society.With the advancement of genome-wide association studies(GWAS),great progresses have been made at the genetic level,and its pathogenesis has been better elaborated in asthma susceptibility genes and epigenetics,providing guidance for gene diagnosis and targeted therapy.The author intends to elaborate on the global incidence of childhood asthma,the latest research status of molecular phenotypes,susceptibility genes,and epigenetic modifications in children with asthma.

关 键 词：哮喘 基因检测 疾病遗传易感性 表观基因组学 全基因组关联研究 分子靶向治疗 免疫表型分型 儿童健康 

分 类 号：R725.6[医药卫生—儿科]