后全基因组关联研究时代非综合征型唇腭裂遗传学及易感基因功能学研究策略  

Genetic and functional research strategies of non-syndromic cleft lip with or without cleft palate in the post genome-wide association study era

作　　者：杨怡欣 李沐嘉 郑谦[1] 石冰[1] 贾仲林[1] Yang Yixin;Li Mujia;Zheng Qian;Shi Bing;Jia Zhonglin(Department of Cleft Lip and Palate Surgery,West China Hospital of Stomatology,Sichuan University,&State Key Laboratory of Oral Diseases&National Center for Stomatology&National Clinical Research CenterforOralDiseases,Chengdu610041,China)

机构地区：[1]四川大学华西口腔医院唇腭裂外科,口腔疾病防治全国重点实验室,国家口腔医学中心,国家口腔疾病临床研究中心,成都610041

出　　处：《中华口腔医学杂志》2024年第6期634-639,共6页Chinese Journal of Stomatology

基　　金：国家自然科学基金(82170919);四川大学华西口腔医院交叉项目(RD-03-202301)。

摘　　要：全基因组关联研究(GWAS)的出现推动了非综合征型唇腭裂(NSCL/P)的遗传学研究。目前由GWAS报道的NSCL/P易感区域有40余个,但这些区域内的易感位点及其功能尚不明确。在后GWAS时代,精确定位易感区域内的易感位点并探究其背后的生物学机制将有助于进一步深入认识NSCL/P的遗传病因。本文结合近年相关研究进展,对后GWAS时代NSCL/P遗传学及易感基因功能学研究策略作一综述。The emergence of genome-wide association studies(GWAS)has greatly promoted the genetic research of non-syndromic cleft lip with or without cleft palate(NSCL/P).There have been more than 40 regions concerning NSCL/P identified by GWAS,whereas specific susceptible loci and their potential function remains unclear.In the post-GWAS era,precise localization of susceptible loci in candidate regions and exploration of underlying biological mechanism will contribute to further understanding of genetic etiology of NSCL/P.The present article reviewed the genetic and functional research strategies of NSCL/P in post-GWAS era.

关 键 词：唇裂 腭裂 非综合征型唇腭裂 全基因组关联研究 多态性 单核苷酸 功能研究 

分 类 号：R782[医药卫生—口腔医学]