非综合征型单纯腭裂遗传流行病学研究进展  

Progress in genetic epidemiology of non-syndromic cleft palate only

作　　者：薛恩慈 王斯悦 郑鸿尘 王梦莹[1] 王雪珩 陈曦 江锦 李静[2] 李楠[2] 周治波[2] 朱洪平[2] 吴涛[1] Xue Enci;Wang Siyue;Zheng Hongchen;Wang Mengying;Wang Xueheng;Chen Xi;Jiang Jin;Li Jing;Li Nan;Zhou Zhibo;Zhu Hongping;Wu Tao(Department of Epidemiology and Biostatistics,School of Public Health,Peking University,Beijing 100191,China;Department of Pediatrics/Department of Oral and Maxillofacial Surgery,School of Stomatology,Peking University,Beijing 100081,China)

机构地区：[1]北京大学公共卫生学院流行病与卫生统计学系,100191 [2]北京大学口腔医院儿科/颌面外科,100081

出　　处：《中华流行病学杂志》2021年第6期1133-1138,共6页Chinese Journal of Epidemiology

基　　金：国家自然科学基金(81102178,81573225);北京市自然科学基金(7172115)。

摘　　要：单纯腭裂是一种较为常见的出生缺陷,其中非综合征型单纯腭裂(NSCPO)占50%。NSCPO是受遗传和环境共同作用的复杂疾病,与非综合征型唇裂伴或不伴腭裂(NSCL/P)不同,通过全基因组关联研究发现的与NSCPO相关的常见遗传变异相对较少。本文对NSCPO的遗传流行病学研究进展进行综述。根据现有研究证据将已发现的NSCPO候选基因分为研究证据比较充分的候选基因、具备一定研究证据的候选基因和现有研究证据较少的候选基因三类,展望了表观遗传学研究、新一代测序技术、交互作用分析在NSCPO病因探索中的应用,为进一步开展病因学研究提供线索。One of the most common birth defects is cleft palate only(CPO)of which non-syndromic cleft palate only(NSCPO)accounts for 50%.NSCPO is a complex disease where multiple genes and environmental factors contribute to its risk.Unlike non-syndromic cleft lip with or without cleft palate(NSCL/P),previous genome-wide association studies only identified a few common genetic variations achieving genome-wide significance.This review summarizes the recent findings on genetic epidemiology of NSCPO.According to the current evidence,the candidate genes are divided into three categories:candidate genes with strong evidence,candidate genes with suggestive evidence,and candidate genes with inadequate evidence.The findings of epigenetic studies,the next generation sequencing studies,interaction analysis on NSCPO are also reviewed.

关 键 词：单纯腭裂 非综合征型单纯腭裂 遗传易感因素 

分 类 号：R782.22[医药卫生—口腔医学] R181.3[医药卫生—临床医学]