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

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.