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.
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。.