Progress in genetic epidemiology of non-syndromic cleft palate only

VernacularTitle:非综合征型单纯腭裂遗传流行病学研究进展
Author: Enci XUE ¹ ; Siyue WANG ; Hongchen ZHENG ; Mengying WANG ; Xueheng WANG ; Xi CHEN ; Jin JIANG ; Jing LI ; Nan LI ; Zhibo ZHOU ; Hongping ZHU ; Tao WU
Author Information

1. 北京大学公共卫生学院流行病与卫生统计学系　100191
Keywords: Cleft palate only; Non-syndromic cleft palate only; Genetic risk factors
From: Chinese Journal of Epidemiology 2021;42(6):1133-1138
CountryChina
Language:Chinese
Abstract: 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.