非综合征型唇腭裂二代测序研究进展

摘要

Non-syndromic oral clefts (NSOC) are among the most common birth defects.The prevalence of NSOC is 1.13-1.30 per 1 000 live births in China,which is higher than those in other major ethnic groups.The etiology of NSOC is complex and heterogeneous,which involves both genetic and environmental risk factors.Although genome-wide association studies have identified a number of risk loci,these loci can only account for a small proportion of the heritability of NSOC.The next-generation sequencing research provides new ideas for further exploring the genetic risk factors of NSOC.This paper summaries the progress in the next-generation sequencing research of NSOC.%非综合征型唇腭裂(NSOC)是一种常见的出生缺陷.中国活产儿NSOC患病率为1.13/1 000活产儿～ 1.30/1 000活产儿,高于其他种族人群.NSOC是受基因和环境因素共同作用的复杂疾病,虽然全基因组关联研究发现了NSOC的多个遗传致病位点,但目前发现的遗传位点只能解释NSOC一小部分遗传度,未被解释的遗传度可能来自罕见遗传变异、拷贝数变异以及交互作用等.二代测序研究为进一步探索NSOC遗传危险因素提供了新的方法和思路,本文将对NSOC二代测序研究进行综述.