非综合征性唇腭裂候选基因和位点研究进展

Candidate gene and loci involved in nonsyndromic cleft lip with or without cleft palate

先天性唇腭裂是一种常见的出生缺陷,其病因复杂,目前认为是遗传因素和环境因素共同作用的结果。最常见的是非综合征型唇腭裂(NSCL/P),其发病机制尚无定论。近来,研究人员采用流行病学分析、详细分型、全基因组关联研究和动物模型的分析相结合,一些新的候选基因和位点已经确定与NSCL/P有关。这些发现推进了发育生物的理解,也为临床转化研究创造了新的机遇。

Cleft lip and palate （CL/P） are common birth defects of complex aetiology. The aetiology of the more common non-syndromic （isolated） forms remains poorly characterized. Recently, using a combination of epidemiology, careful phenotyping, genome-wide association studies and analysis of animal models, several distinct genetic and environmental risk factors have been identified and confirmed for non-syndromic CL/P. These findings have advanced our understanding of developmental biology and created new opportunities for clinical translational research.