Institute of Human Genetics, University of Bonn, Sigmund-Freud-Str. 25, 53127 Bonn, Germany.
Trends Mol Med. 2011 Dec;17(12):725-33. doi: 10.1016/j.molmed.2011.07.007. Epub 2011 Aug 30.
Nonsyndromic orofacial clefts have a multifactorial etiology, involving both genetic and environmental factors. Although linkage and candidate gene studies have attempted to elucidate the underlying genetic architecture, only the interferon regulatory factor 6 (IRF6) gene has been identified as causative. The recent introduction of high-throughput genotyping technologies has enabled researchers to perform genome-wide association studies (GWAS). Four GWAS of nonsyndromic cleft lip with or without cleft palate have been conducted, and these have identified five new chromosomal loci. One locus, located in an intergenic region of chromosome 8q24, has been implicated in all GWAS and constitutes a major susceptibility locus. This review describes the latest genetic findings for nonsyndromic orofacial clefts and discusses their biological and functional implications.
非综合征性口面裂具有多因素病因，涉及遗传和环境因素。尽管连锁和候选基因研究试图阐明潜在的遗传结构，但只有干扰素调节因子 6（IRF6）基因被确定为致病基因。最近高通量基因分型技术的引入使研究人员能够进行全基因组关联研究（GWAS）。已经进行了四项非综合征性唇裂伴或不伴腭裂的 GWAS，这些研究确定了五个新的染色体位点。一个位于 8q24 染色体基因间区域的位点与所有 GWAS 相关，并构成主要易感位点。本文综述了非综合征性口面裂的最新遗传发现，并讨论了它们的生物学和功能意义。
