Abstract:

Nonsyndromic cleft lip with/without cleft palate is a common congenital birth defect of the maxillofacial region. The pathogenic mechanism is related to the interaction of genes and environmental factors. At present, there are many studies on genes, and genome-wide association analysis has found that the new susceptibility gene v-maf musculoaponeurotic fibrosarcoma oncogene homolog B (MAFB) is associated with the development of nonsyndromic cleft lip with/without cleft palate. This paper reviews the research progress on the correlation between single nucletide polymorphism(SNPs) in MAFB and nonsyndromic cleft lip with/without cleft palate. The results of this review reveal how the MAFB gene is expressed and differentiated in various cell types and plays an important role in maintaining the development of various organs, such as the brain, pancreas, and parathyroid glands. The MAFB gene is significantly associated with the occurrence of nonsyndromic cleft lip with/without cleft palate in the Asian population. rs13041247, rs11696257, rs17820943 and other teratopoietic single nucleotide loci are the most commonly studied teratopoietic single nucleotide loci, and the research conclusions on the correlation between SNPs in MAFB genes are obviously different in different populations. The interaction between the MAFB gene and other susceptibility genes leads to the occurrence of nonsyndromic cleft lip with/without cleft palate; nevertheless, more in-depth research is needed on specific mechanisms and approaches based on the relationship between these two factors.

Key words: non-syndromic cleft lip with/without cleft palate, v-maf musculoaponeurotic fibrosarcoma oncogene homolog B, gene polymorphisms, single nucleotide polymorphisms, rs13041247, rs11696257, rs17820943

摘要：

非综合征型唇腭裂是常见的先天性颌面部畸形,致病机制与基因及环境因素互相作用有关。目前针对基因研究较多,全基因组关联分析发现新型易感基因肌腱膜纤维肉瘤癌基因同源物B（v-maf musculoaponeurotic fibrosarcoma oncogene homolog B,MAFB）与非综合征型唇腭裂发病有关,本文以MAFB基因单核苷酸多态性（single nucleotide polymorphisms,SNPs）与非综合征型唇腭裂的相关性进行综述。结果表明,MAFB基因在多种细胞类型中表达分化,对维持脑、胰腺、甲状旁腺等多种器官及组织的发育起重要作用 ,MAFB基因与亚洲人群非综合征型唇腭裂的发生有明显关联。目前研究相对较多的主要致畸单核苷酸位点包括rs13041247、rs11696257、rs17820943等,在不同种族中研究结论有明显差异;MAFB基因与其他易感基因互相作用共同导致非综合征型唇腭裂的发生,但其相关机制、作用途径等还需要深入研究。

关键词: 非综合征型唇腭裂, v-maf肌腱膜纤维肉瘤癌基因同源物B, 基因多态性, 单核苷酸多态性, rs13041247, rs11696257, rs17820943