MAFB基因多态性与非综合征型唇腭裂的研究进展  

Research progress on MAFB gene polymorphism and nonsyndromic cleft lip and palate

作　　者：王世奎 宋庆高 兰雪娇 WANG Shikui;SONG Qinggao;LAN Xuejiao(Zunyi Medical University,Zunyi 563000,China;Department of Oral and Maxillofacial Surgery,Affiliated Stomatological Hospital of Zunyi Medical University,Zunyi 563000,China)

机构地区：[1]遵义医科大学,贵州遵义563000 [2]遵义医科大学附属口腔医院口腔颌面外科,贵州遵义563000

出　　处：《口腔疾病防治》2021年第1期61-64,共4页Journal of Prevention and Treatment for Stomatological Diseases

基　　金：国家自然科学基金(81860191、81560182)。

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 musculoapo⁃neurotic 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。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 musculo⁃aponeurotic 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 polymor⁃phism(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 develop⁃ment 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 sin⁃gle nucleotide loci,and the research conclusions on the correlation between SNPs in MAFB genes are obviously differ⁃ent in different populations.The interaction between the MAFB gene and other susceptibility genes leads to the occur⁃rence 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.

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 

分 类 号：R78[医药卫生—口腔医学]