Wnt3基因多态性与非综合征型唇腭裂易感性的研究进展

Research progress on Wnt3 gene polymorphism and susceptibility to non-syndromic cleft lip and palate

非综合征型唇腭裂(NSCL/P)是一种世界范围内常见的先天性疾病,其病因与遗传和环境因素的共同作用有关。虽然全基因组关联分析没有涉及到Wnt基因中的单核苷酸多态性(SNPs),但Wnt基因中的SNPs与NSCL/P有关,对Wnt基因SNPs及其相应表型效应的研究有助于解释NSCL/P的病因机制。rs142167、rs3809857、rs9890413等是近年研究较多的主要致畸单核苷酸位点,在不同人群中相关性的研究结论有着明显差异,文章对Wnt3基因多态性与NSCL/P的相关性研究进展进行综述。

Non-syndromic cleft lip with/without cleft palate(NSCL/P)is a common congenital disease worldwide,and its etiology is related to the combination of genetic and environmental factors. Although genome-wide association analysis did not involve Single Nucleotide Polymorphisms(SNPs)in Wnt genes,it has been reported that SNPs in Wnt genes are related to NSCL/P,and the study of SNPs of Wnt genes and its corresponding phenotypic effect is helpful to explain the etiological mechanism of NSCL/P. In recent years,Wnt3 gene related to NSCL/P,rs142167,rs3809857,rs9890413 and other teratopoietic single nucleotide loci are the main teratopoietic single nucleotide loci studied most,and the research conclusions on the correlation between Wnt3 gene polymorphism and NSCL/P are obviously different in different populations. This paper reviews the research progress on the correlation between Wnt3 gene polymorphism and NSCL/P.