Association Of MSX1 Genetic Polymorphism With Non-syndromic Cleft With Or Without Cleft Palate

Oral cleft,including cleft lip with or without palate ( CL/P ) and cleft palate(CP),constitute one of the most common groups of conggenital abnormalities(CAs),affecting up to 1 in 1000 live-born infants worldwide.Birth prevalence of CL/P and CP is generally higher in Asian population compared to European populations or other racial groups.There are 1.2 oral cleft cases per 1000 live births each year in china.Oral cleft have a complex and heterogeneous etiology. It mendelism inheritance Genes and their interactions with other genes,and gene-environment interactions is compiled to provide the reader with a critical and up-to-date overview on the current knowledge of the etiology of cleft lip and palate.So far, approximately 20 genes had been related to the etiology of cleft lip and palate.Localization of genes and the analytical method is hot point of studying the etiology of cleft lip and palate.A number of candidate genes have been indentified for orofacial clefts,although no single candidate has been consistently indentified in all studies.MSX1 gene located on chromosome 4p16.1, containing two exons and one intron.MSXl as a nuclear transcription factor, with the promotion of growth and development and suppression of differentiation function, is the main regulatory genes of the process of organ development. So far,only Msx1 is not only expressed early in development of head–face embryo of mice,but the mice represent palate cleft when knockoutting the gene. Because the difference of region,environment and race,the result about MSX1 is different in the report at home and aboard.We performed case-control studies on 1 Single Nucleotide Polymorphism (SNP) in the MSX1 gene using a sample of 162 NSCL/P patients from ShanXi of China,compared with 195 unmatched controls,to find the association between MSX1 and NSCL/P.Objective To investigate the association of muscle segment homeoboxl (MSX1 ) gene A274V Polymorphisms with Non-syndromic cleft lip with or without cleft palate (NSCL/P) Chinese population.Metheds Genotyping of rs62636562 was conducted by PCR-based restriction fragment length polymorphism ( RFLP) analysis in both 162 patients and the 195 controls. Theχ2 goodness-of-fit test was applied to test whether or not the genotypic distributions of rs62636562 would be in Hardy-Weinberg equilibrium.SPSS17.0 and Unphased3.0 program was used to performχ2 test for the associations.Results The genotypic distribution of A274V was not deviated from the Hardy-Weinberg equilibrium.The allele frequencies were significantly different between patients with NSCL/P and healthy individuals. (P<0.05). The frequency of T alleles in the patients was higher than of C alleles compared with healthy individual.Conclusion The polymorphism of MSX1 A274V is associated with NSCL/P Chinese population and may play a crucial role in the occurrence of this disease.