Association between MSX1 variants and oral clefts in Han Chinese in western China

Previous animal and association studies have shown that the MSX1 gene is associated with oral clefts. Our aim was to investigate association between variants in the MSX1 gene and oral clefts in a Han Chinese population. Our study group consisted of 206 nonsyndromic oral cleft (NSOC) nuclear families (including the patients and their parents) and 224 controls. The three variants evaluated in this study were single-nucleotide polymorphisms rs3821949 and rs12532 and a missense mutation P147Q. Polymerase chain reaction-restriction fragment length polymorphism was used to genotype the three markers. Case-control and family-based association analyses were carried out. In the case-control analysis, no significant differences in genotypic or allelic frequencies were observed in any of the two single-nucleotide polymorphisms between patients and controls. Although the homozygous T allele for P147Q was not detected in any sample in this population, heterozygotes were more prevalent in NSOC (1.2%) when compared with the controls (0%). The analyses for family-based association did not suggest association between any of the three variants and NSOC. No significant association was found between NSOC and rs3821949 or rs12532 in MSX1 gene, whereas an association was observed between the P147Q variant and cleft lip with cleft palate in the case-control analysis.