FOXE1polymorphisms and non-syndromic orofacial cleft susceptibility in a Chinese Han population

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FOXE1plays an important role in craniofacial development. The aim of this study was to investigate associations between genetic variants ofFOXE1and risk of non-syndromic orofacial clefts in a Chinese population.


Three potentially functional SNPs ofFOXE1(rs3758250 and rs907577 in the 5′ upstream and rs7043516 in the 3′-UTR) were selected and their associations with non-syndromic orofacial cleft susceptibility were investigated in a case–control study from a Chinese population (602 cases and 605 controls). Genotyping was performed with double ligation and multiplex fluorescence PCR. Associations between the SNPs and risk of non-syndromic orofacial clefts and its subgroups were estimated from unconditional logistic regression analysis. Luciferase reporter assay was conducted to assess SNP function.


Overall, we did not find any of the individual SNP or haplotype was associated with NSOC susceptibility. Nevertheless, in stratified analysis, we found rs7043516, locating in the 3′-UTR ofFOXE1,was associated with risk of cleft lip only. Furtherin vitroluciferase assay indicated that this SNP could contribute to differential binding ability with miRNA.


Taken together, this study showed that rs7043516 may be considered as a potentially susceptible marker of cleft lip only among Chinese Han populations.

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