FOXE1 polymorphisms and non‐syndromic orofacial cleft susceptibility in a Chinese Han population

Abstract

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

Determinants of orofacial clefting I: Effects of 5-Aza-2′-deoxycytidine on cellular processes and gene expression during development of the first branchial arch

“…Proper bone and cartilage formation are critical to normal craniofacial development. Given that bone formation and chondrogenesis are both regulated in part by the functions of both Foxc2 [79] and Foxe1 [80], and that polymorphisms in both of these transcription factors have been linked to facial clefts [81–83], this provides added importance to these two transcription factors as foci for AzaD induced cleft palate. Adding weight to such linkage is the observation that FOXE1 functionally targets MSX1 and TGFβ3 [84], both of which play key roles in development of the palate.…”

Association between forkhead box E1 polymorphisms and risk of non‐syndromic cleft lip with or without cleft palate: A meta‐analysis

“…Venza et al found that MYF‐5 exerts a molecular control on FOXE1 activity, and they hypothesized that the two proteins may be considered as key regulators of palatal fusion. It is interesting to note that Yin et al found that two alleles of FOXE1 contributed to significant differential binding ability with target miRNA, thus indicating a possible mechanism of ‘SNP affecting mRNA‐miRNA interaction’ in the development of NSCL/P. Lidral et al stated that genetic variation of FOXE1 contributes to the occurrence of NSCL/P.…”

Genetic variation of FOXE1 and risk for orofacial clefts in a California population

“…A European study has also shown association with CL/P and CPO [Ludwig et al, ]. In a Chinese population that genotyped only three putatively functional SNPs, an association was found with a 3′ SNP with only CLO [Yin et al, ]. In another Chinese study, genotyping only two (rs3758249 and rs4460498) markers showed an association with CL/P, but ORs for CPO had accompanying CIs that overlapped 1.0 [Liu et al, ].…”