<i><scp>FOXE</scp>1</i> polymorphisms and non‐syndromic orofacial cleft susceptibility in a Chinese Han population

Xu, Yin; Zhang, H; Zhu, Zaiou; Wang, H; Du, Yifei; Li, S; Zhang, Z; Fan, Weimin; Pan, Yongchu

doi:10.1111/odi.12435

Cited by 10 publications

(8 citation statements)

References 25 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…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.…”

Section: Discussionmentioning

confidence: 99%

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

Mukhopadhyay

Seelan

Rezzoug

et al. 2017

Reproductive Toxicology

View full text Add to dashboard Cite

In this study, we identify gene targets and cellular events mediating the teratogenic action(s) of 5-Aza-2′-deoxycytidine (AzaD), an inhibitor of DNA methylation, on secondary palate development. Exposure of pregnant mice (on gestation day (GD) 9.5) to AzaD for 12 hrs resulted in the complete penetrance of cleft palate (CP) in fetuses. Analysis of cells of the embryonic first branchial arch (1-BA), in fetuses exposed to AzaD, revealed: 1) significant alteration in expression of genes encoding several morphogenetic factors, cell cycle inhibitors and regulators of apoptosis; 2) a decrease in cell proliferation; and, 3) an increase in apoptosis. Pyrosequencing of selected genes, displaying pronounced differential expression in AzaD-exposed 1-BAs, failed to reveal significant alterations in CpG methylation levels in their putative promoters or gene bodies. CpG methylation analysis suggested that the effects of AzaD on gene expression were likely indirect.

show abstract

Section: Discussionmentioning

confidence: 99%

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

Mukhopadhyay

Seelan

Rezzoug

et al. 2017

Reproductive Toxicology

View full text Add to dashboard Cite

show abstract

“…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.…”

Section: Discussionmentioning

confidence: 99%

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

Xiao

Jia

Guo

et al. 2020

Orthod Craniofacial Res

View full text Add to dashboard Cite

Objective The purpose of the present work was to investigate the association between forkhead box E1 (FOXE1) and the risk of non‐syndromic cleft lip with or without cleft palate (NSCL/P). Materials and Methods Relevant studies were searched in several professional databases up to 31 July 2019. The pooled odds ratios (ORs) and 95% confidence intervals (95% CIs) were calculated using a fixed‐effect model or a random‐effect model to analyse the relationship between FOXE1 polymorphisms and NSCL/P. Results A total of four single nucleotide polymorphisms (SNPs), including rs3758249, rs4460498, rs1443434 and rs10217225, were analysed. The overall findings showed that FOXE1 rs4460498 was statistically associated with NSCL/P (including cleft lip with or without cleft palate (CL/P) and cleft palate only (CPO)). Genotypes CC and CT of rs4460498 were significantly more closely correlated with NSCL/P (including CL/P and CPO) than genotype TT (NSCL/P: TT vs CC, OR = 0.630, P = .000; TT vs TC + CC, OR = 0.775, P = .020; CL/P: TT vs CC, OR = 0.664, P = .000; TT vs TC + CC, OR = 0.738, P = .006. CPO: TT vs CC, OR = 0.761, P = .027; TT vs TC + CC, OR = 0.792, P = .045). For rs10217225, only the TT genotype might have contributed to the elevated risk of CL/P (TT vs CC OR = 2.236, P = .000). The other FOXE1 polymorphisms were not associated with NSCLP, CL/P or CPO. Conclusion The meta‐analysis provided confirmation that the polymorphism of FOXE1 rs10217225 was correlated with an increased risk of CL/P, and the polymorphism of FOXE1 rs4460498 was a protective factor for NSCL/P, including CLP and CPO.

show abstract

“…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, ].…”

Section: Discussionmentioning

confidence: 99%

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

Lammer¹,

Mohammed²,

Iovannisci³

et al. 2016

American J of Med Genetics Pt A

View full text Add to dashboard Cite

We investigated whether orofacial clefts are associated with polymorphic variation within and around FOXE1. This California population-based case control study focused on white Hispanic and white nonHispanic infants among which there were 262 infants with cleft lip with or without cleft palate (CL/P), 103 with cleft palate only (CPO), and 382 unaffected controls. These cases and controls were genotyped for 13 SNPs across 220 Kb at the FOXE1 Locus. We observed associations with multiple FOXE1 SNPs for CL/P and for CPO, especially for the Hispanic study population. Increased risks were associated with the more common allele for all SNPs tested. Our results implicate FOXE1 as an important locus whose polymorphic variation increases risks for all types of isolated clefts, and opens a new biological pathway to investigate in efforts to understand genetic factors underlying human clefting. © 2016 Wiley Periodicals, Inc.

show abstract

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.

Cited by 10 publications

References 25 publications

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

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

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

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

Contact Info

Product

Resources

About