Journal
ORAL DISEASES
Volume 22, Issue 4, Pages 274-279Publisher
WILEY
DOI: 10.1111/odi.12435
Keywords
FOXE1; non-syndromic orofacial clefts; SNPs; susceptibility
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Funding
- National Natural Science Foundation of China [81570959, 81170981, 81230022, 81400546, 81200808]
- Ph.D. Programs Foundation of Ministry of Education of China [20113234110003, 20123234120004]
- China Postdoctoral Science Foundation [20100481164, 201104537]
- Jiangsu Planned Projects for Postdoctoral Research Funds [1101026C]
- Priority Academic Program Development of Jiangsu Higher Education Institutions (PAPD) [2014-37]
- Xuzhou Science and Technology Project [XZZD1245]
- Natural Science Foundation of Jiangsu Province [BK2012447, 15KJA320002]
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ObjectiveFOXE1 plays an important role in craniofacial development. The aim of this study was to investigate associations between genetic variants of FOXE1 and risk of non-syndromic orofacial clefts in a Chinese population. Materials and MethodsThree potentially functional SNPs of FOXE1 (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. ResultsOverall, 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 of FOXE1, was associated with risk of cleft lip only. Further invitro luciferase assay indicated that this SNP could contribute to differential binding ability with miRNA. ConclusionsTaken 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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