Lin Wang
Nanjing Medical University
China
Title: Polymorphisms in 3’UTR of FGF genes contribute to nonsyndromic oral cleft risk in a Chinese Han population
Biography
Biography: Lin Wang
Abstract
Non-syndromic orofacial clefts (NSOC) are congenital defects with complex etiology. Single nucleotide polymorphisms (SNPs) in 3’UTR of candidate genes were considered to be associated with NSOC susceptibility by affecting binding ability of miRNA to the target mRNA. Fibroblast growth factors (FGF) and fibroblast growth factor receptors (FGFR) serve critical functions in orofacial development. The aim of the present study is to explore associations between SNPs within 3’UTR of fibroblast growth factor (FGF) and their receptor (FGFR) genes and risk of NSOC. Finally, 11 SNPs were selected and genotyped in a 602 cases /602 controls study. 3 of them (FGF2/rs1048201, P=0.026; FGF5/rs3733336, P<0.001; FGF9/rs546782, P=0.043) were proved to be associated with NSOC susceptibility. Their respective potentially binding microRNAs were predicted by bioinformatic analysis and confirmed by luciferase activity assay in vitro, which was further confirmed by mRNA and protein expression in vivo. In conclusion, our findings indicated 3 SNPs in 3’UTR of FGF genes were associated with NSOC by a possible mechanism of modifying miRNA-mRNA interaction.