IRF6andFGF1polymorphisms in non-syndromic cleft lip with or without cleft palate in the Polish population

Abstract

AbstractNon-syndromic cleft lip with or without cleft palate (NSCL/P) is the most common developmental defect that significantly affects the morphology and function of the stomatognathic system in children. The etiology of these birth defects is multifactorial, and single nucleotide polymorphisms (SNPs) inIRF6andFGF1have been associated with NSCL/P. This study aimed to evaluate whether SNPs inIRF6, namely rs2013162, rs642961, rs2235373, and rs34010 inFGF1, are associated with NSCL/P occurrence in the Polish population. The study included 627 participants: 209 children with NSCL/P and 418 healthy controls. DNA was isolated from saliva in the study group and from umbilical cord blood in controls. Genotyping of polymorphisms was performed using quantitative PCR. There was no statistically significant association ofIRF6gene variants with NSCL/P occurrence, although for rs2013162, AA genotype, odds ratio (OR) = 1.16 and for AC genotype, OR = 0.83; for rs642961, AA genotype, OR = 0.84 and for AG genotype, OR = 1.41; and for rs2235373, AA genotype, OR = 0.79 and for AG, OR = 0.85. In the instance of rs34010 polymorphism inFGF1, the presence of the AA genotype was statistically significant in reducing the risk of NSCL/P (OR = 0.31,p= 0.001). Genetic variation inFGF1is an important risk marker of NSCL/P in the Polish population, which cannot be stated for the polymorphisms in theIRF6gene.