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. 2023 Apr 1;18(1):20230677.
doi: 10.1515/med-2023-0677. eCollection 2023.

IRF6 and FGF1 polymorphisms in non-syndromic cleft lip with or without cleft palate in the Polish population

Alicja Zawiślak  1   2 , Krzysztof Woźniak  3 , Beata Kawala  4 , Satish Gupta  5 , Anna Znamirowska-Bajowska  4 , Joanna Janiszewska-Olszowska  2 , Jan Lubiński  5 , José Luis Calvo-Guirado  6 , Katarzyna Grocholewicz  2 , Anna Jakubowska  5
Affiliations

IRF6 and FGF1 polymorphisms in non-syndromic cleft lip with or without cleft palate in the Polish population

Alicja Zawiślak et al. Open Med (Wars). .

Abstract

Non-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) in IRF6 and FGF1 have been associated with NSCL/P. This study aimed to evaluate whether SNPs in IRF6, namely rs2013162, rs642961, rs2235373, and rs34010 in FGF1, 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 of IRF6 gene 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 in FGF1, the presence of the AA genotype was statistically significant in reducing the risk of NSCL/P (OR = 0.31, p = 0.001). Genetic variation in FGF1 is an important risk marker of NSCL/P in the Polish population, which cannot be stated for the polymorphisms in the IRF6 gene.

Keywords: FGF1; IRF6; birth defect; cleft lip; cleft palate; genetic variation; single nucleotide polymorphism.

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Conflict of interest statement

Conflict of interest: The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Graphical distribution of genotypes for rs34010.
See this image and copyright information in PMC

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