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

Area of Science:

• Genetics and Developmental Biology
• Craniofacial Development
• Population Genetics

Background:

• Non-syndromic cleft lip with or without cleft palate (NSCL/P) is a common birth defect impacting oral and facial structures.
• The etiology of NSCL/P is multifactorial, with genetic factors playing a significant role.
• Previous studies have implicated single nucleotide polymorphisms (SNPs) in the IRF6 and FGF1 genes in NSCL/P development.

Purpose of the Study:

• To investigate the association between specific SNPs in the IRF6 and FGF1 genes and the occurrence of NSCL/P in the Polish population.
• To identify potential genetic risk markers for NSCL/P in this demographic.

Main Methods:

• A case-control study involving 627 participants (209 with NSCL/P, 418 healthy controls) from the Polish population.
• DNA extraction from saliva (cases) and umbilical cord blood (controls).
• Genotyping of IRF6 SNPs (rs2013162, rs642961, rs2235373) and FGF1 SNP (rs34010) using quantitative PCR.

Main Results:

• No statistically significant association was found between the studied IRF6 gene variants and NSCL/P occurrence.
• The AA genotype of the rs34010 polymorphism in the FGF1 gene was significantly associated with a reduced risk of NSCL/P (OR = 0.31, p = 0.001).
• The FGF1 rs34010 polymorphism emerged as a significant risk marker for NSCL/P in the Polish population.

Conclusions:

• Genetic variations in the FGF1 gene, particularly the rs34010 polymorphism, are important risk markers for NSCL/P in the Polish population.
• The studied polymorphisms in the IRF6 gene do not appear to be associated with NSCL/P in this population.
• Further research is warranted to elucidate the role of FGF1 in NSCL/P pathogenesis.