Abstract

Background: Previously, only a few studies have investigated the association of AXIN2 polymorphisms with nonsyndromic cleft lip with or without cleft palate (NSCLP) risk. Objective: The aim of this study was to examine the association of rs2240308 C > T, rs1133683 C > T, and rs7224837 A > G polymorphisms of the AXIN2 gene with NSCLP risk in Iranian children. Methods: The study was comprised of 120 NSCLP cases and 120 controls. The AXIN2 polymorphisms were genotyped using PCR-RFLP assay. Results: The mutant homozygote genotype (TT) of AXIN2 rs1133683 C > T polymorphism was associated with increased risk of NSCLP. There was no significant association between rs2240308 C > T and rs7224837 A > G polymorphisms of the AXIN2 gene with an increased risk of NSCLP. Conclusion: This study indicates that AXIN2 rs1133683 C > T polymorphism may modify NSCLP susceptibility in the Iranian children, but not the rs2240308 C > T and rs7224837 A > G polymorphisms.