Association of Axis Inhibition Protein 2 Polymorphisms with Non-Syndromic Cleft Lip with or without Cleft Palate in Iranian Children.

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.