Association between polymorphisms in AXIN1 gene and atrial septal defect.

Context: AXIN1 is a central component of Wnt signalling pathway which is essential for embryonic development. Objective: To investigate whether polymorphisms of AXIN1 contribute to ASD susceptibility. Materials and methods: Three tag SNPs (rs12921862, rs370681 and rs1805105) in AXIN1 were genotyped in 208 ASD patients and 302 healthy controls using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in a Chinese population. Results: Significantly increased ASD risk was observed to be associated with the A allele of rs12921862 ( p < 0.0001, OR = 3.096, 95% CI = 2.037-4.717). Increased ASD risk was observed to be associated with rs370681 in a codominant ( p = 0.043, OR = 1.52, 95% CI = 1.04-2.22) and overdominant model ( p = 0.016, OR = 1.57, 95% CI = 1.08-2.27). Conclusion: rs12921862 and rs370681 may contribute to ASD susceptibility. [ABSTRACT FROM AUTHOR]