Association Between TPM1 Gene Polymorphisms and Idiopathic Congenital Talipes Equinovarus Risk in a Chinese Population.

Background

Idiopathic congenital talipes equinovarus (ICTEV) is one of the most common congenital deformities of children, and dysplasia of the striated muscle may be one of the causes of ICTEV. Previous studies have shown that polymorphisms of the rs4075583 SNP in the tropomyosin gene 1 (TPM1) were associated with ICTEV in Caucasian children. However, there are no studies investigating the correlations of TPM gene polymorphisms with the risk of ICTEV in Chinese children.

Methods

We conducted a case-control study, including 430 children with ICTEV and 891 ICTEV-free children. We explored the potential correlations of three TPM gene polymorphisms (TPM1/rs4075583 G>A, tropomyosin gene 2 (TPM2)/rs2145925 C>T, and TPM2/rs2025126 G>A) with ICTEV risk. The three single nucleotide polymorphisms (SNPs) were genotyped using a TaqMan method. We calculated the odds ratios (ORs) and adjusted ORs and their 95% confidence intervals (CIs) to explore the associations between these selected SNP polymorphisms and ICTEV.

Results

TPM1 rs4075583 A was found to be associated with an increased ICTEV risk (AA vs. GG: adjusted OR = 1.70, 95% CI = 1.15-2.49, p = 0.007; and GG/GA vs. AA: adjusted OR = 1.62, 95% CI = 1.14-2.31, p = 0.0071) after adjusting for age and sex. In addition, a risk effect of rs4075583 GA/AA with ICETV was observed for patients with affected right feet (adjusted OR = 1.62, 95% CI = 1.10-2.39, p = 0.014) in the stratified analysis. However, there were no significant differences in the risk for ICTEV associated with the rs2145925 and rs2025126 polymorphisms.

Conclusion

These results indicate that the TPM1 rs4075583 G > A polymorphism is associated with ICTEV risk in a southern Chinese population; however, this finding needs to be confirmed in larger studies and through mechanistic studies.