Jingchun Li1, Jianping Wu1, Yanhan Liu1, Yiqiang Li1, Zhilan Xiao2, Xiaoling Jiang2, Yaping Tang2, Hongwen Xu1. 1. Department of Paediatric Orthopaedics, Guangzhou Women and Children's Medical Centre, Guangzhou Medical University, Guangzhou, Guangdong, China. 2. Department of Paediatric Surgery, Guangzhou Institute of Paediatrics, Guangzhou Medical University, Guangzhou, Guangdong, China.
Abstract
BACKGROUND: Congenital talipes equinovarus (CTEV) is the most common congenital deformity in children, and muscular dysplasia plays a potential role in the etiology of CTEV. Notably, previous studies have found that HOXA9 rs3801776 and TPM2 rs2025126 genetic polymorphisms play important roles in regulating muscle development in Caucasian children; however, there is a lack of investigations conducted in Chinese children. METHODS: We conducted a hospital-based, case-control study of 189 children with CTEV and 457 CTEV-free children aiming to examine the associations between these two polymorphisms and CTEV susceptibility. The rs3801776 (G>A) and rs2025126 (G>A) polymorphisms were genotyped using TaqMan. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated to measure the associations between the selected polymorphisms and CTEV susceptibility. RESULTS: We found that rs3801776A was associated with increased CTEV risk (GA versus GG: adjusted OR = 1.81, 95% CI = 1.22-2.69, p = 0.0031; AA versus GG: adjusted OR = 2.19, 95% CI = 1.28-3.73, p = 0.0041; GA/AA versus GG: adjusted OR = 1.89, 95% CI = 1.29-2.76, p = 0.0010). In a stratified analysis, the risk effect of rs3801776 GA/AA was observed in both unilateral and bilateral patients. CONCLUSIONS: The present study suggests that the rs3801776 G>A polymorphism is associated with CTEV risk in Chinese children; however, this conclusion should be validated in larger studies.
BACKGROUND:Congenital talipes equinovarus (CTEV) is the most common congenital deformity in children, and muscular dysplasia plays a potential role in the etiology of CTEV. Notably, previous studies have found that HOXA9rs3801776 and TPM2rs2025126 genetic polymorphisms play important roles in regulating muscle development in Caucasian children; however, there is a lack of investigations conducted in Chinese children. METHODS: We conducted a hospital-based, case-control study of 189 children with CTEV and 457 CTEV-free children aiming to examine the associations between these two polymorphisms and CTEV susceptibility. The rs3801776 (G>A) and rs2025126 (G>A) polymorphisms were genotyped using TaqMan. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated to measure the associations between the selected polymorphisms and CTEV susceptibility. RESULTS: We found that rs3801776A was associated with increased CTEV risk (GA versus GG: adjusted OR = 1.81, 95% CI = 1.22-2.69, p = 0.0031; AA versus GG: adjusted OR = 2.19, 95% CI = 1.28-3.73, p = 0.0041; GA/AA versus GG: adjusted OR = 1.89, 95% CI = 1.29-2.76, p = 0.0010). In a stratified analysis, the risk effect of rs3801776 GA/AA was observed in both unilateral and bilateral patients. CONCLUSIONS: The present study suggests that the rs3801776 G>A polymorphism is associated with CTEV risk in Chinese children; however, this conclusion should be validated in larger studies.