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HOXA9 rs3801776 G>A polymorphism increases congenital talipes equinovarus risk in a Chinese population
Author(s) -
Li Jingchun,
Wu Jianping,
Liu Yanhan,
Li Yiqiang,
Xiao Zhilan,
Jiang Xiaoling,
Tang Yaping,
Xu Hongwen
Publication year - 2019
Publication title -
the journal of gene medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.689
H-Index - 91
eISSN - 1521-2254
pISSN - 1099-498X
DOI - 10.1002/jgm.3119
Subject(s) - medicine , odds ratio , congenital talipes equinovarus , confidence interval , pediatrics , deformity , surgery , clubfoot
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.