Department of Paediatric Orthopaedics, Guangzhou Women and Children's Medical Centre, Guangzhou Medical University, Guangzhou, China.
Department of Pediatric Orthopedics, Hunan Children's Hospital, Changsha, China.
Genet Test Mol Biomarkers. 2021 May;25(5):355-360. doi: 10.1089/gtmb.2020.0248. Epub 2021 May 4.
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 () were associated with ICTEV in Caucasian children. However, there are no studies investigating the correlations of gene polymorphisms with the risk of ICTEV in Chinese children. We conducted a case-control study, including 430 children with ICTEV and 891 ICTEV-free children. We explored the potential correlations of three gene polymorphisms (/rs4075583 G>A, tropomyosin gene 2 ()/rs2145925 C>T, and /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. 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, = 0.007; and GG/GA vs. AA: adjusted OR = 1.62, 95% CI = 1.14-2.31, = 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, = 0.014) in the stratified analysis. However, there were no significant differences in the risk for ICTEV associated with the rs2145925 and rs2025126 polymorphisms. These results indicate that the 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.
特发性先天性马蹄内翻足（ICTEV）是儿童最常见的先天性畸形之一，横纹肌发育不良可能是 ICTEV 的原因之一。先前的研究表明，原肌球蛋白基因 1 中的 rs4075583 SNP 多态性与白种人儿童的 ICTEV 有关。然而，目前还没有研究探讨基因多态性与中国儿童 ICTEV 风险的相关性。
我们进行了一项病例对照研究，包括 430 名 ICTEV 患儿和 891 名 ICTEV 无患儿。我们探讨了三个原肌球蛋白基因（/rs4075583 G>A、原肌球蛋白基因 2 ()/rs2145925 C>T 和 /rs2025126 G>A）多态性与 ICTEV 风险的潜在相关性。采用 TaqMan 法检测三个单核苷酸多态性（SNP）。我们计算了比值比（OR）和调整后的 OR 及其 95%置信区间（CI），以探讨这些选定的 SNP 多态性与 ICTEV 之间的关系。
发现 rs4075583A 与 ICTEV 风险增加相关（AA 与 GG：调整后的 OR=1.70，95%CI=1.15-2.49，=0.007；GG/GA 与 AA：调整后的 OR=1.62，95%CI=1.14-2.31，=0.0071），调整了年龄和性别因素。此外，在分层分析中，对于受影响的右脚患者，rs4075583GA/AA 与 ICETV 相关的风险效应观察到（调整后的 OR=1.62，95%CI=1.10-2.39，=0.014）。然而，rs2145925 和 rs2025126 多态性与 ICTEV 的风险无显著差异。
这些结果表明，在中国南方人群中，原肌球蛋白基因 1 的 rs4075583G>A 多态性与 ICTEV 风险相关；然而，这一发现需要在更大的研究中并通过机制研究来证实。
