Li Jingchun, Kang Xiaopeng, Zhu Guanghui, Zhao Zhanbo, Chen Shunyou, Guo Yueming, Shen Xiantao, Shao Jingfan, Jiang Fei, Li Jin, Nan Guoxin, Xu Hongwen, Xia Huimin
Department of Pediatric Orthopedics, Guangzhou Women and Children's Medical Centre, Guangzhou Medical University, Guangzhou, China.
The Second School of Clinical Medicine, Southern Medical University, Guangzhou, China.
Genet Test Mol Biomarkers. 2024 Dec;28(12):461-466. doi: 10.1089/gtmb.2023.0477. Epub 2024 Dec 9.
Idiopathic clubfoot (IC) can be corrected initially using the Ponseti method, but still there is a high recurrence rate. The etiology of IC may include many undetermined genetic and environmental factors. Single nucleotide polymorphism of rs274503 in has been found to be associated with IC in Caucasian children. Therefore, we decided to investigate the association between this polymorphism and the risk of IC in the Chinese population. We conducted an 11-center case-control study of 516 patients with IC and 661 IC-free children. The rs274503 (A>G) polymorphism was genotyped using TaqMan. Odds ratios (ORs) and adjusted ORs, as well as 95% confidence intervals (CIs) and adjusted 95% CIs, were calculated to explore the association between rs274503 polymorphism and IC risk. G of rs274503 was found to be associated with increased IC risk (AG vs. AA: adjusted OR = 1.40, 95% CI = 1.03-1.92, = 0.0327; and GG/AG vs. AA: adjusted OR = 1.38, 95% CI = 1.02-1.87, = 0.0357) after adjusting for age and sex. Furthermore, the risk effect of rs274503 GG/AG with IC was observed in patients with bilateral feet (adjusted OR = 1.68, 95% CI = 1.12-2.54, = 0.0133), while AA in nonrelapsed groups (OR = 0.70, 95% CI = 0.53-0.92, = 0.0095) in the stratified analysis. However, the association was not significant in the recessive model of G (GG vs. AA/AG: adjusted OR = 1.06, 95% CI = 0.44-2.58, = 0.8906). The rs274503 polymorphism is associated with the risk of clubfoot occurrence. G of rs274503 appeared to be a risk factor of IC as it may increase the bilateral case rate. However, further studies are required to confirm these findings.
特发性马蹄内翻足（IC）最初可采用庞塞蒂方法进行矫正，但复发率仍然很高。IC的病因可能包括许多未确定的遗传和环境因素。已发现高加索儿童中rs274503的单核苷酸多态性与IC有关。因此，我们决定研究这种多态性与中国人群中IC风险之间的关联。我们对516例IC患者和661例无IC儿童进行了一项11中心的病例对照研究。使用TaqMan对rs274503（A>G）多态性进行基因分型。计算比值比（OR）和调整后的OR，以及95%置信区间（CI）和调整后的95%CI，以探讨rs274503多态性与IC风险之间的关联。在调整年龄和性别后，发现rs274503的G与IC风险增加相关（AG与AA：调整后的OR = 1.40，95%CI = 1.03 - 1.92，P = 0.0327；GG/AG与AA：调整后的OR = 1.38，95%CI = 1.02 - 1.87，P = 0.0357）。此外，在双侧足部患者中观察到rs274503 GG/AG对IC的风险效应（调整后的OR = 1.68，95%CI = 1.12 - 2.54，P = 0.0133），而在分层分析中，非复发组中的AA（OR = 0.70，95%CI = 0.53 - 0.92，P = 0.0095）。然而，在G的隐性模型中，该关联不显著（GG与AA/AG：调整后的OR = 1.06，95%CI = 0.44 - 2.58，P = 0.8906）。rs274503多态性与马蹄内翻足发生风险相关。rs274503的G似乎是IC的一个风险因素，因为它可能增加双侧病例率。然而，需要进一步研究来证实这些发现。
