PDF(Pubmed)
Abstract：
BACKGROUND: Congenital talipes equinovarus (CTEV) is a prevalent pediatric deformity with a multifactorial etiology. The objective of this meta-analysis was to explore the association between genetic variations in COL9A1 and the susceptibility to CTEV.
METHODS: A comprehensive analysis of pertinent literature released before November 15, 2023, in electronic bibliographic databases was carried out. The importance of the connection was clarified through odds ratios (ORs) with 95% confidence intervals (CIs), utilizing random or fixed-effects models depending on study heterogeneity. Statistical analysis was executed using Comprehensive Meta-Analysis software (Version 4.0).
RESULTS: A total of eight case-control studies involving 833 CTEV patients and 1280 healthy individuals were included in the analysis. Among these, four studies investigated the rs1135056 variant, encompassing 432 CTEV cases and 603 controls; two studies examined the rs35470562 variant, with 189 CTEV cases and 378 controls; and two studies explored the rs592121 variant, including 212 CTEV cases and 299 controls. The results revealed a significant association between the rs1135056 and rs35470562 polymorphisms in the COL9A1 gene, suggesting an increased risk of CTEV in the overall population. Conversely, no such association was found for the rs592121 variant.
CONCLUSIONS: Our findings reveal a substantial association between the genetic variants COL9A1 rs1135056 and rs35470562 and susceptibility to CTEV. Conversely, the variant rs592121 did not exhibit any corresponding link. However, the limitations imposed by the small study population have compromised the statistical reliability and generalizability of the results.
METHODS: A comprehensive analysis of pertinent literature released before November 15, 2023, in electronic bibliographic databases was carried out. The importance of the connection was clarified through odds ratios (ORs) with 95% confidence intervals (CIs), utilizing random or fixed-effects models depending on study heterogeneity. Statistical analysis was executed using Comprehensive Meta-Analysis software (Version 4.0).
RESULTS: A total of eight case-control studies involving 833 CTEV patients and 1280 healthy individuals were included in the analysis. Among these, four studies investigated the rs1135056 variant, encompassing 432 CTEV cases and 603 controls; two studies examined the rs35470562 variant, with 189 CTEV cases and 378 controls; and two studies explored the rs592121 variant, including 212 CTEV cases and 299 controls. The results revealed a significant association between the rs1135056 and rs35470562 polymorphisms in the COL9A1 gene, suggesting an increased risk of CTEV in the overall population. Conversely, no such association was found for the rs592121 variant.
CONCLUSIONS: Our findings reveal a substantial association between the genetic variants COL9A1 rs1135056 and rs35470562 and susceptibility to CTEV. Conversely, the variant rs592121 did not exhibit any corresponding link. However, the limitations imposed by the small study population have compromised the statistical reliability and generalizability of the results.
摘要：
背景：先天性马蹄内翻足（CTEV）是一种常见的儿科畸形，具有多因素病因。这项荟萃分析的目的是探讨COL9A1基因变异与CTEV易感性之间的关系。
方法：对电子书目数据库中2023年11月15日之前发布的相关文献进行了全面分析。通过具有95%置信区间(CI)的优势比(OR)阐明了联系的重要性，根据研究异质性，利用随机或固定效应模型。使用综合Meta分析软件(4.0版)进行统计学分析。
结果：共有8项病例对照研究纳入分析，涉及833名CTEV患者和1280名健康个体。其中,四项研究调查了rs1135056变体，包括432例CTEV病例和603例对照；两项研究检查了rs35470562变体，189例CTEV病例和378例对照；两项研究探索了rs592121变异，包括212例CTEV病例和299例对照。结果揭示了COL9A1基因中rs1135056和rs35470562多态性之间的显著关联,提示总体人群中CTEV的风险增加。相反，rs592121变异体未发现这种关联.
结论：我们的发现揭示了基因变异COL9A1rs1135056和rs35470562与CTEV易感性之间的实质性关联。相反，变体rs592121没有表现出任何相应的链接。然而,研究人群较少造成的局限性影响了结果的统计可靠性和概括性.
方法：对电子书目数据库中2023年11月15日之前发布的相关文献进行了全面分析。通过具有95%置信区间(CI)的优势比(OR)阐明了联系的重要性，根据研究异质性，利用随机或固定效应模型。使用综合Meta分析软件(4.0版)进行统计学分析。
结果：共有8项病例对照研究纳入分析，涉及833名CTEV患者和1280名健康个体。其中,四项研究调查了rs1135056变体，包括432例CTEV病例和603例对照；两项研究检查了rs35470562变体，189例CTEV病例和378例对照；两项研究探索了rs592121变异，包括212例CTEV病例和299例对照。结果揭示了COL9A1基因中rs1135056和rs35470562多态性之间的显著关联,提示总体人群中CTEV的风险增加。相反，rs592121变异体未发现这种关联.
结论：我们的发现揭示了基因变异COL9A1rs1135056和rs35470562与CTEV易感性之间的实质性关联。相反，变体rs592121没有表现出任何相应的链接。然而,研究人群较少造成的局限性影响了结果的统计可靠性和概括性.
