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Updated: Jun 24, 2025

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A thorough analysis of data on the correlation between COL9A1 polymorphisms and the susceptibility to congenital

Mohammad Golshan-Tafti1, Seyed Alireza Dastgheib2, Kamran Alijanpour3

  • 1Department of Pediatrics, Islamic Azad University of Yazd, Yazd, Iran.

Journal of Orthopaedic Surgery and Research
|June 10, 2024
PubMed

Insights

Genetic variations in the COL9A1 gene, specifically rs1135056 and rs35470562, are linked to congenital talipes equinovarus (CTEV) susceptibility. The rs592121 variant showed no such association in this meta-analysis.

Area of Science:

  • Genetics
  • Orthopedics
  • Pediatrics

Background:

  • Congenital talipes equinovarus (CTEV) is a common pediatric foot deformity with complex causes.
  • Investigating genetic factors is crucial for understanding CTEV etiology.

Purpose of the Study:

  • To conduct a meta-analysis examining the association between COL9A1 gene polymorphisms and CTEV susceptibility.
  • To identify specific genetic variants that may influence the risk of developing CTEV.

Main Methods:

  • A systematic literature review and meta-analysis of case-control studies published before November 15, 2023.
  • Odds ratios (ORs) with 95% confidence intervals (CIs) were calculated to assess the strength of association.
  • Random or fixed-effects models were used based on study heterogeneity, with analysis performed using Comprehensive Meta-Analysis software.

Main Results:

  • Eight case-control studies comprising 833 CTEV patients and 1280 controls were analyzed.
  • Significant associations were found between CTEV susceptibility and COL9A1 variants rs1135056 and rs35470562.
  • No significant association was observed for the COL9A1 rs592121 variant.

Conclusions:

  • The COL9A1 gene variants rs1135056 and rs35470562 are associated with an increased risk of CTEV.
  • The COL9A1 rs592121 variant does not appear to be linked to CTEV susceptibility.
  • Limitations include a small study population, which may affect the statistical reliability and generalizability of findings.
Abstract

Keywords:
COL9A1CTEVCongenital clubfootFoot deformitiesPolymorphismTalipes equinovarus

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