The role of genetic factors in carpal tunnel syndrome etiology: A review

Adv Clin Exp Med. 2020 May;29(5):623-628. doi: 10.17219/acem/118846.


The direct causes of idiopathic carpal tunnel syndrome (CTS) still remain obscure. It has been suggested that the pathology of tendons and other connective tissue structures within the carpal tunnel may be involved in its etiology. The objective of this study was to review the literature about the potential role of genetic factors in the etiology of CTS. Three different mechanisms are suspected to be involved in genetic predisposition to CTS: collagen synthesis, collagen degradation and protection against oxidative stress effect in connective tissue. Several gene groups are involved in the regulation and modulation of these mechanisms, and the research reviewed in this study showed their possible effect on the development of CTS. Variants within the COL1A1, COL5A1 and COL11A1 genes - encoding the synthesis of minor collagen subtypes - may potentially be involved, as they alter the mechanical properties of tendons and other connective tissue structures within the carpal tunnel. The collagen within connective tissue structures is also remodeled by matrix metalloproteinases (MMPs), so variants of these genes have also been investigated for their possible role in the risk of CTS development. Next, the variants of genes encoding glutathione S-transferase (GST) synthesis were found to be involved in the etiology of CTS. The findings from the abovementioned studies provide reliable information on the potential role of genetic risk factors in the development of CTS.

Keywords: carpal tunnel syndrome etiology; collagen synthesis; gene variants; genetic factors.

Publication types

  • Review

MeSH terms

  • Carpal Tunnel Syndrome / etiology*
  • Carpal Tunnel Syndrome / genetics*
  • Collagen / genetics*
  • Connective Tissue
  • Genetic Predisposition to Disease
  • Glutathione Transferase / genetics*
  • Humans
  • Polymorphism, Genetic


  • Collagen
  • Glutathione Transferase