Abstract
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.
Highlights
Carpal tunnel syndrome (CTS) is the most common compression neuropathy in the upper limbs
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 carpal tunnel syndrome (CTS)
Previous studies have found that variants within the genes encoding for synthesis of collagen types I, V, XI, and XII may be implicated in their potential role in various musculoskeletal soft tissue disorders
Summary
Carpal tunnel syndrome (CTS) is the most common compression neuropathy in the upper limbs. Among numerous concepts on pathogenesis of CTS, the possible involvement of tendons and/or other connective tissue structures within the carpal tunnel structure has been proposed.[2–4]. Considering the proximity of the 9 flexor tendons and the thick flexor retinaculum to the median nerve within the limited space of the carpal tunnel, it is not unlikely that pathology of these tendons or the retinaculum may contribute to CTS pathology. This concerns possible genetic factors which may influence the characteristics and regulation of collagen fibrils, which are the basic ingredient of connective tissue structures such as tendons, ligaments and bones
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