Matrix metalloproteinase genes on chromosome 11q22 and risk of carpal tunnel syndrome

Involvement of tendons and/or connective tissue structures in the aetiology of idiopathic carpal tunnel syndrome (CTS) has been proposed. DNA sequence variants within genes encoding structural components of the collagen fibril, the basic structural unit of connective tissue, have been shown to associate with modulating CTS risk. The matrix metalloproteinases (MMPs) play an important role in connective tissue remodelling. Variants within the MMP10, MMP1, MMP3 and MMP12 gene cluster on chromosome 11q22 have been associated with connective tissue injuries. The aim of this study was to investigate whether variants within these MMP genes are associated with CTS. Ninety-seven, self-reported Coloured participants with a history of CTS release surgery and 131 appropriately matched controls were genotyped for MMP10 rs486055 (C/T), MMP1 rs1799750 (G/GG), MMP3 rs679620 (A/G) or MMP12 rs2276109 (A/G) variants. A Pearson’s Chi-squared test or a Fisher’s exact test was used to determine any significant differences between the genotype distributions or any other categorical data of the groups. An analysis of variance (ANOVA) was used to detect any significant differences between CTS and control groups for continuous data. There were no independent associations between any of the investigated MMP variants and CTS. There were also no significant differences in the relative distributions of the constructed MMP inferred haplotypes between CTS and CON groups. The MMP variants previously associated with other connective tissue injuries were not associated with CTS in this population. These findings do not exclude the possibility that other variants within this locus or other MMP genes are associated with CTS.