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

  • Original Article - Genes and Disease
  • Published:
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Abstract

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.

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Acknowledgments

The authors would like to thank Dr. Ajmal Ikram, Dr. Adriaan Smit and Dr. David Rodseth, as well as the nurses from the various clinics, for their help in participant identification. This study was supported in part by funds from the National Research Foundation (NRF) of South Africa, University of Cape Town, and the South African Medical Research Council. The grant holder acknowledges that opinions, findings and conclusions or recommendations expressed in any publication generated by the NRF supported research are that of the author(s) and that the NRF accepts no liability whatsoever in this regard. Author M.C. and A/Prof Alison September have filed patents on the application of specific sequence variations, which include those in this manuscript, related to risk assessment of Achilles tendon and anterior cruciate ligament injuries.

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Authors and Affiliations

  1. Division of Exercise Science and Sports Medicine, Department of Human Biology, University of Cape Town, PO Box 115, Newlands, 7725, South Africa

    Marilize C. Burger & Malcolm Collins

  2. Life Occupational Health, Western Cape, South Africa

    Hanli De Wet

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  1. Marilize C. Burger
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  2. Hanli De Wet
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  3. Malcolm Collins
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Correspondence to Malcolm Collins.

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Burger, M.C., De Wet, H. & Collins, M. Matrix metalloproteinase genes on chromosome 11q22 and risk of carpal tunnel syndrome. Rheumatol Int 36, 413–419 (2016). https://doi.org/10.1007/s00296-015-3385-z

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