Matrix metalloproteinase genes on chromosome 11q22 and the risk of anterior cruciate ligament (ACL) rupture

M Posthumus, M Collins, L van der Merwe, D O'Cuinneagain, W van der Merwe, W J Ribbans, M P Schwellnus, S M Raleigh

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Abstract

As matrix metalloproteinases (MMPs) are critical to ligament homeostasis and integrity, the aim of this study was to investigate whether four functional polymorphisms within four MMP genes, which cluster on chromosome 11q22 associate with risk of ACL ruptures. Three hundred and forty-five [129 with ACL ruptures (ACL group) and 216 asymptomatic controls (CON group)] unrelated Caucasians were recruited for this case-control study. Fifty-four participants reported non-contact mechanisms of ACL rupture (NON subgroup). All participants were genotyped for the MMP10 C/T rs486055, MMP1 1G/2G rs1799750, MMP3 G/A rs679620 and MMP12 A/G rs2276109 variants. After adjusting for sex, age and weight, the AG and GG genotypes of the MMP12 rs2276109 variant were significantly (P=0.030) under-represented among the NON subgroup (14%), when compared with the CON group (26%). No other variants were significantly different between groups. Adjusted for the same confounders, the two four-variant haplotypes T-1G-A-A (CON 14%, ACL 9%, P=0.033) and C-2G-G-G (CON 14%, NON 5%, P=0.021) were significantly different between the CON and the ACL groups, and the CON group and the NON subgroup, respectively. This is the first report that indicates an association between the chromosomal region 11q22 and the risk of ACL rupture.

Original languageEnglish
Pages (from-to)523-533
Number of pages11
JournalScandinavian Journal of Medicine & Science in Sports
Volume22
Issue number4
DOIs
Publication statusPublished - Aug 2012

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Anterior Cruciate Ligament
Matrix Metalloproteinases
Rupture
Chromosomes
Genes
Multigene Family
Ligaments
Haplotypes
Case-Control Studies
Homeostasis
Genotype
Weights and Measures
Control Groups

Keywords

  • Adolescent
  • Adult
  • Anterior Cruciate Ligament Injuries
  • Case-Control Studies
  • Chromosomes, Human, Pair 11
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Knee Injuries
  • Male
  • Matrix Metalloproteinase 1
  • Matrix Metalloproteinase 10
  • Matrix Metalloproteinase 12
  • Matrix Metalloproteinase 3
  • Matrix Metalloproteinases
  • Polymorphism, Single Nucleotide
  • Rupture
  • Young Adult
  • Journal Article
  • Research Support, Non-U.S. Gov't

Cite this

Matrix metalloproteinase genes on chromosome 11q22 and the risk of anterior cruciate ligament (ACL) rupture. / Posthumus, M; Collins, M; van der Merwe, L; O'Cuinneagain, D; van der Merwe, W; Ribbans, W J; Schwellnus, M P; Raleigh, S M.

In: Scandinavian Journal of Medicine & Science in Sports, Vol. 22, No. 4, 08.2012, p. 523-533.

Research output: Contribution to journalArticle

Posthumus, M, Collins, M, van der Merwe, L, O'Cuinneagain, D, van der Merwe, W, Ribbans, WJ, Schwellnus, MP & Raleigh, SM 2012, 'Matrix metalloproteinase genes on chromosome 11q22 and the risk of anterior cruciate ligament (ACL) rupture' Scandinavian Journal of Medicine & Science in Sports, vol. 22, no. 4, pp. 523-533. https://doi.org/10.1111/j.1600-0838.2010.01270.x
Posthumus, M ; Collins, M ; van der Merwe, L ; O'Cuinneagain, D ; van der Merwe, W ; Ribbans, W J ; Schwellnus, M P ; Raleigh, S M. / Matrix metalloproteinase genes on chromosome 11q22 and the risk of anterior cruciate ligament (ACL) rupture. In: Scandinavian Journal of Medicine & Science in Sports. 2012 ; Vol. 22, No. 4. pp. 523-533.
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