Matrix Metalloproteinase Genes () on Chromosome 11q22 and the Risk of Non-Contact Anterior Cruciate Ligament Ruptures.

BACKGROUND

Sequence variants within the matrix metalloproteinases genes remain plausible biological candidates for further investigation of anterior cruciate ligament (ACL) rupture risk. The aim of the present study was to establish whether variants within the (rs1799750, ->G), (rs486055, C > T) and (rs2276109, T > C) genes were associated with non-contact ACL rupture in a Polish cohort.

METHODS

The unrelated, self-reported Polish Caucasian participants consisted of 228 (157 male) individuals with primary non-contact ACL rupture and 202 (117 male) participants without any history of ACL rupture. All samples were genotyped in duplicate using the Applied Biosystems TaqMan methodology. The statistical analyses were involved in determining the distribution of genotype and allele frequencies for the investigated polymorphisms between the diagnostic groups. Furthermore, pseudo-haplotypes were constructed to assess possible gene-gene interactions.

RESULTS

All genotype frequencies in the ACL rupture and control groups conformed to Hardy Weinberg Equilibrium expectations. None of the polymorphisms were associated with risk of non-contact ACL rupture under the codominant, dominant, recessive and over-dominant genetic models. Likewise, no genotype-genotype combinations inferred as "haplotypes" as a proxy of gene-gene interactions were associated with the risk of non-contact ACL ruptures.

CONCLUSIONS

Despite the fact that the current study did not support existing evidence suggesting that variants within the , , and genes influence non-contact ACL rupture risk, future work should include high-throughput sequencing technologies to identify potential targeted polymorphisms to fully characterize the 11q22 region with susceptibility to non-contact ACL rupture susceptibility in a Polish cohort.