Matrix metalloproteinase genes (MMP1, MMP10, MMP12) 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 MMP1 (rs1799750, ->G), MMP10 (rs486055, C > T) and MMP12 (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 MMP1MMP10, and MMP12 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.

Matrix metalloproteinase genes (MMP1, MMP10, MMP12) on chromosome 11q22 and the risk of non-contact anterior cruciate ligament ruptures
Lulińska Ewelina
Słowa kluczowe
ACL rupture; MMP; gene polymorphism; metalloproteinase; uszkodzenie ACL; polimorfizm genetyczny; metaloproteinazy
Gibbon Andrea; Kaczmarczyk Mariusz; Maciejewska-Skrendo Agnieszka ORCID: 0000-0003-4587-2411; Ficek Krzysztof; Leońska-Duniec Agata; Wilk Michał; Leźnicka Katarzyna; Michałowska-Sawczyn Monika; Humińska-Lisowska Kinga; Buryta Rafał ORCID: 0000-0002-8368-4852; Cięszczyk Paweł; Maculewicz Ewelina; Czarny Wojciech; September Alison V; Sawczuk Marek ORCID: 0000-0002-5730-5249
Typ zasobu
Identyfikator zasobu
DOI: 10.3390/genes11070766
Genes, 2020, vol. 11 iss. 7, [br. s.], 766
Prawa autorskie
Publikacje pracowników US
Data udostępnienia28 lip 2021, 14:57:42
Data mod.28 lip 2021, 14:57:42
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