Matrix Metalloproteinase Genes (MMP1, MMP10, MMP12) on Chromosome 11q22 and the Risk of Non-Contact Anterior Cruciate Ligament Ruptures
| Autor: | Kinga Humińska-Lisowska, Marek Sawczuk, Ewelina Maculewicz, Paweł Cięszczyk, Agata Leońska-Duniec, Monika Michałowska-Sawczyn, Michal Wilk, Ewelina Lulińska, Wojciech Czarny, Mariusz Kaczmarczyk, Krzysztof Ficek, Rafał Buryta, Andrea Gibbon, Alison V. September, Agnieszka Maciejewska-Skrendo, Katarzyna Leźnicka |
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| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
lcsh:QH426-470 gene polymorphism Anterior cruciate ligament Biology 03 medical and health sciences 0302 clinical medicine Genetic model Genotype Genetics medicine Allele frequency Genetics (clinical) MMP Haplotype ACL rupture 030229 sport sciences musculoskeletal system Hardy–Weinberg principle Genotype frequency lcsh:Genetics 030104 developmental biology medicine.anatomical_structure Gene polymorphism metalloproteinase |
| Zdroj: | Genes Volume 11 Issue 7 Genes, Vol 11, Iss 766, p 766 (2020) |
| ISSN: | 2073-4425 |
| DOI: | 10.3390/genes11070766 |
| Popis: | 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&ndash 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&ndash genotype combinations inferred as &ldquo haplotypes&rdquo as a proxy of gene&ndash 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 MMP1, MMP10, 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 |
| Databáze: | OpenAIRE |
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