Are genes encoding proteoglycans really associated with the risk of anterior cruciate ligament rupture?
| Autor: | Kyle Willard, Ewelina Maculewicz, Alison V. September, Krzysztof Ficek, Piotr Gronek, Piotr Zmijewski, Joanna Gronek, Ewelina Lulińska-Kuklik, Paweł Cięszczyk, Miroslav Petr, Magdalena Weber-Rajek, E Kemeryte-Riaubiene, Grzegorz Trybek, Petr Stastny |
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| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Vascular Endothelial Growth Factor A medicine.medical_specialty Anterior cruciate ligament Population Physical Therapy Sports Therapy and Rehabilitation 030105 genetics & heredity Biology 03 medical and health sciences 0302 clinical medicine Physiology (medical) Internal medicine Genotype Biglycan medicine Orthopedics and Sports Medicine Allele Anterior Cruciate Ligament lcsh:Sports medicine education Genetic Association Study lcsh:QH301-705.5 Genetic association education.field_of_study Original Paper Haplotype 030229 sport sciences Endocrinology medicine.anatomical_structure Haplotypes lcsh:Biology (General) Ligament Proteoglycans Decorin lcsh:RC1200-1245 Aggrecan |
| Zdroj: | Biology of Sport, Vol 34, Iss 2, Pp 97-103 (2017) Biology of Sport |
| ISSN: | 2083-1862 |
| Popis: | Proteoglycans are considered integral structural components of tendon and ligament and have been implicated in the resistance of compressive forces, collagen fibrillogenesis, matrix remodelling and cell signalling. Several sequence variants within genes encoding proteoglycans were recently implicated in modulating anterior cruciate ligament ruptures (ACLR). This study aimed to test the previously implicated variants in proteoglycan and vascular epithelial growth factor encoding genes with risk of ACLR in a population from Poland. A case control genetic association study was conducted using DNA samples from 143 healthy participants without a history of ACL injuries (99 male and 44 females) (CON group) and 229 surgically diagnosed ACLR participants (158 males and 71 females). All samples were genotyped for the ACAN: rs1516797, BGN: rs1042103, rs1126499, DCN: rs516115 and VEGFA: rs699947 variants. Main findings included the (i) ACAN rs1516797 G/T genotype which was underrepresented in the CON group (CON: 36%, n=52, ACLR: 49%, n=112, p=0.017, OR=1.68, 95% CI 1.09 to 2.57) when all participants were investigated and (ii) the BGN rs1042103 A allele was significantly under-represented in the male CON group compared to the male ACLR group (CON: 39%, n=78, ACLR: 49%, n=156, p=0.029, OR=1.5, 95% CI 1.05 to 2.15). Furthermore, BGN inferred haplotypes were highlighted with altered ACLR susceptibility. Although the study implicated the ACAN and BGN genes (combination of genotype, allele and haplotype) in modulating ACLR susceptibility, several differences were noted with previous published findings. |
| Databáze: | OpenAIRE |
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