Application of anin silicoapproach identifies a genetic locus withinITGB2,and itsinteractions withHSPG2 and FGF9,to be associated with anterior cruciateligament rupture risk

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dc.contributor.authorDlamini, Senanile B.
dc.contributor.authorSaunders, Colleen J.
dc.contributor.authorGamieldien, Junaid
dc.date.accessioned2023-03-30T07:50:46Z
dc.date.available2023-03-30T07:50:46Z
dc.date.issued2023
dc.description.abstractWe developed a Biomedical Knowledge Graph model that is phenotype and biological function-aware through integrating knowledge from multiple domains in a Neo4j, graph database. Allknown human genes were assessed through the model to identify potential new risk genes foranterior cruciate ligament (ACL) ruptures and Achilles tendinopathy (AT). Genes were prioritisedand explored in a case–control study comparing participants with ACL ruptures (ACL-R),including a sub-group with non-contact mechanism injuries (ACL-NON), to uninjured controlindividuals (CON). After genefiltering, 3376 genes, including 411 genes identified throughprevious whole exome sequencing, were found to be potentially linked to AT and ACL ruptures.Four variants were prioritised:HSPG2:rs2291826A/G,HSPG2:rs2291827G/A,ITGB2:rs2230528C/TandFGF9:rs2274296C/T. The rs2230528 CC genotype was over-represented in the CON groupcompared to ACL-R (p< 0.001) and ACL-NON (p< 0.001) and the TT genotype and T allele wereover-represented in the ACL-R group and ACL-NON compared to CON (p< 0.001) group. Severalsignificant differences in distributions were noted for the gene-gene interactions: (HSPG2:rs2291826, rs2291827 andITGB2:rs2230528) and (ITGB2:rs2230528 andFGF9:rs2297429).en_US
dc.identifier.citationDlamini, S. B. et al. (2023). Application of anin silicoapproach identifies a genetic locus withinITGB2,and itsinteractions withHSPG2 and FGF9,to be associated with anterior cruciateligament rupture risk. European Journal of Sport Science. https://doi.org/10.1080/17461391.2023.2171906en_US
dc.identifier.issn1536-7290
dc.identifier.urihttps://doi.org/10.1080/17461391.2023.2171906
dc.identifier.urihttp://hdl.handle.net/10566/8707
dc.language.isoenen_US
dc.publisherTaylor and Francis Groupen_US
dc.subjectBiomedicalen_US
dc.subjectBioinformaticsen_US
dc.subjectBiologyen_US
dc.subjectSemantic modellingen_US
dc.subjectAnterior cruciate ligamenten_US
dc.titleApplication of anin silicoapproach identifies a genetic locus withinITGB2,and itsinteractions withHSPG2 and FGF9,to be associated with anterior cruciateligament rupture risken_US
dc.typeArticleen_US

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