Impact of the COL1A1 (RS1107946) gene polymorphism on anterior cruciate ligament rupture in professional soccer players

Abstract

Objectives To describe the allelic frequency of rs1107946, belonging to the COL1A1 gene in professional soccer players and compare these findings with data from continental populations described in the 1000 Genomes database, in order to evaluate the frequency of genotypes highly associated with genetic susceptibility to anterior cruciate ligament (ACL) injuries in the literature. Methods The DNA of the 38 professional soccer players was collected from oral mucosa samples. DNA extraction was performed using the PureLinkTMGenomicDNAMini Kit, according to the manufacturer's protocol. For genotyping and allelic discrimination of the selected SNP (rs1107946), real-time PCR was used with TaqMan® SNP GenotypingAssay specific probes (AppliedBiosystems, Foster City, CA, USA) on the QuantStudio 6 Flex Realtime PCR system. The MMA was consistently identified in all specimens. In 26 of 33 (82%) specimens, the MMA branched directly from the popliteal artery, while in 6, the MMA shared a common trunk with the inferior medial genicular artery (IMGA). The MMA was easily distinguishable from the superior MGA, inferior MGA, and MGA, given its direct course to the medial joint line with terminal branches to the posterior horn of the medial meniscus and deep to the semimembranosus tendon. The MMA exhibited a smaller vessel diameter relative to the genicular arteries. Results Our findings demonstrated that the frequency of the wild-type allele C was 65%, while the frequency of the mutant allele A was 45%, highlighting that despite the wild-type allele, which confers protection against the risk of ACL injury, is predominantly distributed in the sample, the mutant allele is significantly present in the individuals investigated. When comparing our findings with data from continental populations described in 1000 Genomes, we found statistically significant allelic and genotypic distributions (Student's T Test p = 0.021), demonstrating that the athletes investigated have a different genetic profile. In our findings, the individuals studied presented a statistically significant allelic frequency of the mutation when compared to the European population, inferring that the frequency of this mutation is higher in European individuals than in mixed-race individuals from Brazil. Conclusion The prevalence of the rs1107946 polymorphism of the COL1A1 gene in athletes may have an important role in the development of ACL injuries.