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Interactions between Gene Variants within the COL1A1 and COL5A1 Genes and Musculoskeletal Injuries in Physically Active Caucasian.

ABSTRACT: The COL1A1 and COL5A1 variants have been associated with the risk of musculoskeletal injuries. Therefore, the main aim of the study was to investigate the association between three polymorphisms within two genes (rs1800012 in COL1A1, as well as rs12722 and rs13946 in COL5A1) and the reported, yet rarely described in the literature, injuries of the joint and muscle area in a physically active Caucasian population. Polish students (n = 114) were recruited and divided into the following two groups: students with (n = 53) and without (n = 61) injures. Genotyping was carried out using real-time PCR. The results obtained revealed a statistically significant association between rs1800012 COL1A1 and injury under an overdominant model. Specifically, when adjusted for age and sex, the GT heterozygotes had a 2.2 times higher chance of being injured compared with both homozygotes (TT and GG, 95% CI 0.59-5.07, p = 0.040). However, no significant interaction between the COL5A1 variants, either individually or in haplotype combination, and susceptibility to injury were found. In addition, the gene-gene interaction analysis did not reveal important relationships with the musculoskeletal injury status. It was demonstrated that rs1800012 COL1A1 may be positively associated with physical activity-related injuries in a Caucasian population. Harboring the specific GT genotype may be linked to a higher risk of being injured.

SUBMITTER: Leznicka K

PROVIDER: S-EPMC8307722 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:IntroductionAustralian Football is a dynamic team sport that requires many athletic traits to succeed. Due to this combination of traits, as well as technical skill and physicality, there are many types of injuries that could occur. Injuries are not only a hindrance to the individual player, but to the team as a whole. Many strength and conditioning personnel strive to minimise injuries to players to accomplish team success.PurposeTo investigate whether selected polymorphisms have an association with injury occurrence in elite male Australian Football players.MethodsUsing DNA obtained from 46 elite male players, we investigated the associations of injury-related polymorphisms across multiple genes (ACTN3, CCL2, COL1A1, COL5A1, COL12A1, EMILIN1, IGF2, NOGGIN, SMAD6) with injury incidence, severity, type (contact and non-contact), and tissue (muscle, bone, tendon, ligament) over 7 years in one Australian Football League team.ResultsA significant association was observed between the rs1372857 variant in NOGGIN (p = 0.023) and the number of total muscle injuries, with carriers of the GG genotype having a higher estimated number of injuries, and moderate, or combined moderate and high severity rated total muscle injuries. The COL5A1 rs12722TT genotype also had a significant association (p = 0.028) with the number of total muscle injuries. The COL5A1 variant also had a significant association with contact bone injuries (p = 0.030), with a significant association being found with moderate rated injuries. The IGF2 rs3213221-CC variant was significantly associated with a higher estimated number of contact tendon injuries per game (p = 0.028), while a higher estimated number of total ligament (p = 0.019) and non-contact ligament (p = 0.002) injuries per game were significantly associated with carriage of the COL1A1 rs1800012-TT genotype.ConclusionsOur preliminary study is the first to examine associations between genetic variants and injury in Australian Football. NOGGIN rs1372857-GG, COL5A1 rs12722-TT, IGF2 rs3213221-CC, and COL1A1 rs1800012-TT genotypes held various associations with muscle-, bone-, tendon- and ligament-related injuries of differing severities. To further increase our understanding of these, and other, genetic variant associations with injury, competition-wide AFL studies that use more players and a larger array of gene candidates is essential.

Project description:IntroductionMicroRNAs (miRNAs) are small noncoding RNA molecules that regulate genetic expression and are also vital for tumor initiation and development. MiR-29b-3p was found to be involved in regulating various biological processes of tumors, including tumor cell proliferation, metastasis, and apoptosis inhibition; however, the biofunction and molecule-level mechanisms of miR-29b-3p inpapillary thyroid carcinoma (PTC) remain unclear.MethodsThe expression of miR-29b-3p in PTC samples was tested via qRT-PCR. Cellular proliferation was analyzed by CCK-8 and EdU assays, and cellular migratory and invasive abilities were assessed utilizing wound-healing and Transwell assays. In addition, protein expressions of COL1A1, COL5A1, E-cadherin, N-cadherin, Snail, and Vimentin were identified via Western blot (WB) assay. Bioinformatics, qRT-PCR, WB, and dual luciferase reporter assays were completed to identify whether miR-29b-3p targeted COL1A1 and COL5A1. In addition, our team explored the treatment effects of miR-29b-3p on a murine heterograft model.ResultsOur findings revealed that miR-29b-3p proved much more regulated downward in PTC tissue specimens than in adjacent non-cancerous tissues. Meanwhile, decreased expression of miR-29b-3p was strongly related to the TNM stage of PTC patients (p<0.001), while overexpression of miR-29b-3p in PTC cells suppressed cellular migration, invasion, proliferation, and EMT. Conversely, silencing miR-29b-3p yielded the opposite effect. COL1A1 and COL5A1 were affirmed as the target of miR-29b-3p. Additionally, the COL1A1 and COL5A1 were highly expressed in PTC tumor samples than in contrast to neighboring healthy samples. Functional assays revealed that overexpression of COL1A1 or COL5A1 reversed the suppressive role of miR-29b-3p in migration, invasion, and EMT of PTC cells. Finally, miR-29b-3p agomir treatment dramatically inhibited Xenograft tumor growth in the animal model.ConclusionsThese findings document that miR-29b-3p inhibited PTC cells invasion and metastasis by targeting COL1A1 and COL5A1; this study also sparks new ideas for risk assessment and miRNA replacement therapy in PTC.

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Interactions between Gene Variants within the COL1A1 and COL5A1 Genes and Musculoskeletal Injuries in Physically Active Caucasian.

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