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 … Show more
“…Another 20 citations were excluded with reasons. Eventually, 21 articles [ 17 , 20 – 39 ] were enrolled in the meta-analysis. Fig.…”
Section: Resultsmentioning
confidence: 99%
“…The basic characteristics of eligible studies were shown in Table 1 . Totally, 21 articles [ 17 , 20 – 39 ] were included, of which four articles [ 27 , 28 , 31 , 36 ] were cohort studies, one article [ 22 ] was cross-sectional study, and the rest 16 articles were case–control studies. Of the included studies, three studies [ 22 , 28 , 35 ] were on Asian population (Chinese, South Korean, Japanese), one study [ 24 ] was on a mixed population (Brazilian), and the rest 17 studies were on European population.…”
Section: Resultsmentioning
confidence: 99%
“…Eighteen studies [ 20 – 22 , 24 – 36 , 38 , 39 ] with 21 cohorts reported the rs12722 polymorphism and vulnerability to MSTIs, encompassing 2164 cases and 5079 controls. Because the heterogeneity was significant, random-effects model was employed.…”
Section: Resultsmentioning
confidence: 99%
“…Seven studies [ 17 , 20 , 22 , 27 , 29 , 33 , 35 , 38 ] reported the rs13946 polymorphism and susceptibility to MSTIs, including 740 cases and 1678 controls. Significant heterogeneity was observed under heterozygote model and recessive model, where the random-effects model was employed.…”
Section: Resultsmentioning
confidence: 99%
“…In addition, interactions of COL5A1 with other gene might play a role in the present genetic polymorphisms. Functional prediction also suggested that COL5A1 might be involved in the gene–gene interaction with COL1A1, COL5A2, ADAMTS2, and ADAMTS14, which have been reported to be associated with MSTIs [ 20 , 52 , 53 ]. Further studies are encouraged to confirm these interactions in more details.…”
Objective
Inconsistent findings existed on the correlation of collagen type V α1 (COL5A1) gene polymorphisms and musculoskeletal soft tissue injuries (MSTIs). The purpose of this study was to collect and combine the current evidences by a meta-analysis approach.
Methods
Six online databases were searched up to August, 2021. The methodological quality of each individual study was evaluated based upon Newcastle–Ottawa Scale (NOS). The strength of the effect size was presented by odds ratio (OR) with 95% confidence interval (95%CI) in five genetic models. The data were analyzed using Review Manager 5.3.
Results
Twenty-one studies were eligible to this meta-analysis. The study quality was deemed fair to excellent according to NOS. In the overall analyses, the merged data suggested that rs12722, rs71746744, and rs3196378 polymorphisms were correlated to an increased susceptibility to MSTIs. But the association was not established in rs13946 or rs11103544 polymorphism. For rs12722 polymorphism, stratified analyses by injury type and ethnicity identified the association mainly existed in ligament injury and among Caucasian population. For rs13946 polymorphism, subgroup analysis suggested the association existed in tendon and ligament injuries.
Conclusion
This study supports that rs12722 is associated with an elevated susceptibility to ligament injury, especially in the Caucasian population. Rs13946 polymorphism appears to increase the risk to tendon and ligament injuries. Rs71746744 and rs3196378 polymorphisms have a tendency to confer an elevated risk to MSTIs. However, no relevance is found between rs11103544 polymorphism and MSTIs.
“…Another 20 citations were excluded with reasons. Eventually, 21 articles [ 17 , 20 – 39 ] were enrolled in the meta-analysis. Fig.…”
Section: Resultsmentioning
confidence: 99%
“…The basic characteristics of eligible studies were shown in Table 1 . Totally, 21 articles [ 17 , 20 – 39 ] were included, of which four articles [ 27 , 28 , 31 , 36 ] were cohort studies, one article [ 22 ] was cross-sectional study, and the rest 16 articles were case–control studies. Of the included studies, three studies [ 22 , 28 , 35 ] were on Asian population (Chinese, South Korean, Japanese), one study [ 24 ] was on a mixed population (Brazilian), and the rest 17 studies were on European population.…”
Section: Resultsmentioning
confidence: 99%
“…Eighteen studies [ 20 – 22 , 24 – 36 , 38 , 39 ] with 21 cohorts reported the rs12722 polymorphism and vulnerability to MSTIs, encompassing 2164 cases and 5079 controls. Because the heterogeneity was significant, random-effects model was employed.…”
Section: Resultsmentioning
confidence: 99%
“…Seven studies [ 17 , 20 , 22 , 27 , 29 , 33 , 35 , 38 ] reported the rs13946 polymorphism and susceptibility to MSTIs, including 740 cases and 1678 controls. Significant heterogeneity was observed under heterozygote model and recessive model, where the random-effects model was employed.…”
Section: Resultsmentioning
confidence: 99%
“…In addition, interactions of COL5A1 with other gene might play a role in the present genetic polymorphisms. Functional prediction also suggested that COL5A1 might be involved in the gene–gene interaction with COL1A1, COL5A2, ADAMTS2, and ADAMTS14, which have been reported to be associated with MSTIs [ 20 , 52 , 53 ]. Further studies are encouraged to confirm these interactions in more details.…”
Objective
Inconsistent findings existed on the correlation of collagen type V α1 (COL5A1) gene polymorphisms and musculoskeletal soft tissue injuries (MSTIs). The purpose of this study was to collect and combine the current evidences by a meta-analysis approach.
Methods
Six online databases were searched up to August, 2021. The methodological quality of each individual study was evaluated based upon Newcastle–Ottawa Scale (NOS). The strength of the effect size was presented by odds ratio (OR) with 95% confidence interval (95%CI) in five genetic models. The data were analyzed using Review Manager 5.3.
Results
Twenty-one studies were eligible to this meta-analysis. The study quality was deemed fair to excellent according to NOS. In the overall analyses, the merged data suggested that rs12722, rs71746744, and rs3196378 polymorphisms were correlated to an increased susceptibility to MSTIs. But the association was not established in rs13946 or rs11103544 polymorphism. For rs12722 polymorphism, stratified analyses by injury type and ethnicity identified the association mainly existed in ligament injury and among Caucasian population. For rs13946 polymorphism, subgroup analysis suggested the association existed in tendon and ligament injuries.
Conclusion
This study supports that rs12722 is associated with an elevated susceptibility to ligament injury, especially in the Caucasian population. Rs13946 polymorphism appears to increase the risk to tendon and ligament injuries. Rs71746744 and rs3196378 polymorphisms have a tendency to confer an elevated risk to MSTIs. However, no relevance is found between rs11103544 polymorphism and MSTIs.
IntroductionSeveral direct‐to‐consumer (DTC) genetic testing companies have emerged that claim to be able to test for susceptibility for musculoskeletal injuries. Although there are several publications on the emergence of this industry, none have critically evaluated the evidence for the use of genetic polymorphisms in commercial tests. The aim of this review was to identify, where possible, the polymorphisms and to evaluate the current scientific evidence for their inclusion.ResultsThe most common polymorphisms included COL1A1 rs1800012, COL5A1 rs12722, and GDF5 rs143383. The current evidence suggests that it is premature or even not viable to include these three polymorphisms as markers of injury risk. A unique set of injury‐specific polymorphisms, which do not include COL1A1, COL5A1, or GDF5, identified from genome‐wide association studies (GWAS) is used by one company in their tests for 13 sports injuries. However, of the 39 reviewed polymorphisms, 22 effective alleles are rare and absent in African, American, and/or Asian populations. Even when informative in all populations, the sensitivity of many of the genetic markers was low and/or has not been independently validated in follow‐up studies.ConclusionsThe current evidence suggests it is premature to include any of the reviewed polymorphisms identified by GWAS or candidate gene approaches in commercial genetic tests. The association of MMP7 rs1937810 with Achilles tendon injuries, and SAP30BP rs820218 and GLCCI1 rs4725069 with rotator cuff injuries does warrant further investigation. Based on current evidence, it remains premature to market any commercial genetic test to determine susceptibility to musculoskeletal injuries.
Introduction: Although potential relationships with genetic variants of MLCK2, AMPD1 and COL5A1 have been detected in molecular studies evaluating sports performance from the genetic perspective, there are limited data in terms of muscle endurance and physical fitness. Materials and Methods: This study aimed to evaluate these variants in terms of lower limb muscle endurance and physical fitness in thirty-three soccer players. Genotypes were determined by High Resolution Melting (HRM) analysis in qPCR after genomic DNA was isolated from buccal swab samples from the participants. Measurements of lower limb muscle endurance, the dynamic leap and balance test (DLBT), and the standing broad jump test (SBJ) were taken for all the participants. Results: Greater height (p = 0.006), higher DLBT (p = 0.016) and SBJ (p = 0.033) scores, as well as greater left hip adduction (p <0.001), were detected in those with the CT genotype for AMPD1 as compared to those with CC. For MLCK rs28497577, it was found that the players carrying the AA genotype were taller (p = 0.046), heavier (p = 0.049), and had greater left knee extension (p=0.014) and left foot plantar flexion (p =0.040) than those carrying the C allele. Those with the CT genotype for COL5A1 rs12722 had greater right hip extension (p = 0.040) and right knee extension (p = 0.048) than those with the CC genotype. Conclusions: Our results showed that MLCK2 and COL5A1 gene variants are associated with body composition and lower limb muscle endurance, and the presence of the AMPD1 CT genotype may contribute positively to balance, correct positioning, controlled strength, and hip mobility. Evidence level II; Comparative prospective study .
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