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The aim of this study is to assess the genetic variations in Collagen V genes (COL5A1, COL5A2, and COL5A3) and their potential correlation with sports injuries among professional athletes. Collagen proteins are essential components of the extracellular matrix in tissues and play a crucial role in tissue structure. Variations in these genes may impact an individual's susceptibility to sports-related injuries. This investigation seeks to shed light on the genetic factors that may contribute to sports injuries, enabling the development of personalized prevention programs.
The research question of this Extended Essay is: "How are the variations in Type V Collagen genes COL5A1, COL5A2, and COL5A3 related to the prevalence of sports injuries amongst professional athletes?"
We hypothesize that specific genetic variants within COL5A1, COL5A2, and COL5A3 genes may increase an individual's susceptibility to sports injuries.
Collagens are a diverse group of proteins found in the extracellular matrix of tissues, contributing to tissue cohesion and structure.
Among the 28 known collagens, Types I, II, and III, known as major fibrillar collagens, are the predominant structural components in various tissues.
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Minor fibrillar collagens, such as Type V and XI, are present in smaller quantities and often contribute to the structure of Type I and II collagen fibrils.
Collagen V is a heterotrimeric protein composed of three distinct subunits, named 𝛼1, 𝛼2, and 𝛼3, each transcribed from the genes COL5A1, COL5A2, and COL5A3, respectively. These genes are large and exhibit numerous polymorphisms, leading to variations in collagen V properties.
Collagen proteins are integral to various biological processes and have implications for traits like eye shape, scarring, and certain genetic diseases.
Hereditary conditions like Ehlers–Danlos syndrome (EDS) are caused by structural defects in collagen V, resulting in connective tissue abnormalities, joint hypermobility, and skin hyperextensibility (Ehlers–Danlos syndrome).
Sports injuries, including muscle strains, tendon tears, and joint dislocations, are among the most prevalent injuries experienced by athletes and can have substantial socioeconomic and psychological consequences (What is the economic burden of sports injuries?). Severe sports injuries may lead to permanent disabilities, underscoring the importance of effective treatment and prevention strategies.
While professional trainers and medical guidance contribute to sports injury prevention, genetic variations can make some athletes more susceptible to injuries. Therefore, understanding athletes' genotypes in relation to sports injuries can inform the development of personalized prevention programs.
To gain a deeper understanding of the genetic underpinnings of sports injuries, this study explores genetic associations linked to these injuries.
The prevention of sports injuries is of paramount importance due to their potential to devastate athletes, disrupt their careers, and lead to permanent disabilities. These injuries are closely tied to connective tissue structure and are influenced by variations in collagen structures among individuals. However, the specific vulnerability of different collagen types remains unclear.
Furthermore, some athletes can engage in professional sports for extended periods without sustaining injuries. This discrepancy raises the question of whether susceptibility to injuries is a matter of luck or genetic makeup. This study investigates this by analyzing genetic variations in Type V Collagen genes and conducting a statistical analysis to assess the prevalence and correlation between tissue injuries and different COL5 genes using Excel.
To explore the relationship between genetic variations in Collagen V genes (COL5A1, COL5A2, and COL5A3) and sports injuries, a cohort of 129 professional Estonian athletes was selected for analysis. The study participants were aged between 18 and 50 years and actively engaged in professional sports at both national and international levels, subjecting themselves to significant training loads and high levels of physical stress. Among the participants, 76 were involved in endurance sports, while 53 were engaged in strength sports. Of the total athletes, 48 had experienced sports injuries, while 81 had not. The injuries considered in this study encompassed ACL rupture, Achilles tendinopathy, and hamstring strain. It is important to note that all injuries were aggregated without differentiation concerning variations in Collagen V genes.
The athletes who had suffered sports injuries constituted the test group, while those who remained injury-free comprised the control group.
To analyze variations in Type V Collagen genes, we employed genotyping of single nucleotide polymorphisms (SNPs). SNPs are the most common genetic variations in humans, involving substitutions or replacements of the original nucleotide in the reference sequence. The human genome, composed of the four different nucleotides Adenine (A), Thymine (T), Cytosine (C), and Guanine (G), exhibits differences among individuals at various positions along the DNA strand. On average, there is one SNP present in the human genome for every 1,000 nucleotides, resulting in approximately 4-5 million positions where individuals may differ.
The health and sports injury data of these high-level athletes were sourced from the Sports Medicine and Rehabilitation Clinic of Tartu University Hospital. The original research adhered to the principles of the Declaration of Helsinki and received approval from the Research Ethics Committee of the University of Tartu (protocol No. 196/M-30 and No. 207/M-9). Written informed consent was obtained from every participant. The data used in this investigation were provided by Dr. Agnes Magi at the University of Tartu. Permission to access and analyze the original research data was granted via email on 17th February 2019. This dataset included general clinical information, injury records, and the genotypes of the athletes. For the purposes of this study, only the genotypes of COL5A1, COL5A2, and COL5A3 were utilized. The data were pre-processed and organized into an Excel table. Subsequently, the data were stratified by injury status, and differences in SNP frequencies were calculated using the Chi-Squared Test to determine the statistical significance of the findings.
The data analysis was conducted using Excel, where the raw data was organized based on whether it pertained to an injured or non-injured athlete. From the dataset, 20 different single nucleotide polymorphisms (SNPs) were randomly selected for analysis in relation to both injured and non-injured athletes.
| SNP | Allele 1 | Allele 2 | Gene Names |
|---|---|---|---|
| rs78821844 | A | G | COL5A1 |
| rs201383737 | A | C | COL5A2 |
| rs115241344 | C | T | COL5A2 |
| rs11672571 | A | G | COL5A3 |
| rs3745591 | T | C | COL5A3 |
| rs8113693 | T | G | COL5A3 |
| rs67844351 | CTAT | - | COL5A1 |
| rs3745598 | G | A | COL5A3 |
| rs80053780 | G | T | COL5A1 |
| rs76739261 | T | C | COL5A1 |
| rs35678764 | A | C | COL5A3 |
| rs4842141 | G | A | COL5A1 |
| rs889125 | C | A | COL5A3 |
| rs41310211 | A | G | COL5A1 |
| rs188146626 | T | C | COL5A1 |
| rs115807597 | A | G | COL5A3 |
| rs73560080 | C | T | COL5A1 |
| rs3124933 | T | C | COL5A1 |
| rs13289529 | T | C | COL5A1 |
| rs75633644 | A | G | COL5A1 |
The prevalence of each allele on all the SNPs was counted, and their frequencies in the cases (injured) and controls (non-injured) were analyzed. To determine whether the differences between the groups for each SNP were statistically significant, the Chi-Squared test was employed. The Chi-Squared test is utilized to assess the significance of the frequency differences between observed and expected values of variables. This allowed us to calculate a p-value for each result, indicating the accuracy of the findings. For all p-values less than 0.05, the confidence level in the results was set at 95%. Excel was utilized to perform this process, eliminating the need for manual calculations. The analysis identified 5 statistically significant SNPs: rs67844351, rs8113693, rs3745591, rs3745598, and rs35678764. Notably, all but one of these SNPs, rs67844351, were from COL5A3.
The percentage distribution of alleles among injured and non-injured athletes was calculated to assess whether specific alleles were associated with an increased likelihood of sports injuries, as represented in the following charts.
Among non-injured athletes, 28% possessed the CTAT allele on rs67844351, whereas this allele was present in 42% of injured athletes. On rs8113693, the G allele was found in 25% of non-injured and 41% of injured athletes, with the remainder having the T allele. Similarly, for SNP rs3745591, the C allele was observed in 24% of non-injured and 41% of injured athletes, while the rest had the T allele. On rs3745598, the G allele was present in 36% of non-injured athletes and 49% of injured athletes, with the remaining individuals having the A allele. For rs35678764, 63% of non-injured athletes and 77% of injured athletes possessed the C allele, while the remainder had the A allele.
After conducting the Chi-Squared test, it became evident that the statistically significant differences in allele frequencies were primarily associated with COL5A3 and COL5A1. Of the five significant SNPs identified, four were located in COL5A3, and one was from COL5A1. Therefore, in this study, COL5A3 had the most pronounced impact on sports injuries among professional athletes.
To identify the alleles with the most significant impact on the likelihood of sports injuries, the alleles on different SNPs were compared. Percentage differences between the frequencies of minor alleles on SNPs were calculated, using the greater frequency as the base and assuming it to be 100%.
In the case of COL5A1 SNP rs67844351, which involves the presence or absence of the CTAT allele, it was observed that the CTAT allele was 33% more prevalent among injured athletes compared to non-injured athletes, suggesting that the presence of the CTAT allele may increase the susceptibility to sports injuries.
SNPs rs8113693 and rs3745591, both from COL5A3, displayed similar results, resulting in similar charts. These SNPs exhibited the most significant differences in allele frequencies between injured and non-injured athletes. SNP rs8113693 involves variations between the G and T alleles, with 39% more injured athletes possessing the T allele. SNP rs3745591 considers the presence of either the C or T allele, with the analysis showing that the C allele was 41% more prevalent among injured athletes. On rs8113693 and rs3745591, the T and C alleles, respectively, appear to increase the susceptibility to sports injuries.
SNP rs3745598 from COL5A3 showed the smallest difference in allele frequencies between cases and controls. The G allele in this SNP was 27% more common among injured athletes, while the A allele was more prevalent among non-injured athletes. Thus, athletes with the G allele have an increased likelihood of sustaining sports injuries.
In COL5A3 SNP rs35678764, there was a 38% difference in A allele frequencies between injured and non-injured athletes. Interestingly, the A allele was more prevalent among non-injured athletes, although its overall frequency (23-37%) was much lower than that of the C allele (63-77%). This suggests that the A allele may serve as a protective allele, decreasing the probability of sports injuries.
The results of this study align with the hypothesis that certain genetic variants in COL5A1, COL5A2, and COL5A3 increase susceptibility to sports injuries. However, after conducting the Chi-Squared test, it was determined that none of the COL5A2 SNPs in the selection were statistically significant enough for further analysis. Therefore, the analysis focused solely on COL5A1 and COL5A3. The research revealed that specific variations in alleles on SNPs contribute to an individual's increased risk of sports injuries. Importantly, COL5A3 was identified as having the most substantial impact on an individual's likelihood of suffering sports injuries.
Type V Collagen, a minor collagen, is widely distributed as α1(V)2α2(V) heterotrimers but can also be found as α1(V)α2(V)α3(V) heterotrimers (Hoffman, 2008). Collagen V plays a critical role in regulating the shape of collagen I fibrils. Genetic mutations in Collagen V genes have been linked to Ehlers–Danlos syndrome (EDS), characterized by loose joints, joint pain, and joint injuries. Therefore, variations in the Type V Collagen genes could be associated with tendon injuries sustained during sports activities and are promising targets for genetic association studies.
In this study, statistically significant associations were identified between sports injuries and genetic variations in the COL5A1 and COL5A3 genes.
For COL5A1, the significant variation was found in the 3' end of the gene, specifically in the SNP rs67844351. This result is consistent with previous research that has indicated DNA variations in this region influence COL5A1 gene expression (Laguette MJ). In this study, it was observed that variants in the 3' region affect RNA stability, leading to alterations in protein expression. Importantly, this region is associated with tendinopathy, a condition directly related to sports injuries (Mokone, GG; Laguette MJ). Variations in the COL5A1 gene have also been linked to musculotendinous flexibility, measured as Range of Motion (ROM), which is defined as "the ability to move a joint through its complete range of motion" (Whaley, 2006). ROM is considered an intrinsic factor for tendon injuries (Collins, 2009). Several studies have shown that polymorphisms in the 3' region of the COL5A1 gene are involved in the variation of ROM, influencing lower limb ROM by as much as 19.3% (Collins, 2009). This genetic effect has been particularly noted in the context of aging (Brown, 2011). Both hypermobile ROM and reduced ROM have been identified as risk factors for Achilles tendon injuries, which were also included in this study (Collins, 2011). Although there is some controversy, it is not entirely clear whether decreased or increased ROM is directly linked to a higher prevalence of sports injuries. Specific polymorphisms in the 3' end of the COL5A1 gene have been associated with Achilles tendon injuries in various populations, aligning with the findings of this study (Mokone, 2006; September, 2008). These same polymorphisms have also been linked to ROM measurements and age-related changes in ROM (Collins, 2009; Brown, 2011). It would be intriguing to investigate specific injuries and variations among different age groups. While there is no direct evidence suggesting a causal relationship between ROM measurements and tendon injuries, biochemical data indicate reduced RNA stability and COL5A1 expression related to variations in the 3' region. Therefore, it is likely that this polymorphism regulates the amount of functional Type V Collagen, impacting the strength of ligaments and joint capsules.
The other significant variations identified in this study were located in the COL5A3 gene, specifically in SNPs rs8113693, rs3745591, rs3745598, and rs35678764. The COL5A3 gene encodes the α3 protein chain and is expressed in joint capsules, skin, and developing ligaments (Imamura, 2000). Its tissue distribution parallels that of COL5A1 and COL5A2, suggesting the presence of Collagen V heterotrimers in tissues where COL5A3 is highly expressed, such as the placenta, uterus, heart, lungs, and brain. COL5A3 expression has also been observed in developing muscles and nascent ligaments, which eventually form bones, as well as in joints (Imamura, 2000). While the role of COL5A3 in EDS has not been confirmed (Hoffman, 2008), it may have a role in connective tissue remodeling, such as during wound healing or tendinopathy (Sumiyoshi, 2012; Bitterman, 2018). To date, only a few publications have analyzed the associations between sports injuries and variations in the COL5A3 gene. A study evaluating gene expression changes during tendinopathy identified upregulation of COL5A3 (Jelinsky, 2011). Considering the heterotrimeric nature of Collagen V and the necessity of all three collagen chains, COL5A3 could play a substantial role in regulating mechanisms that lead to joint injuries. Thus, this study has established a significant association between Type V Collagen genes and sports injuries, although the molecular and cellular mechanisms require further exploration.
Errors: In this research, there were certain limitations and potential errors. Firstly, the study focused on a specific cohort of Estonian athletes, which may not fully represent the diversity of athletes globally. Additionally, only a limited number of SNPs were analyzed, and the impact of other genetic factors was not considered. Furthermore, the study did not differentiate between types of sports or the severity of injuries, which could provide valuable insights into specific risk factors. It's also important to acknowledge that genetics is just one of many factors contributing to sports injuries, and environmental and lifestyle factors also play a significant role.
What was done well: The study successfully identified statistically significant associations between sports injuries and genetic variations in COL5A1 and COL5A3. The research methodology, including the use of genotyping and statistical analysis, was appropriate for addressing the research question. The discussion provided a thorough exploration of the potential mechanisms underlying these associations, offering valuable insights into the role of Type V Collagen genes in sports injuries.
What could be done better: To enhance the study, future research could consider a more diverse and larger sample of athletes from different regions and sports disciplines. The inclusion of more SNPs and the investigation of gene-gene interactions could provide a more comprehensive understanding of the genetic factors contributing to sports injuries. Additionally, the study could benefit from a more detailed analysis of specific types of injuries and their severity. Finally, exploring the interplay between genetic and environmental factors in sports injury risk could yield valuable insights for injury prevention and management.
This Extended Essay addressed the research question, "How are the variations in Type V Collagen genes COL5A1, COL5A2, and COL5A3 related to the prevalence of sports injuries amongst professional athletes?". The hypothesis that certain genetic variants in COL5A1, COL5A2, and COL5A3 increase susceptibility to sports injuries was partially supported by the study's results. While no COL5A2 SNPs were analyzed, the investigation identified correlations between specific alleles on COL5A1 and COL5A3 and the risk of sports injuries.
The study examined five SNPs and found that the risk of sports injuries was increased in rs67844351 by the presence of the CTAT allele, in rs8113693 by the T allele, in rs3745591 by the C allele, in rs3745598 by the G allele, and in rs35678764 by the C allele. Conversely, protective alleles were identified for each of these SNPs: the absence of CTAT in rs67844351, the G allele in rs8113693, the T allele in rs3745591, the A allele in rs3745598, and the A allele in rs35678764.
The Genetic Variations in Collagen V Genes and their Relationship to Sports Injuries. (2024, Jan 23). Retrieved from https://studymoose.com/document/the-genetic-variations-in-collagen-v-genes-and-their-relationship-to-sports-injuries
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