Fatigue-induced Alterations of the Patellar Tendon in Elite Sprint Track Cyclists.

This study aims to investigate morphological and mechanical properties and echogenicity of the patellar tendon (PT) after acute fatigue-induced alterations in sprint track cyclists. Fourteen elite track cyclists participated in this study. The exercise protocol consisted of three maximal start accelerations (over a distance of 62.5 m), one maximal start acceleration (at both 125 m and 250 m), and sprints from the standing start. Immediately after testing all measurements, PT stiffness and thickness were set at 5-10-15-20 mm distal from the apex of the patella and 5-10 mm proximal to the tibial tuberosity. CSA was set at proximal, middle, and distal, while echogenicity was at proximal and distal points. The results showed significant increases in PT stiffness at all reference points after start acceleration (p<0.001). PT thickness showed similar results for stiffness, except for location placed at TT-5 (p<0.001). CSA increased significantly in proximal, middle, and distal regions (p<0.001), while echogenicity of the tendon increased in proximal and distal regions (p<0.001) after start acceleration. Regional-dependent alterations of PT thickness and stiffness may be related to anatomical and physiological mechanisms due to acute isometric contraction in the initial phase of standing start. Tendon echogenicity might be also useful in monitoring tendon mechanical properties and defining acute fatigue-induced changes.

Functional and morphological changes in shoulder girdle muscles after repeated climbing exercise.

This study aimed to investigate the acute effect of repeated climbing actions on functional and morphological measures of the shoulder girdle. Fifteen male indoor climbers participated in this study. All the climbers declared route level 6a+, as the best climbing grade (French climbing grade scale). Functional (range of motion - ROM and muscle strength), and morphological measurements (muscle/tendon stiffness and thickness) after a repeated climbing exercise protocol were analysed. The ROM and muscle strength showed significant decreases from baseline to Immediate-Post (IA) as well as significant increases from IA to 1 h-Post for all movements (p ≤ .001 for all). Muscle stiffness showed significant increases from baseline to IA after as well as significant decreases from IA to 1 h-Post for all muscles (p ≤ .001 for all). However, the thickness showed significant increases from baseline to IA for supraspinatus tendon and muscle thickness and occupation ratio (p ≤ .001 for all), while a significant decrease was observed in acromiohumeral distance (p ≤ .001). Significant decreases from IA to 1 h-Post were found for muscles/tendons and occupation ratio (p ≤ .001 for all), while a significant increase for AHD (p ≤ .001). Our data demonstrated acute alterations in tendon thickness due to acute signs of implement symptom in climbers.

The bone microstructure from anterior cruciate ligament footprints is similar after ligament reconstruction and does not affect long-term outcomes.

PURPOSE: The purpose of this study was to assess the quality of the bone tissue microstructure from the footprints of the anterior cruciate ligament (ACL) and its impact on late follow-up outcomes in patients who undergo anterior cruciate ligament reconstruction (ACLR). METHODS: The records of 26 patients diagnosed with a completely torn ACL who underwent ACLR were collected. During the surgery performed using the Felmet method, bone blocks from the native ACL footprints were collected. The primary measurements of the bone microstructure were made using a microtomographic scanner. In late follow-up examinations, a GNRB arthrometer was used. RESULTS: There was no significant difference in the bone microstructure assessed using micro-CT histomorphometric data according to the blood test results, plain radiographs, age or anthropometric data. There was no difference in the bone volume/total volume ratio or trabecular thickness in the area of the native ACL footprints. Routine preoperative examinations were not relevant to the quality of the bone microstructure. The elapsed time from an ACL injury to surgery had no relevance to the results of arthrometry. CONCLUSION: The similarities in the microstructure of bone blocks from ACL footprints from the femur and tibia allow the variable use of these blocks to stabilize grafts in the Felmet method. The bone microstructure is not dependent on the time from injury to surgery. Histomorphometric values of the structure of the femoral and tibial ACL footprints have no impact on the long-term stability of the operated knee joint. TRIAL REGISTRATION: The approval of the Bioethics Committee of the Silesian Medical Chamber in Katowice, Poland (resolution 16/2014) was given for this research. LEVEL OF EVIDENCE: II.

Association of the TNF-α -308G/A polymorphism with lipid profile changes in response to aerobic training program.

Promoter polymorphism of the tumor necrosis factor-α (TNF-α) gene is associated with obesity-related traits, although the role of its potential modifying effect on changes in obesity-related parameters achieved through a training program is still unknown. The aim of the present study was to examine whether the TNF-α-308G/A polymorphism (rs1800629) influences the effects of a training program. Accordingly, we studied the alleles and genotypes distribution in a group of 168 Polish Caucasian women measured for selected body mass and composition, as well as biochemical parameters before and after the realization of a 12-week aerobic training program. Our results showed that TNF-α genotypes can modulate training-induced biochemical parameter changes such as lipid profile. We demonstrated that carriers of the GG genotype are associated with decreases in post-training high-density lipoprotein cholesterol (HDL-C) levels (p<0.001). Additionally, we revealed that participants with the GG genotype had a higher low-density lipoprotein cholesterol (LDL-C) level (p=0.046) during the entire study period. It could be concluded that harboring the GG genotype of rs1800629 may be considered to be a disadvantageous factor in the context of training-induced effects on lipid profile changes in young female participants.

The VEGFA gene and anterior cruciate ligament rupture risk in the Caucasian population.

The aim of the present study was to analyse VEGFA rs699947, rs1570360, and rs2010963 polymorphisms with susceptibility to anterior cruciate ligament rupture (ACLR) in a Polish population. The study included 412 physically active Caucasian participants. The study group consisted of 222 individuals with surgically diagnosed primary ACLR qualified for ligament reconstruction (ACLR group). The control group consisted of 190 apparently healthy participants without any history of ACLR (CON group). Three polymorphisms within the VEGFA (rs699947, rs1570360, and rs2010963) gene were chosen for investigation due to their significance in the angiogenesis signalling pathway and previous associations with risk of ACLRs. Both single-locus and haplotype-based analyses were conducted. No significant differences in the allele and genotype frequency distributions were noted for the rs699947 and rs1570360 polymorphisms. In contrast, rs2010963 was associated with risk of ACLR in the codominant (p=0.047) and recessive model (p=0.017). In the latter, the CC genotype was overrepresented among individuals with ACL rupture (23.4% vs 14.2%, OR=1.85 [1.11-3.08]). Two VEGFA haplotypes were associated with ACLR under the additive (global score=11.39, p=0.022) and dominant model (global score=11.61, p=0.020). The [C;G;G] haplotype was underrepresented in the ACLR group (52.2% vs. 60.3%), whereas the [C;G;C] haplotype was overrepresented (2.9% vs 0.5%). The results obtained suggest a potential correlation between the VEGFA rs2010963 polymorphism and ACLR risk, suggesting that harbouring this specific C allele may be an unfavourable risk factor for a knee injury in Caucasian participants from Poland.

Associations between the dopamine D4 receptor gene polymorphisms and personality traits in elite athletes.

Personality traits and temperament may affect sports performance. Previous studies suggest that dopamine may play an important role in behavior regulation and physical exercise performance. The aim of this study is to determine associations between dopamine D4 receptor gene (DRD4 Ex3) polymorphisms and personality traits (such as neuroticism, extraversion, openness, agreeability and conscientiousness) in elite combat athletes. A total of 302 physically active, unrelated, self-reported Caucasian participants were recruited for this study. The participants consisted of 200 elite male combat athletes and 102 healthy male participants (control group). For personality trait measurements, the NEO Five-Factor Personality Inventory (NEO-FFI) and the State-Trait Anxiety Inventory questionnaires were used. For the genetic assays, blood was collected and all samples were genotyped using the real-time PCR method. A 2 x 3 factorial ANOVA revealed statistically significant differences on the Openness NEO Five Factor Inventory scale for both examined factors, i.e. sport status and genetics DTD4 Ex3. Combat athletes achieved higher scores on the Conscientiousness NEO-FFI scale when compared to controls (7.18 vs 5.98). On the other hand, combat athletes scored lower on the Openness scale in comparison with control group (4.42 vs. 4.63). Subjects with the DRD4 Ex3 s/s genotype had lower results on the openness scale in comparison with participants with the DRD4 Ex3 s/1 genotype (4.01 vs. 4.57) and higher DRD4 Ex3 1/1 genotype (4,01 vs. 3,50). In conclusion, we found an association between the dopamine D4 receptor gene in variable number tandem repeat (VNTR) polymorphisms and athletic status for two NEO-FFI factors: Openness and Conscientiousness. The DRD4 exon 3 polymorphism may be associated with the selected personality traits in combat athletes, thereby modulating athletes' predisposition to participate in high risk sports.

Are IL1B, IL6 and IL6R Gene Variants Associated with Anterior Cruciate Ligament Rupture Susceptibility?

Cytokines, such as interleukins, are crucial in regulating critical cell signaling pathways as well as being major contributors to inflammatory response and are upregulated during ligament and tendon injuries. The genes encoding key interleukins, such as IL1B and IL6 as well as interleukin receptor IL6R, were chosen as candidate genes for association with soft tissue injuries. The aim of the case-control study was to verify the hypothesis that sequence variants rs1143627, rs16944, rs1800795, rs2228145 in the IL1B, IL6 and IL6R genes are associated with ACL rupture susceptibility in a Polish population. Among four analyzed SNPs, the rs1800795 IL6 gene polymorphism was found to be the only one significantly associated with ACL rupture (p = 0.010, p = 0.022, p = 0.004 for codominant, recessive and overdominant models, respectively; odds ratio = 1.74, 95% CI 1.08-2.81, sex adjusted p = 0.032 for recessive model). With reference to the other analyzed polymorphisms, we failed to show significant differences in the genotype and allele frequencies for IL6R rs2228145as well as IL1B rs16944 and rs1143627 (analyzed alone or in haplotype combination) between the ACL rupture group and the healthy control group among Polish participants. Due to the nature of case-control studies, the results of this study need to be confirmed in independent studies with larger sample sizes.

ADIPOQ polymorphisms are associated with changes in obesity-related traits in response to aerobic training programme in women.

Among genetic variants of the ADIPOQ gene +276 G>T (rs1501299) and -11377 G>C (rs266729) are the most frequently investigated polymorphisms which were described in the context of genetic conditioning for a predisposition to obesity. However, the information of polymorphisms' potential modifying effect on obesity-related traits achieved through training procedures are still unknown. DNA was extracted from buccal cells donated by the 201 participants and genotyping was carried out using real-time PCR. The genotype distribution was examined in a group of women measured for chosen traits before and after the completion of a 12-week training programme. Our results suggest that the ADIPOQ genotypes analyzed individually or in combination can modulate training-induced body mass measurements changes: after the training programme, carriers of rs1501299 T allele and rs266729 C allele were characterized by a greater reduction in fat mass percentage (FM), fat mass, and body mass. Moreover, the ADIPOQ polymorphisms were associated with changes in lipid profile in response to training. Additionally, we showed three main effects of genotypes for the FM, LDL-C (rs266729), and TBW (rs1501299). Our study indicate that the both polymorphisms are associated with changes in obesity-related traits in response to 12-week aerobic training programme in Caucasian women. From this evidence, it could be concluded that rs1501299 G and rs266728 G variants may be considered as disadvantageous factor in the context of training-induced effects on body mass traits.

Is the Combination of COL1A1 Gene Polymorphisms a Marker of Injury Risk?

CONTEXT: The most commonly injured body part for skiing has been found to be the knee. The rupture of the anterior cruciate ligament (ACL) was the most frequent diagnosis. ACL ruptures are determined by several extrinsic and intrinsic risk factors including those that are hormonal, neuromuscular, anatomical, or genetic. OBJECTIVES: To examine the association of both COL1A1 rs1800012 (+1245G/T) and COL1A1 rs1107946 (-1997G/T) polymorphisms, individually and as haplotypes, with ACL ruptures in recreational Polish skiers. DESIGN: Genomic DNA was extracted from buccal cells donated by the subjects, and genotyping was carried out using real-time polymerase chain reaction. SETTINGS: University laboratory. PARTICIPANTS: 138 male recreational skiers with surgically diagnosed primary ruptures and 183 apparently healthy male recreational skiers not differing markedly in age or level of exposure to ACL injury. MAIN OUTCOME MEASURES: COL1A1 rs1800012 and COL1A1 rs1107946 polymorphisms. RESULTS: There were significant differences in genotype distribution of the COL1A1 rs1800012 polymorphism between the ACL rupture group and the control group. The GG homozygotes were underrepresented in the ACL rupture group compared with the control group. There were no significant differences in genotype distribution or allele frequency of COL1A1 rs1107946 polymorphisms between the ACL rupture group and the control group. The G-G (COL1A1 rs1800012G and COL1A1 rs1107946G) haplotype was the most common. There were no significant differences in haplotype distribution between the ACL-rupture and control groups. CONCLUSION: The study showed that GG homozygotes were underrepresented in the ACL-rupture group compared with the control group, which suggests an association with reduced risk of ACL injury.

A bioresorbable polylactide implant used in bone cyst filling.

The aims in treating patients diagnosed with critical-sized bone defects resulting from bone cysts are to replace the lost bone mass after its removal and to restore function. The standard treatment is autologous or allogeneic bone transplantation, notwithstanding the known consequences and risks due to possible bone infection, donor site morbidity, bleeding and nerve injury and possible undesirable immune reactions. Additionally, allogeneic grafts are inhomogeneous, with a mosaic of components with difficult-to-predict regenerative potential, because they consist of cancellous bone obtained from different bones from various cadavers. In the present study, a 22-year-old patient with a history of right humerus fracture due to bone cysts was diagnosed with recurrent cystic lesions based on X-ray results. The patient qualified for an experimental program, in which he was treated with the application of a bioresorbable polylactide hybrid sponge filled with autologous platelet-rich plasma. Computed tomography and magnetic resonance imaging performed 3, 6, and 36 months after surgery showed progressive ossification and bone formation inside the defect cavity in the humerus. Three years after treatment with the bone substitute, the patient is pain free, and the cystic lesions have not reoccurred.

Association of the MTHFR 1298A>C (rs1801131) polymorphism with speed and strength sports in Russian and Polish athletes.

It has been suggested that DNA hypomethylation because of poorer effectiveness of the 5,10-methylenetetrahydrofolate reductase (MTHFR) enzyme induces muscular growth. We hypothesised that the common, functional 1298A>C polymorphism in the MTHFR gene is associated with athletic status. To test this hypothesis, we investigated the distribution of the 1298A>C variant in Polish (n = 302) and Russian (n = 842) athletes divided into four groups: endurance, strength-endurance, sprint-strength and strength-endurance, as well as in 1540 control participants. We found different genotypes (the AC heterozygote advantage) and allele distributions among sprint-strength athletes and strength athletes than the groups of sedentary controls for each nationality. In the combined study, the allelic frequencies for the 1298C variant were 35.6% in sprint-strength athletes (OR 1.18 [1.02-1.36], P = 0.024 vs. controls) and 38.6% in strength athletes (OR 1.34 [1.10-1.64], P = 0.003 vs. controls). The results of the initial and repetition studies as well as the combined analysis suggest that the functional 1298A>C polymorphism in the MTHFR gene is associated with athletic status. The presence of the C allele seems to be beneficial in sprint-strength and strength athletes. It needs to be established whether and to what extent this effect is mediated by alteration in DNA methylation status.

Effect of Step Load Based on Time under Tension in Hypoxia on the ACL Pre-Operative Rehabilitation and Hormone Levels: A Case Study.

The aim of the study was to determine the effect of step load in hypoxia on the effectiveness of preoperative rehabilitation (PR) and hormone levels based on a case study. Introduction: We assessed the impact of variables such as rate of movement and time under tension (TUT) in normobaric hypoxia on the levels of growth hormone (GH), insulin-like growth factor 1 (IGF-1), and erythropoietin (EPO). Additionally, the impact of step load on the hypertrophy and strength of knee extensors and flexors was assessed. Methods: The work uses a case study, the research subject of which was a 23-year-old female professional handball player. The tests included an isokinetic assessment of the peak torque of knee extensors and flexors as well as body composition analysis. Results: The results showed a more than (10.81-fold) increase in GH after the microcycle with time under tension (TUT). The deficit between the lower limbs was also reduced. Conclusions: Using a hypoxic environment based on an appropriate altitude, combined with changes such as a short rest break between sets and a controlled tempo of movement with an eccentric phase, TUT may offer an alternative to the PR process, especially among athletes who care about fast RTS.

The -9/+9 polymorphism of the bradykinin receptor Beta 2 gene and athlete status: a study involving two European cohorts.

Previous studies concerning the relevance of BDKRB2 gene polymorphisms revealed that the absence (-9 allele) of a nine-base-pair sequence in exon 1 of the BDKRB2 gene is correlated with higher skeletal muscle metabolic efficiency, glucose uptake during exercise, and endurance athletic performance. The aim of the study was to investigate the association between the BDKRB2 -9/+9 polymorphism and elite athletic status in two cohorts of eastern European athletes. We examined the genotype distribution of the BDKRB2 9/+9 polymorphic site in a group of Polish athletes and confirmed the results obtained in a replication study of Russian athletes. Three hundred and two Polish athletes and 684 unrelated sedentary controls, as well as 822 Russian athletes and 507 unrelated sedentary volunteers, were recruited for this study. All samples were genotyped for the -9/+9 polymorphism within exon 1 of the BDKRB2 gene using polymerase chain reaction. Significance was assessed by chi square analysis with Bonferroni's correction for multiple testing. We found no statistical difference in the -9/+9 genotype and allele frequencies in two groups of athletes divided into four subgroups: endurance, sprint-endurance, sprint-strength, and strength athletes, compared with controls. There were no significant differences in allele frequencies (p = 0.477) and genotype distribution (p = 0.278) in the initial and replication studies. Thus, no association was found between the BDKRB2 -9/+9 polymorphism and elite athletic status in two cohorts of eastern European athletes.

Association of the ADRB2 Gly16Arg and Glu27Gln polymorphisms with athlete status.

The ß-adrenergic receptors (ß-ARs) have known functional roles in cardiovascular and pulmonary responses as well as the appropriate substrate metabolism required for athletic ability. Thus, the ß-AR genes are plausible candidates for the variations observed in strength/power and endurance performance levels. The aims of the present study were to compare the frequency distribution of the ADRB2 Gly16Arg and ADRB2 Glu27Gln polymorphisms among athletes of sports with different metabolic and cardiopulmonary demands (endurance vs. strength/power) and to test the association between the Gly16Arg and Glu27Gln genotypes and athlete status. The study was performed in a group of 223 Polish athletes of the highest nationally competitive standard (123 endurance-oriented athletes and 100 strength/power athletes). Control samples were prepared from 354 unrelated, sedentary volunteers. The χ² test of independence revealed that the frequencies of the Gly16 and Glu27 alleles were significantly higher in the strength/power athletes than in the controls (69.0% vs. 59.7%; df = 1, P = 0.017 and 51% vs. 41.5%; df = 1 P = 0.017, respectively). The study showed that ADRB2 Gly16Arg and Glu27Gln markers are associated with athlete status in Polish athletes. An excess of Gly16 and Glu27 alleles and the Gly16:Glu27 haplotype observed in the strength/power athlete subgroup suggests that the Gly16 and Glu27 alleles might increase the probability of becoming a strength/power athlete rather than an endurance-oriented athlete.

Association of rs699 (M235T) polymorphism in the AGT gene with power but not endurance athlete status.

Thus far, genetic studies of the renin-angiotensin system (RAS) with respect to athletic performance or athlete status have mainly focused on the angiotensin-converting enzyme gene and its insertion/deletion polymorphism. The aim of this study was to investigate the functional rs699 (M235T) polymorphism in angiotensinogen (AGT), the second most important gene of the RAS, for association with athletic status and level of performance. The study included 123 endurance athletes and 100 power-oriented athletes, who were classified as elite or sub-elite according to competitive achievements at the international level, and 354 unrelated sedentary control subjects. The M235T genotype and allele distributions differed significantly between power and endurance athletes (p < 0.0001 and p < 0.0002, genotypes and alleles, respectively) and between power athletes and control subjects (p < 0.0001 and p < 0.0002, genotypes and alleles, respectively). The frequency of the CC genotype in the power athlete group was 2.2 times higher and 3.1 times higher than in the control and endurance groups, respectively. No difference was found in M235T allele distribution between elite and sub-elite athletes, either in power- or endurance-oriented athletes. We conclude that the CC genotype of the M235T polymorphism is overrepresented in Polish power athletes, suggesting that the AGT M235T variant is associated with power athletes' status.

Distribution of the AMPD1 C34T polymorphism in Polish power-oriented athletes.

The aims of this study were to determine the distribution of the AMPD1 genotype among groups of high-level Polish power-oriented athletes, and to investigate potential associations between genetic polymorphism in exon 2 of the AMPD1 gene and power-oriented athlete status. Altogether, 158 male Polish power-oriented athletes were genotyped by PCR-RFLP. The genetic control group comprised 160 unrelated male volunteers. We observed significant differences in genotype distribution when all 158 athletes (89.25% CC, 10.75% CT, 0.00% TT; P = 0.0025) were compared with controls (75.00% CC, 23.75% CT, 1.25% TT). A significant deficiency of the T allele was noted in all subgroups (short-distance runners: 5.21%, P = 0.032; short-distance swimmers: 5.56%, P = 0.031; weightlifters: 5.36%, P = 0.024) compared with controls (13.13%), while this trend was even stronger when the frequency of the T allele was compared between controls and all 158 athletes (5.38%, P = 0.0007). Our results indicate a lower frequency of the AMPD1 exon 2 T34 allele in elite Polish power-oriented athletes. Our data suggest that the C allele may help athletes to attain elite status in power-oriented sports.

Variation in the HIF1A gene in elite rowers.

The transcription factor hypoxia-inducible factor 1 (HIF1) is one of the key regulators of cellular metabolism. The aim of this study was to analyze the possible importance of the HIF1A Pro582Ser polymorphisms in rowing. One hundred twenty-seven male Polish rowers (both former and current competitors) were recruited for this study. Genotyping was carried out by polymerase chain reaction. Significance was assessed by Chi-square (χ(2)) analysis. The results obtained revealed that frequency of the HIF1A Pro/Ser genotype (32.28 vs. 18.91%; p = 0.006) and Ser allele (16.93 vs. 10.00%; p = 0.01) were significantly higher in the rowers compared with those in controls. The results obtained confirm the significance of the HIF1A gene as a useful genetic marker in rowing. This kind of information would presumably be applicable in a program to search for the most predisposed individuals and also in the planning of training programs.

Assessment of sheep knee joint after ACL replacement with Achilles tendon autograft and PLA-based implant.

In this study, we propose a new approach in the anterior cruciate ligament (ACL) replacement to provide stability and integration with bone tunnel. A polylactide (PLA)-based tubular implant was used to support the graft stabilization in femoral and tibial bones and to stimulate the healing process after (ACL) replacement on a sheep model. The ACL was replaced with an autologous Achilles tendon split graft. The tendon-to-bone healing in the model was analyzed after 6 and 12 weeks. Two groups of animals were compared, i.e. the group with the PLA-based implant used in the ACL replacement and the control group without the implant. The knee joints were mechanically and clinically evaluated, including the histopathology tests, to determine their stability and integrity. The results indicated that the bioresorbable PLA-based tubular implant may facilitate integration of the tendon graft with bone. Remodeling the allograft inside the implant improves the joint mobility from the first week of healing: no pathological changes were observed at the surgery site and in the animals' mobility. After 6 and 12 weeks of healing no significant changes in the mechanical parameters of the knee joint were observed, regarding the joint failure force, knee displacement, angular mobility range and joint stiffness. Relatively small values of the non-destructive tests in the knee displacement, already 6 weeks after surgery, indicated the early stabilization of the knee joint. The studies showed that the failure forces of knee joints after the ACL replacement with the PLA-based implant are lower than those of an intact joint, although their biomechanical features, including strain-at- failure, are similar. The biomechanical parameters of the knee joint were significantly improved due to the selected method of attaching the autograft ends to the femoral and tibial bone surfaces. After 12 weeks the intra-tunnel tendon-bone site with the PLA implant revealed the better tibia-femur joint mechanical stability, linear force-strain function and the decreasing strain-to-failure value, as compared to the control group.

Are COL22A1 Gene Polymorphisms rs11784270 and rs6577958 Associated with Susceptibility to a Non-Contact Anterior Cruciate Ligament Injury in Polish Athletes?

Understanding the risk factors and etiology of ACL ruptures (anterior cruciate ligament) is crucial due to the injury's high occurrence, significant financial cost to the healthcare sector, and clinical consequences. In this study, we investigated the hypothesis that rs11784270 A/C and rs6577958 C/T SNPs (single gene polymorphism) within COL22A1 are associated with ACL ruptures (ACLR) in Polish soccer players. Methods: 228 athletes with ACLR (157 male, age 26 ± 4, 71 female, age 26 ± 6) and 202 control athletes (117 male, age 26 ± 6, 85 female, age 29 ± 2) engaged in the study. The buccal cell swabs were genotyped using TaqMan® pre-designed SNP genotyping assays, following the manufacturer's recommendations. The R program and SNPassoc package were used to determine the genotype and allele frequency distributions under the various inheritance models (co-dominant, dominant, recessive, and over-dominant). Further, p-values of <0.05 were considered statistically significant. We found no association between the analyzed polymorphisms and the risk of non-contact ACL ruptures in any of the studied models. Although the genetic variants investigated in this study were not associated with the risk of non-contact ACL ruptures, we assumed that the COL22A1 gene remains a candidate for further investigations in musculoskeletal injuries.

Investigation of multiple populations highlight VEGFA polymorphisms to modulate anterior cruciate ligament injury.

Polymorphisms in VEGFA and KDR encoding proteins have been associated with anterior cruciate ligament (ACL) injury risk. We leveraged a collective sample from Sweden, Poland, and Australia to investigate the association of functional polymorphisms in VEGFA and KDR with susceptibility to ACL injury risk. Using a case-control genetic association approach, polymorphisms in VEGFA and KDR were genotyped and haplotypes inferred from 765 controls, and 912 cases clinically diagnosed with ACL rupture. For VEGFA, there was a significant overrepresentation of the rs2010963 CC genotype (p = 0.0001, false discovery rate [FDR]: p = 0.001, odds ratio [OR]: 2.16, 95% confidence interval [CI]: 1.47-3.19) in the combined ACL group (18%) compared to the combined control group (11%). The VEGFA (rs699947 C/A, rs1570360 G/A, rs2010963 G/C) A-A-G haplotype was significantly (p = 0.010, OR: 0.85, 95% CI: 0.69-1.05) underrepresented in the combined ACL group (23%) compared to the combined control group (28%). In addition, the A-G-G construct was significantly (p = 0.036, OR: 0.81, 95% CI: 0.64-1.02) underrepresented in the combined ACL group (12%) compared to the combined CON group (16%). Our findings support the association of the VEGFA rs2010963 CC genotype with increased risk and (ii) the VEGFA A-A-G haplotype with a reduced risk, and are in alignment with the a priori hypothesis. Collectively identifying a genetic interval within VEGFA to be implicated in ACL risk modulation and highlight further the importance of vascular regulation in ligament biology.