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

Genes ◽  
2021 ◽  
Vol 12 (7) ◽  
pp. 1056
Author(s):  
Katarzyna Leźnicka ◽  
Ewelina Żyźniewska-Banaszak ◽  
Magdalena Gębska ◽  
Anna Machoy-Mokrzyńska ◽  
Anna Krajewska-Pędzik ◽  
...  
Keyword(s):  
Significant Interaction ◽  
Interaction Analysis ◽  
Gene Interaction ◽  
Musculoskeletal Injury ◽  
Musculoskeletal Injuries ◽  
Caucasian Population ◽  
Muscle Area ◽  
Physically Active ◽  
Haplotype Combination ◽  
Injury Status

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.

scholarly journals A circular RNAs dataset landscape reveals potential signatures for the detection and prognosis of early-stage lung adenocarcinoma

BMC Cancer ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Zhiying Chen ◽  
Jiahui Wei ◽  
Min Li ◽  
Yongjuan Zhao
Keyword(s):  
Functional Analysis ◽  
Survival Analysis ◽  
Lung Adenocarcinoma ◽  
Target Genes ◽  
Interaction Analysis ◽  
Early Stage ◽  
Gene Interaction ◽  
Gene Expression Omnibus ◽  
Circular Rnas ◽  
Cerna Network

Abstract Background This study aimed to identify potential circular ribonucleic acid (circRNA) signatures involved in the pathogenesis of early-stage lung adenocarcinoma (LAC). Methods The circRNA sequencing dataset of early-stage LAC was downloaded from the Gene Expression Omnibus database. First, the differentially expressed circRNAs (DEcircRNAs) between tumour and non-tumour tissues were screened. Then, the corresponding miRNAs and their target genes were predicted. In addition, prognosis-related genes were identified using survival analysis and further used to build a network of competitive endogenous RNAs (ceRNAs; DEcircRNA–miRNA–mRNA). Finally, the functional analysis and drug–gene interaction analysis of mRNAs in the ceRNA network was performed. Results A total of 35 DEcircRNAs (30 up-regulated and 5 down-regulated circRNAs) were identified. Moreover, 135 DEcircRNA–miRNA and 674 miRNA–mRNA pairs were predicted. The survival analysis of these target mRNAs revealed that 60 genes were significantly associated with survival outcomes in early-stage LAC. Of these, high levels of PSMA 5 and low levels of NAMPT, CPT 2 and TNFSF11 exhibited favourable prognoses. In addition, the DEcircRNA–miRNA–mRNA network was constructed, containing 5 miRNA–circRNA (hsa_circ_0092283/hsa-miR-762/hsa-miR-4685-5p; hsa_circ_0070610/hsa-let-7a-2-3p/hsa-miR-3622a-3p; hsa_circ_0062682/hsa-miR-4268) and 60 miRNA–mRNA pairs. Functional analysis of the genes in the ceRNA network showed that they were primarily enriched in the Wnt signalling pathway. Moreover, PSMA 5, NAMPT, CPT 2 and TNFSF11 had strong correlations with different drugs. Conclusion Three circRNAs (hsa_circ_0062682, hsa_circ_0092283 and hsa_circ_0070610) might be potential novel targets for the diagnosis of early-stage LAC.

scholarly journals Interaction of miR-181b and IFNA1 Polymorphisms on the Risk of Systemic Lupus Erythematosus

2020 ◽  
Vol 2020 ◽  
pp. 1-7
Author(s):  
Yong-Ling He ◽  
Jun Yang ◽  
Zhi-Neng Zeng ◽  
Xiang Shi
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Quantitative Pcr ◽  
Lupus Erythematosus ◽  
Interaction Analysis ◽  
Gene Interaction ◽  
Systemic Lupus ◽  
Locus Model ◽  
Increased Risk ◽  
Phenotype Analysis ◽  
Combined Genotypes

Introduction. A previous work has discovered that chromosome 1q32 locus linked to the risk of systemic lupus erythematosus (SLE) and miR-181b located on the susceptibility site with downregulation inversely correlating to its target molecular interferon alpha 1 (IFNA1). The purpose of this study was to investigate the association of miR-181b and IFNA1 polymorphisms with IS risk. Methods. The miR-181b rs322931, IFNA1 rs1332190, and rs10811543 were genotyped using a Multiplex SNaPshot assay. miR-181b expression levels in plasma of SLE patients and controls were analyzed using quantitative PCR. Results. The rs322931 CT, CT/TT, and T allele exerted an increased trend of SLE risk (CT vs. CC: adjusted OR=1.71, 95% CI 1.16-2.50, P=0.01; CT/TT vs. CC: adjusted OR=1.45, 95% CI 1.08-1.95, P=0.01; T vs. C: adjusted OR=1.38, 95% CI 1.07-1.79, P=0.01). Combined genotypes of the rs322931 CT/TT+rs1332190 TT and the rs322931 CC+rs10811543 AG/AA also revealed an increased risk of SLE. Gene-gene interaction analysis showed that a three-locus model consisting of rs322931, rs1332190, and rs10811543 attributed an increased risk of SLE. Further genotype-phenotype analysis revealed that rs322931 CT/TT carriers displayed lower levels of miR-181b. Conclusions. These findings indicate that the miR-181b rs322931 may be singly and jointly responsible for the etiology of SLE by altering miR-181b expression.

scholarly journals Epidemiology and Impact of Prior Musculoskeletal Injury and Orthopaedic Surgery on Draft Rank, Availability, and Short-term Performance in Major League Baseball: A Summary Analysis and Matched Cohort of 1890 Predraft Players

2019 ◽  
Vol 7 (5) ◽  
pp. 232596711984426
Author(s):  
Prem N. Ramkumar ◽  
Sergio M. Navarro ◽  
Bryan C. Luu ◽  
Heather S. Haeberle ◽  
Jaret M. Karnuta ◽  
...  
Keyword(s):  
Surgical Procedures ◽  
Major League Baseball ◽  
Ulnar Collateral Ligament ◽  
Musculoskeletal Injury ◽  
Musculoskeletal Injuries ◽  
Ligament Injury ◽  
Collateral Ligament ◽  
Short Term ◽  
Level Of Evidence ◽  
Major League

Background: Despite the many reports of injury rates in Major League Baseball (MLB), little is known about the epidemiology or impact of prior musculoskeletal injuries and surgical procedures among players entering the MLB draft. Purpose: To determine the (1) epidemiology of all musculoskeletal injuries and surgical procedures among players entering the MLB draft, (2) impact of injury or surgery on draft rank, (3) impact of injury or surgery on availability within the first 2 years of play in the MLB, and (4) impact of injury or surgery on performance. Study Design: Cohort study; Level of evidence, 3. Methods: We retrospectively reviewed 1890 medical records that were completed by MLB team physicians as preparticipation physical assessment prior to the draft from 2014 to 2018. Players were divided into 3 groups: noninjured, nonoperative, and operative. Draft status, overall draft rank, missed games, batting average, and earned run average for the first 2 seasons of MLB play were obtained for all available players. Players across all 3 groups were compared with linear, logistic, and beta regression models, controlling for age, position, injury status, and draft rank. Unadjusted differences among groups were assessed with 1-way analysis of variance. Results: Overall, 750 position players and 1140 pitchers were included, of whom 22.8% had no reported injury history; 48.8% reported injury treated nonoperatively; and 28.5% were treated operatively. The most common predraft injuries were elbow tendinitis (n = 312), ulnar collateral ligament injury (n = 212), and shoulder labral tear (n = 76). The most common predraft treatments were physical therapy (n = 922), ulnar collateral ligament reconstruction (n = 115), and fracture fixation (n = 69). Of the 1890 players, 719 were drafted and played for at least 2 years. No difference was found among noninjured, nonoperative, and operative groups in terms of draft rank, games missed, or performance. Players with a nonoperative injury had a decreased odds ratio of being drafted (0.738; P = .017). Conclusion: More than half of the players entering the MLB reported a history of musculoskeletal injury requiring treatment, and the most commonly affected joints were the shoulder and elbow. Musculoskeletal history did not affect draft rank, short-term availability, or performance for MLB prospects.

scholarly journals Physical and Performance Characteristics Related to Unintentional Musculoskeletal Injury in Special Forces Operators: A Prospective Analysis

2017 ◽  
Vol 52 (12) ◽  
pp. 1153-1160 ◽  
Author(s):  
Nicholas R. Heebner ◽  
John P. Abt ◽  
Mita Lovalekar ◽  
Kim Beals ◽  
Timothy C. Sell ◽  
...  
Keyword(s):  
Risk Factors ◽  
Confidence Interval ◽  
Laboratory Testing ◽  
Musculoskeletal Injury ◽  
Knee Extension ◽  
Musculoskeletal Injuries ◽  
Ground Reaction Forces ◽  
Special Forces ◽  
Reaction Forces ◽  
And Performance

Context:  Seventy-seven percent of musculoskeletal injuries sustained by United States Army Special Forces Operators are preventable. Identification of predictive characteristics will promote the development of screening methods to augment injury-prevention programs. Objective:  To determine physical and performance characteristics that predict musculoskeletal injuries. Setting:  Clinical laboratory. Patients or Other Participants:  A total of 95 Operators (age = 32.7 ± 5.1 years, height = 179.8 ± 6.9 cm, mass = 89.9 ± 12.7 kg). Main Outcome Measure(s):  Laboratory testing consisted of body composition, aerobic and anaerobic capacity, upper and lower body strength and flexibility, balance, and biomechanical evaluation. Injury data were captured for 12 months after laboratory testing. Injury frequencies, cross-tabulations, and relative risks (RRs) were calculated to evaluate the relationships between physical characteristics and injury proportions. Between-groups differences (injured versus uninjured) were assessed using appropriate t tests or Mann-Whitney U tests. Results:  Less shoulder-retraction strength (RR = 1.741 [95% confidence interval = 1.003, 3.021]), knee-extension strength (RR = 2.029 [95% confidence interval = 1.011, 4.075]), and a smaller trunk extension : flexion ratio (RR = 0.533 [95% confidence interval = 0.341, 0.831]) were significant risk factors for injury. Group comparisons showed less trunk strength (extension: P = .036, flexion: P = .048) and smaller right vertical ground reaction forces during landing (P = .025) in injured Operators. Knee strength, aerobic capacity, and body mass index were less in the subgroup of spine-injured versus uninjured Operators (P values = .013−.036). Conclusions:  Knee-extension and shoulder-retraction strength were risk factors for musculoskeletal injury in Operators. Less trunk-flexion and -extension strength, higher body mass index, lower aerobic capacity, and increased ground reaction forces during landing were characteristics that may also contribute to musculoskeletal injury. Having 2 or more risk factors resulted in a greater injury proportion (χ2 = 13.512, P = .015); however, more research is needed. Athletic trainers working in the military or similar high-demand settings can use these data to augment screening and injury-prevention protocols.

scholarly journals Fundamental questions about genes, inactivity, and chronic diseases

2007 ◽  
Vol 28 (2) ◽  
pp. 146-157 ◽  
Author(s):  
Frank W. Booth ◽  
Simon J. Lees
Keyword(s):  
Physical Activity ◽  
Chronic Diseases ◽  
Physical Inactivity ◽  
Gene Interaction ◽  
Future Research ◽  
Molecular Evidence ◽  
Metabolic Dysfunction ◽  
Physically Active ◽  
Early Disease Detection ◽  
Artery Disease

Currently our society is faced with the challenge of understanding the biological basis for the epidemics of obesity and many chronic diseases, including Type 2 diabetes. Physical inactivity increases the relative risk of coronary artery disease by 45%, stroke by 60%, hypertension by 30%, and osteoporosis by 59%. Moreover, physical inactivity is cited as an actual cause of chronic disease by the US Centers of Disease Control. Physical activity was obligatory for survival for the Homo genus for hundreds of thousands of years. This review will present evidence that suggests that metabolic pathways selected during the evolution of the human genome are inevitably linked to physical activity. Furthermore, as with many other environmental interactions, cycles of physical activity and inactivity interact with genes resulting in a functional outcome appropriate for the environment. However, as humans are less physically active, there is a maladaptive response that leads to metabolic dysfunction and many chronic diseases. How and why these interactions occur are fundamental questions in biology. Finally, a perspective to future research in physical inactivity-gene interaction is presented. This information is necessary to provide the molecular evidence required to further promote the primary prevention of chronic diseases through physical activity, identify those molecules that will allow early disease detection, and provide society with the molecular information needed to counter the current strategy of adding physical inactivity into our lives.

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