scholarly journals Genotype scores in energy and iron-metabolising genes are higher in elite endurance athletes than in nonathlete controls

2020 ◽  
Vol 45 (11) ◽  
pp. 1225-1231
Author(s):  
David Varillas Delgado ◽  
Juan José Tellería Orriols ◽  
Diana Monge Martín ◽  
Juan Del Coso

Information about the association of energy and iron-metabolising genes with endurance performance is scarce. The objective of this investigation was to compare the frequencies of polymorphic variations of genes involved in energy generation and iron metabolism in elite endurance athletes versus nonathlete controls. Genotype frequencies in 123 male elite endurance athletes (75 professional road cyclists and 48 elite endurance runners) and 122 male nonathlete participants were compared by assessing 4 genetic polymorphisms: AMPD1 c.34C/T (rs17602729), PPARGC1A c.1444G/A (rs8192678) HFEH63D c.187C/G (rs1799945) and HFEC282Y c.845G/A (rs1800562). A weighted genotype score (w-TGS; from 0 to 100 arbitrary units (a.u.)) was calculated by assigning a corresponding weight to each polymorphism. In the nonathlete population, the mean w-TGS value was lower (39.962 ± 14.654 a.u.) than in the group of elite endurance athletes (53.344 ± 17.053 a.u). The binary logistic regression analysis showed that participants with a w-TGS > 38.975 a.u had an odds ratio of 1.481 (95% confidence interval: 1.244–1.762; p < 0.001) for achieving elite athlete status. The genotypic distribution of polymorphic variations involved in energy generation and iron metabolism was different in elite endurance athletes vs. controls. Thus, an optimal genetic profile in these genes might contribute to physical endurance in athlete status. Novelty Genetic profile in energy generation and iron-metabolising genes in elite endurance athletes is different than that of nonathletes. There is an implication of an “optimal” genetic profile in the selected genes favouring endurance sporting performance.

2019 ◽  
Vol 5 (1) ◽  
Author(s):  
David Varillas Delgado ◽  
Juan José Tellería Orriols ◽  
Carlos Martín Saborido

Abstract Background The genetic profile that is needed to define an endurance athlete has been studied during recent years. The main objective of this work is to approach for the first time the study of genetic variants in liver-metabolizing genes and their role in endurance performance by comparing the allelic and genotypic frequencies in elite endurance athletes to the non-athlete population. Methods Genotypic and allelic frequencies were determined in 123 elite endurance athletes (75 professional road cyclists and 48 endurance elite runners) and 122 male non-athlete subjects (sedentary). Genotyping of cytochrome P450 family 2 subfamily D member 6 (CYP2D6 rs3892097), glutathione-S transferase mu isoform 1 (GSTM1), glutathione S-transferase pi (GSTP rs1695) and glutathione S-transferase theta (GSTT) genes was performed by polymerase chain reaction (PCR). The combination of the polymorphisms for the “optimal” polygenic profile has been quantified using the genotype score (GS). Results Statistical differences were found in the genetic distributions between elite endurance athletes and non-athletes in CYP2D6 (p < 0.001) and GSTT (p = 0.014) genes. The binary logistic regression model showed a favourable OR (odds ratio) of being an elite endurance runner against a professional road cyclist (OR: 2.403, 95% CI: 1.213–4.760 (p = 0.002)) in the polymorphisms studied. Conclusions Genotypic distribution of liver-metabolizing genes in elite endurance athletes is different to non-athlete subjects, with a favourable gene profile in elite endurance athletes in terms of detoxification capacity.


Genes ◽  
2021 ◽  
Vol 12 (8) ◽  
pp. 1230
Author(s):  
David Varillas-Delgado ◽  
Juan José Tellería Orriols ◽  
Juan Del Coso

Background: most of the research concerning the influence of genetics on endurance performance has been carried out by investigating target genes separately. However, endurance performance is a complex trait that can stem from the interaction of several genes. The objective of this study was to compare the frequencies of polymorphisms in target genes involving cardiorespiratory functioning in elite endurance athletes vs. non-athlete controls. Methods: genotypic frequencies were determined in 123 elite endurance athletes and in 122 non-athletes. Genotyping of ACE (rs4340), NOS3 (rs2070744 and rs1799983), ADRA2a (rs1800544 and rs553668), ADRB2 (rs1042713 and rs1042714), and BDKRB2 (rs5810761) was performed by polymerase chain reaction. The total genotype score (TGS: from 0 to 100 arbitrary units; a.u.) was calculated from the genotype score in each polymorphism. Results: the mean TGS in non-athletes (47.72 ± 11.29 a.u.) was similar to elite endurance athletes (46.54 ± 11.32 a.u., p = 0.415). The distribution of TGS frequencies were also similar in non-athletes and elite endurance athletes (p = 0.333). There was no TGS cut-off point to discriminate being elite endurance athletes. Conclusions: the genetic profile in the selected genes was similar in elite endurance athletes and in controls, suggesting that the combination of these genes does not determine endurance performance.


2020 ◽  
Vol 132 (4) ◽  
pp. 1202-1208 ◽  
Author(s):  
Dong-Hun Kang ◽  
Woong Yoon ◽  
Byung Hyun Baek ◽  
Seul Kee Kim ◽  
Yun Young Lee ◽  
...  

OBJECTIVEThe optimal front-line thrombectomy choice for primary recanalization of a target artery remains unknown for patients with acute large-vessel occlusion (LVO) and an underlying intracranial atherosclerotic stenosis (ICAS). The authors aimed to compare procedural characteristics and outcomes between patients who received a stent-retriever thrombectomy (SRT) and patients who received a contact aspiration thrombectomy (CAT), as the front-line approach for treating LVO due to severe underlying ICAS.METHODSOne hundred thirty patients who presented with acute LVO and underlying severe ICAS at the occlusion site were included. Procedural characteristics and treatment outcomes were compared between patients treated with front-line SRT (n = 70) and those treated with front-line CAT (n = 60). The primary outcomes were the rate of switching to an alternative thrombectomy technique, time from groin puncture to initial reperfusion, and duration of the procedure. Initial reperfusion was defined as revealing the underlying culprit stenosis with an antegrade flow after thrombectomy.RESULTSThe rate of switching to an alternative thrombectomy after failure of the front-line technique was significantly higher in the CAT group than in the SRT group (40% vs 4.3%; OR 2.543, 95% CI 1.893–3.417, p < 0.001). The median time from puncture to initial reperfusion (17 vs 31 minutes, p < 0.001) and procedure duration (39 vs 75.5 minutes, p < 0.001) were significantly shorter in the SRT group than in the CAT group. In the binary logistic regression analysis, a longer time from puncture to initial reperfusion was an independent predictor of a 90-day poor (modified Rankin Scale score 3–6) functional outcome (per 1-minute increase; OR 1.029, 95% CI 1.008–1.050, p = 0.006).CONCLUSIONSThe authors’ results suggest that SRT may be more effective than CAT for identifying underlying culprit stenosis and therefore considered the optimal front-line thrombectomy technique in acute stroke patients with LVO and severe underlying ICAS.


Author(s):  
Lisa Millgård Sagberg ◽  
Asgeir S. Jakola ◽  
Ingerid Reinertsen ◽  
Ole Solheim

AbstractDue to the lack of reliable prognostic tools, prognostication and surgical decisions largely rely on the neurosurgeons’ clinical prediction skills. The aim of this study was to assess the accuracy of neurosurgeons’ prediction of survival in patients with high-grade glioma and explore factors possibly associated with accurate predictions. In a prospective single-center study, 199 patients who underwent surgery for high-grade glioma were included. After surgery, the operating surgeon predicted the patient’s survival using an ordinal prediction scale. A survival curve was used to visualize actual survival in groups based on this scale, and the accuracy of clinical prediction was assessed by comparing predicted and actual survival. To investigate factors possibly associated with accurate estimation, a binary logistic regression analysis was performed. The surgeons were able to differentiate between patients with different lengths of survival, and median survival fell within the predicted range in all groups with predicted survival < 24 months. In the group with predicted survival > 24 months, median survival was shorter than predicted. The overall accuracy of surgeons’ survival estimates was 41%, and over- and underestimations were done in 34% and 26%, respectively. Consultants were 3.4 times more likely to accurately predict survival compared to residents (p = 0.006). Our findings demonstrate that although especially experienced neurosurgeons have rather good predictive abilities when estimating survival in patients with high-grade glioma on the group level, they often miss on the individual level. Future prognostic tools should aim to beat the presented clinical prediction skills.


Land ◽  
2021 ◽  
Vol 10 (2) ◽  
pp. 117
Author(s):  
Mireille Mizero ◽  
Aristide Maniriho ◽  
Bosco Bashangwa Mpozi ◽  
Antoine Karangwa ◽  
Philippe Burny ◽  
...  

Rwanda’s Land Policy Reform promotes agri-business and encourages self-employment. This paper aims to analyze the situation from a self-employment perspective when dealing with expropriation risk in rural areas. In this study, we conducted a structured survey addressed to 63 domestic units, complemented by focus groups of 47 participants from Kimonyi Sector. The binary logistic regression analysis revealed that having job alternatives, men heading domestic units, literacy skills in English, and owning land lease certificates (p < 0.05) are positively and significantly related to awareness of land expropriation risk. The decision of the head of the domestic unit to practice the main activity under self-employment status is positively influenced by owning a land lease certificate, number of plots, and French skills, while skills in English and a domestic unit’s size have a positive and significant influence on involvement in a second activity as self-employed. Information on expropriation risk has no significant effect on self-employment. The domestic unit survey revealed that 34.9% of the heads of domestic units only have one job, 47.6% have at least two jobs in their everyday life, 12.7% have a minimum of three jobs, and 4.8% are inactive. The focus group synthesis exposed the limits to self-employment ability and facilities.


2017 ◽  
Vol 55 (4) ◽  
pp. 212-221 ◽  
Author(s):  
Ashok Kumar Ahirwar ◽  
Archana Singh ◽  
Anju Jain ◽  
Surajeet Kumar Patra ◽  
Binita Goswami ◽  
...  

AbstractIntroduction. Endothelial dysfunction has been considered as one of the important factors in pathogenesis of Metabolic Syndrome (Met S). Subclinical hypothyroidism (SCH) has also been reported to be associated with Met S. The aim of our study is to evaluate the association of raised TSH with mediators of endothelial dysfunction in Met S with Subclinical hypothyroidism as compared to healthy controls.Methods. Study population consisted of 100 subjects, out of which 50 were cases of Met S and 50 were healthy controls. Met S group were further divided into two, based on the presence & absence of SCH. Serum insulin, T3, T4, TSH were measured by chemiluminescence based immunoassay (CLIA). Serum nitric oxide (NO) levels were measured by Modified Griess’s method and serum endothelin-1 (ET-1) levels were measured by ELISA.Results. Out of 50 cases of Met S, SCH was diagnosed in 22. The mean serum TSH levels were significantly higher in Met S cases as compared to healthy controls (5.7 ± 1.2 μIU/mL vs. 2.3 ± 1.6 μIU/mL, P <0.0001). Mean serum NO levels were significantly lower in Met S cases as compared to healthy control (15.4 ± 10 μM vs. 21 ± 10 μM, p = 0.009). Mean serum ET-1 levels were significantly higher in Met S cases as compared to healthy controls (2.68 ± 1.7 fmol/mL vs. 2.1 ± 0.84 fmol/mL, p = 0.011). On Pearson’s correlation analysis, TSH showed positive correlation with ET-1 (r = 0.341, p = 0.001) and negative correlation with NO (r = −0.331, p = 0.001). Binary logistic regression analysis showed that TSH, NO and ET-1 has significant odd’s ratio for predicting Met S.Conclusion. Met S cases were screened for thyroid abnormalities and found to have 44% of SCH along with co-existing endothelial dysfunction. Raised TSH in SCH could cause endothelial dysfunction which may lead to Met S and associated co-morbidities. Present study gives new insight in linking endothelial dysfunction and raised TSH in Met S. Therefore, Met S cases should be screened for SCH and treated appropriately to attenuate endothelial dysfunction and associated comorbidities in Met S.


Nutrients ◽  
2021 ◽  
Vol 13 (2) ◽  
pp. 491
Author(s):  
Aslı Devrim-Lanpir ◽  
Lee Hill ◽  
Beat Knechtle

Endurance athletes need a regular and well-detailed nutrition program in order to fill their energy stores before training/racing, to provide nutritional support that will allow them to endure the harsh conditions during training/race, and to provide effective recovery after training/racing. Since exercise-related gastrointestinal symptoms can significantly affect performance, they also need to develop strategies to address these issues. All these factors force endurance athletes to constantly seek a better nutritional strategy. Therefore, several new dietary approaches have gained interest among endurance athletes in recent decades. This review provides a current perspective to five popular diet approaches: (a) vegetarian diets, (b) high-fat diets, (c) intermittent fasting diets, (d) gluten-free diet, and (e) low fermentable oligosaccharides, disaccharides, monosaccharides and polyols (FODMAP) diets. We reviewed scientific studies published from 1983 to January 2021 investigating the impact of these popular diets on the endurance performance and health aspects of endurance athletes. We also discuss all the beneficial and harmful aspects of these diets, and offer key suggestions for endurance athletes to consider when following these diets.


Author(s):  
Sneha Sharma ◽  
Raman Tandon

Abstract Background Prediction of outcome for burn patients allows appropriate allocation of resources and prognostication. There is a paucity of simple to use burn-specific mortality prediction models which consider both endogenous and exogenous factors. Our objective was to create such a model. Methods A prospective observational study was performed on consecutive eligible consenting burns patients. Demographic data, total burn surface area (TBSA), results of complete blood count, kidney function test, and arterial blood gas analysis were collected. The quantitative variables were compared using the unpaired student t-test/nonparametric Mann Whitney U-test. Qualitative variables were compared using the ⊠2-test/Fischer exact test. Binary logistic regression analysis was done and a logit score was derived and simplified. The discrimination of these models was tested using the receiver operating characteristic curve; calibration was checked using the Hosmer—Lemeshow goodness of fit statistic, and the probability of death calculated. Validation was done using the bootstrapping technique in 5,000 samples. A p-value of <0.05 was considered significant. Results On univariate analysis TBSA (p <0.001) and Acute Physiology and Chronic Health Evaluation II (APACHE II) score (p = 0.004) were found to be independent predictors of mortality. TBSA (odds ratio [OR] 1.094, 95% confidence interval [CI] 1.037–1.155, p = 0.001) and APACHE II (OR 1.166, 95% CI 1.034–1.313, p = 0.012) retained significance on binary logistic regression analysis. The prediction model devised performed well (area under the receiver operating characteristic 0.778, 95% CI 0.681–0.875). Conclusion The prediction of mortality can be done accurately at the bedside using TBSA and APACHE II score.


2021 ◽  
Vol 36 ◽  
pp. 153331752110213
Author(s):  
Anamaria Jurcau ◽  
Vharoon Sharma Nunkoo

Background: The study aims at identifying features predictive of early onset of dementia in Parkinson’s disease (PD). Methods: 103 non-demented PD patients were evaluated on various scales at baseline and 89 patients at 3-year follow-up. Results: By the end of the study 43.8% of patients developed dementia. The development of dementia was linked to the baseline Mini Mental State Examination score (Pearson coefficient r = .404, p = 0.013), the presence of autonomic dysfunctions (r = −.621, p < 0.001) and insomnia (r = −.526, p = 0.001). A binary logistic regression analysis showed that the development of dementia was correlated strongly with the presence of autonomic dysfunctions (95% CI 2.60 to 52.83, p < 0.001), and insomnia (95% CI 0.60 to 0.95, p = 0.017). Conclusion: Patients with signs of autonomic dysfunction and insomnia are at higher risk for developing dementia and deserve closer monitoring of cognitive symptoms.


2014 ◽  
Vol 7 (4) ◽  
pp. 586-602 ◽  
Author(s):  
Erkan Oktay ◽  
Abdulkerim Karaaslan ◽  
Ömer Alkan ◽  
Ali Kemal Çelik

Purpose – The main aim of this study is to determine the factors that influence the housing demand of households in Erzurum, northeastern Turkey. Housing demand is generally affected by several factors including housing prices, individuals’ income, expectations and choices and so on, as a means of its demographic and socio-psychological contexts. Design/methodology/approach – A questionnaire-based cross-sectional survey was carried out, in which the outcome variable had binary responses such as whether to invest in housing or not. A binary logistic regression analysis was performed to estimate the underlying data. Findings – The questionnaire was conducted in 2,927 households living in Erzurum city center, and 47 per cent of the respondents claimed that they would consider investing in housing in the future. The estimation results reveal that demographic or socio-economic factors that may possibly influence housing demand of the respondents are as follows: household head’s and spouse’s occupation, monthly income, the number of individuals in the family and car ownership. Originality/value – This paper involves the most comprehensive survey addressing the housing demand in the East Anatolian Region, Turkey. Additionally, this paper aims to contribute to the existing housing literature through establishing the statistical analysis of housing demand in an unstudied territory of the world.


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