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Journal articles on the topic 'Total genotype score TGS'

Author: Grafiati

Published: 4 June 2025

Last updated: 1 August 2025

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1

Pranckeviciene, Erinija, Valentina Gineviciene, Audrone Jakaitiene, Laimonas Januska, and Algirdas Utkus. "Total Genotype Score Modelling of Polygenic Endurance-Power Profiles in Lithuanian Elite Athletes." Genes 12, no. 7 (2021): 1067. http://dx.doi.org/10.3390/genes12071067.

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Total genotype score (TGS) reflects additive effect of genotypes on predicting a complex trait such as athletic performance. Scores assigned to genotypes in the TGS should represent an extent of the genotype’s predisposition to the trait. Then, combination of genotypes highly ranks those individuals, who have a trait expressed. Usually, the genotypes are scored by the evidence of a genotype–phenotype relationship published in scientific studies. The scores can be revised computationally using genotype data of athletes, if available. From the available genotype data of 180 Lithuanian elite athl

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Homma, Hiroki, Mika Saito, Aoto Saito, et al. "The Association between Total Genotype Score and Athletic Performance in Weightlifters." Genes 13, no. 11 (2022): 2091. http://dx.doi.org/10.3390/genes13112091.

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This study aimed to investigate the relationship between power-oriented genetic polymorphisms and weightlifting status, create a total genotype score (TGS), and validate the association between TGS models and power-oriented athletes. First, 192 weightlifters and 416 controls were studied, and 12 polymorphisms that have previously been associated with strength, power status, and phenotype were genotyped using the TaqMan SNP genotyping assay. We calculated the TGS for the 12 polymorphisms using a PWM (power-oriented whole model) and for 6 of them using a WRM (weightlifting-related model) based o

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Ab Wahab, Wan Atiyyah, Sarina Md Yusof, Lay Kek Teh, Suhana Aiman, Elin Elisa Khairul, and Nur Amirah Asyiqin Zaihuri. "CORRELATION OF TOTAL GENOTYPE SCORES AND AEROBIC CAPACITY AMONG FIELD HOCKEY PLAYERS." Malaysian Journal of Sport Science and Recreation 18, no. 2 (2022): 161–78. http://dx.doi.org/10.24191/mjssr.v18i2.19555.

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A balanced aerobic and anaerobic capacity is an important determinant of performance among field hockey players during the competition. Training and heritable talent play important roles in determining the performance of the athletes. Therefore, this study aimed to investigate the influence of sport-related genetic variants on aerobic capacity and repeated sprint ability performance among field hockey players. A total of 45 participants (age = 16.42 ± 0.50 years old, height = 1.67 ± 0.06 m) were selected based on the inclusion criteria of this study. Participants were divided into three groups

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Vostrikova, Anna, Victoria Pechenkina, Maria Danilova, Svetlana Boronnikova, and Ruslan Kalendar. "Gene Polymorphism and Total Genetic Score in Martial Arts Athletes with Different Athletic Qualifications." Genes 13, no. 9 (2022): 1677. http://dx.doi.org/10.3390/genes13091677.

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The personalized approach in sports genetics implies considering the allelic variants of genes in polymorphic loci when adjusting the training process of athletes. The personalized approach is used both in sports genetics and in medicine to identify the influence of genotype on the manifestations of human physical qualities that allow to achieve high sports results or to assess the impact of genotype on the development and course of diseases. The impact of genes of the renin-angiotensin and kinin-bradykinin systems in the development of cardiovascular disease in athletes has not been defined.

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Khairul, Elin Elisa, Wan Atiyyah Ab Wahab, Lay Kek Teh, et al. "The Predictive Ability of Total Genotype Score and Serum Metabolite Markers in Power-Based Sports Performance Following Different Strength Training Intensities — A Pilot Study." Pertanika Journal of Science and Technology 31, no. 2 (2023): 1087–103. http://dx.doi.org/10.47836/pjst.31.2.23.

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Muscular power is one of the factors that contribute to an athlete’s performance. This study aimed to explore the predictive ability of total genotype score (TGS) and serum metabolite markers in power-based sports performance following different strength training (ST) intensities. We recruited 15 novice male field hockey players (age = 16.27 ± .12 years old, body mass index = 22.57 ± 2.21 kg/m2) and allocated them to; high-intensity strength training (HIST, n=5), moderate intensity strength (MIST, n=5), and control group (C, n=5). Both training groups completed an eight-week ST intervention. P

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Malyutkina, A., V. Kardakova, M. Burlutskaya, E. Gavrikova, and S. Boronnikova. "Allelic options of genes ACE, PPARG and PPARGC1A at martial artists of the city of Perm." Bulletin of Science and Practice 4, no. 12 (2018): 125–33. https://doi.org/10.5281/zenodo.2255526.

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Genotyping of 143 athletes of the martial artist at three sports schools of Perm aged from 9 up to 20 years is carried out. With use of PCR method allelic options of genes of ACE, PPARG and PPARGC1A are revealed; their frequencies and genotypes are determined. The polymorphisms of I/D of a gene of ACE (angiotensin I converting enzyme) is studied, and also a polymorphism of Pro12→Ala of a gene of PPARG (peroxisome proliferator-activated receptor gamma) and a polymorphism of Gly482Ser of a gene of PPARGC1A (peroxisome proliferator-activated receptor gamma coactivator 1–alpha) are esta

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Varillas-Delgado, David, Juan José Tellería Orriols, and Juan Del Coso. "Genetic Profile in Genes Associated with Cardiorespiratory Fitness in Elite Spanish Male Endurance Athletes." Genes 12, no. 8 (2021): 1230. http://dx.doi.org/10.3390/genes12081230.

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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 r

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Freitas, Nei Adão Ribeiro de, Simone Mader Dall Agnol, Cristiana Magni, Paulo Roberto da Silva, Cesar Augusto de Souza Santos, and Luis Paulo Gomes Mascarenhas. "Comparação entre o polimorfismo do gene Apoe na composição corporal, potência muscular e Total Genotype Score (TGS)." Revista Brasileira de Educação Física e Esporte 35, no. 4 (2021): 131–43. http://dx.doi.org/10.11606/issn.1981-4690.v35i4p131-143.

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Descrever o perfil de saúde dos grupos estudados, verificar a frequência dos alelos e dos genótipos do gene Apolipoproteína E (ApoE) e comparar os polimorfismos do gene ApoE com composição corporal, potência de membros inferiores (MMIIs) e total genotype score (TGS), a amostra foi composta por 81 indivíduos. O ácido desoxirribonucleico (ADN) foi obtido a partir de amostras do esfregaço da mucosa oral. A composição corporal foi avaliada pela balança de bioimpedância OMRON e a potência de MMIIs foi mensurada pelo tapete de contato da Hidrofit, com os testes Squat jump (SJ) e Counter moviment jum

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Gómez-Gallego, Félix, Jonatan R. Ruiz, Amaya Buxens, et al. "Are elite endurance athletes genetically predisposed to lower disease risk?" Physiological Genomics 41, no. 1 (2010): 82–90. http://dx.doi.org/10.1152/physiolgenomics.00183.2009.

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We compared a polygenic profile that combined 33 disease risk-related mutations and polymorphisms among nonathletic healthy control subjects and elite endurance athletes. The study sample comprised 100 healthy Spanish male nonathletic (sedentary) control subjects and 100 male elite endurance athletes. We analyzed 33 disease risk-related mutations and polymorphisms. We computed a health-related total genotype score (TGS, 0–100) from the accumulated combination of the 33 variants. We did not observe significant differences in genotype or allele distributions among groups, except for the rs4994 p

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Pagliaro, Andrea, Anna Alioto, Alessia Boatta, et al. "Genetic Profiling and Performance Optimization in Elite Combat Sport Athletes: A Cross-Sectional Study Based on Total Genetic Score Analysis." Genes 16, no. 4 (2025): 461. https://doi.org/10.3390/genes16040461.

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Background/Objectives: The interplay between genetics and athletic performance has garnered significant attention, particularly regarding performance-enhancing polymorphisms (PEPs) and their role in determining key traits that are critical for athletic success. Therefore, this study investigates the genetic predispositions related to peroxisome proliferator-activated receptor alpha (PPARα), angiotensin converting enzyme (ACE), and creatine kinase muscle-type (CKM) gene variants and their potential influence on elite point-fighting (PF) athletes. Methods: A total of 24 elite PF athletes (12 wom

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Varillas-Delgado, David. "Association of Genetic Profile with Muscle Mass Gain and Muscle Injury Prevention in Professional Football Players after Creatine Supplementation." Nutrients 16, no. 15 (2024): 2511. http://dx.doi.org/10.3390/nu16152511.

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Background: In recent years, the study of creatine supplementation in professional athletes has been of great interest. However, the genetics involved in response to supplementation is unknown. The aim of this study was to analyse, for the first time, the relationship between muscle performance-related genes and the risk of an increased body mass index (BMI) and muscle mass and a decrease in fat mass in professional football players after creatine supplementation. Methods: For this longitudinal study, one hundred and sixty-one men’s professional football players were recruited. The polymorphis

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Ruiz, Jonatan R., David Arteta, Amaya Buxens, et al. "Can we identify a power-oriented polygenic profile?" Journal of Applied Physiology 108, no. 3 (2010): 561–66. http://dx.doi.org/10.1152/japplphysiol.01242.2009.

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Using the model originally developed by Williams and Folland ( J Physiol 586: 113–121, 2008), we determined 1) a “total genotype score” (TGS, from the accumulated combination of the 6 polymorphisms, with a maximum value of “100” for the theoretically optimal polygenic score) in a group of elite power athletes, endurance athletes, and nonathletic controls, and 2) the probability for the occurrence of Spanish individuals with the “perfect” power-oriented profile (i.e., TGS = 100). We analyzed six polymorphism that are candidates to explain individual variations in elite power athletic status or

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Sivakumar, J., M. Chinna Rangaiah, and P. Osman Basha. "Analysis of Physio-biochemical Variables of Selected Tomato Genotypes at the Seedling Stage under Temperature Stress Conditions Using Principal Component Analysis." Asian Journal of Agriculture and Allied Sciences 6, no. 1 (2023): 50–60. http://dx.doi.org/10.56557/ajaas/2023/v6i132.

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Tomato (Solanum lycopersicum L.) is a temperature-sensitive vegetable crop. The present study was designed to analysis the 22 tomato genotypes under temperature stress. Germplasm was allowed to grow up to 28 days under optimal growth conditions and temperature stress was induced by incubating at 37° C for seven days in a plant growth chamber. The physio-biochemical parameters such as Chlorophyll content (CHL), total carotenoids contents (TC), relative water content (RWC), electrolyte leakage (EL), total dissolved solids (TDS) and proline (Pro) were evaluated to analyze the temperature toleranc

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Varillas-Delgado, David. "Influence of Genetic Polymorphisms and Biochemical Biomarkers on Response to Nutritional Iron Supplementation and Performance in a Professional Football Team: A Pilot Longitudinal Study." Nutrients 17, no. 8 (2025): 1379. https://doi.org/10.3390/nu17081379.

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Background: Iron deficiency is a prevalent issue among elite athletes, particularly in endurance-based sports like football, where optimal iron status is crucial for aerobic capacity and performance. Despite the well-documented role of iron in oxygen transport and energy metabolism, the interplay between genetic polymorphisms, biochemical markers, and iron supplementation remains poorly understood. This study aimed to investigate the relationship between genetic polymorphisms and iron status in professional football players, assess the impact of iron supplementation on athletic performance, an

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Antrobus, Mark R., Jon Brazier, Peter C. Callus, et al. "Concussion-Associated Polygenic Profiles of Elite Male Rugby Athletes." Genes 13, no. 5 (2022): 820. http://dx.doi.org/10.3390/genes13050820.

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Due to the high-velocity collision-based nature of elite rugby league and union, the risk of sustaining a concussion is high. Occurrence of and outcomes following a concussion are probably affected by the interaction of multiple genes in a polygenic manner. This study investigated whether suspected concussion-associated polygenic profiles of elite rugby athletes differed from non-athletes and between rugby union forwards and backs. We hypothesised that a total genotype score (TGS) using eight concussion-associated polymorphisms would be higher in elite rugby athletes than non-athletes, indicat

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Wang, Yaqi, Zihong He, Tao Mei, et al. "Sports-Related Genomic Predictors Are Associated with Athlete Status in Chinese Sprint/Power Athletes." Genes 15, no. 10 (2024): 1251. http://dx.doi.org/10.3390/genes15101251.

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Objectives: The aim of this study was to assess the relationship between variant loci significantly associated with sports-related traits in the GWAS Catalog database and sprint/power athlete status, as well as to explore the polygenic profile of elite athletes. Methods: Next-generation sequencing and microarray technology were used to genotype samples from 211 elite athletes who had achieved success in national or international competitions in power-based sports and from 522 non-athletes, who were healthy university students with no history of professional sports training. Variant loci collec

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Sorokina, Anna V., Anastasia S. Koryakova, and Daria R. Levina. "The influence of ADRB2 and PPARGC1A genes on the development of the “endurance” physical quality among martial artists of the city of Perm." Вестник Пермского университета. Серия «Биология»=Bulletin of Perm University. Biology, no. 1 (2024): 83–91. http://dx.doi.org/10.17072/1994-9952-2024-1-83-91.

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Knowledge of genetic predisposition to certain types of sport activities will help improve the development of important physical qualities, and will also allow of scientifically based selection of the most promising athletes and adjustment of their training process. The purpose of this study is to identify the relationship between polymorphic variants of the ADRB2 (Adrenoceptor Beta 2) and PPARGC1A (Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-Alpha) genes associated with endurance in athletes involved in jiu-jitsu and freestyle wrestling and schoolchildren not involved in sp

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Samokhodskaia, Larisa Mikhaylovna, Ekaterina Evgen'evna Starostina, Elena Borisovna Yarovaya, et al. "Mathematic Model for Prediction of Liver Fibrosis Progression Rate in Patients with Chronic Hepatitis C Based on Combination of Genomic Markers." Annals of the Russian academy of medical sciences 70, no. 6 (2015): 651–61. http://dx.doi.org/10.15690/vramn548.

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Aim of study. To evaluate clinical significance of different combinations of gene polymorphisms IL-1b, IL-6, IL-10, TNF, HFE, TGF-b, ATR1, NOS3894, CYBA, AGT, MTHFR, FII, FV, FVII, FXIII, ITGA2, ITGB3, FBG, PAI and their prognostic value for prediction of liver fibrosis progression rate in patients with chronic hepatitis C (CHC).Subjects and methods: 118 patients with CHC were divided into «fast» and «slow» (fibrosis rate progression ≥0,13 and 0,13 fibrosis units/yr; n =64 and n =54) fibrosis groups. Gene polymorphisms were determined. Statistical analysis was performed using Statistica 10.Res

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Varillas-Delgado, David, Esther Morencos, Jorge Gutiérrez-Hellín, et al. "Genetic profiles to identify talents in elite endurance athletes and professional football players." PLOS ONE 17, no. 9 (2022): e0274880. http://dx.doi.org/10.1371/journal.pone.0274880.

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The genetic profile that is needed to identify talents has been studied extensively in recent years. The main objective of this investigation was to approach, for the first time, the study of genetic variants in several polygenic profiles and their role in elite endurance and professional football performance by comparing the allelic and genotypic frequencies to the non-athlete population. In this study, genotypic and allelic frequencies were determined in 452 subjects: 292 professional athletes (160 elite endurance athletes and 132 professional football players) and 160 non-athlete subjects.

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Borzemska, Beata, Paweł Cięszczyk, and Cezary Żekanowski. "The Genetic Basis of Non-Contact Soft Tissue Injuries-Are There Practical Applications of Genetic Knowledge?" Cells 13, no. 22 (2024): 1828. http://dx.doi.org/10.3390/cells13221828.

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Physical activity increases the risk of non-contact injuries, mainly affecting muscles, tendons, and ligaments. Genetic factors are recognized as contributing to susceptibility to different types of soft tissue injuries, making this broad condition a complicated multifactorial entity. Understanding genetic predisposition seems to offer the potential for personalized injury prevention and improved recovery strategies. The candidate gene analysis approach used so far, has often yielded inconclusive results. This manuscript reviews the most commonly studied genetic variants in genes involved in t

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Kim, Dennis Dong Hwan, Hong-Hee Won, Wei Xu, et al. "The Risk of Organ Specific Graft-Versus-Host Disease Can Be Predicted by the Multiple Single Nucleotide Polymorphism Based Predictive Models." Blood 120, no. 21 (2012): 3056. http://dx.doi.org/10.1182/blood.v120.21.3056.3056.

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Abstract Abstract 3056 Background: The pathogenesis of GVHD is not fully understood. Alloreactive T-lymphocytes are believed to be key mediators of GVHD. However, it is not clear if the pathobiology of GHVD is similar in each target organ GVHD. We aimed to identify predictive single nucleotide polymorphisms (SNP) markers associated with the risk of acute or chronic graft versus host disease (GVHD) as well as organ specific GVHD in 394 transplant recipients and donors. Methods: A total of 259 SNPs were genotyped in 53 genes, and evaluated for the risk of acute/chronic GVHD and organ specific GV

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Lee, Heng, Rong-Nan Chien, Li-Heng Pao, Chia-Jung Kuo, Po-Han Huang, and Ming-Ling Chang. "Decoupled Glucose and Lipid Metabolic Recovery after Viral Clearance in Direct-Acting Antiviral-Treated HCV Patients: A 3-Year Prospective Cohort Study." Cells 10, no. 11 (2021): 2934. http://dx.doi.org/10.3390/cells10112934.

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Background/Aim: The recovery pattern of hepatitis C virus (HCV)-associated metabolic alteration after sustained virological response (SVR) following direct-acting antivirals (DAAs) remains elusive. Methods: A prospective cohort study of chronic HCV-infected (CHC) patients (n = 415) receiving DAAs (n = 365) was conducted. Metabolic profiles were examined in SVR patients (n = 360) every 3–6 months after therapy and compared with those of sex- and age-matched controls (n = 470). Results: At baseline, of 415, 168 (40.5%) had insulin resistance (IR). The following were associated: levels of high-de

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Zhang, Fuxin, Ling Han, Bing Wang, et al. "Annexin A6 Polymorphism Is Associated with Pro-atherogenic Lipid Profiles and with the Downregulation of Methotrexate on Anti-Atherogenic Lipid Profiles in Psoriasis." Journal of Clinical Medicine 11, no. 23 (2022): 7059. http://dx.doi.org/10.3390/jcm11237059.

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Background: Annexin A6 (AnxA6) is a lipid-binding protein that regulates cholesterol homeostasis and secretory pathways. However, the correlation of AnxA6 polymorphism with lipometabolism has never been studied in psoriasis. Objectives: To investigate the impact of AnxA6 polymorphism on lipid profiles and the expression of AnxA6 protein in both peripheral blood mononuclear cells (PBMCs) and lipometabolism in psoriasis. Methods: A total of 265 psoriatic patients received methotrexate (MTX) treatment for 12 weeks, after which their lipid profiles were determined by measuring total cholesterol (T

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Alqarni, Abdullah. "Analysis of total lip score system and total groove score for gender identification: A cross-sectional study." Journal of Oral and Maxillofacial Pathology 28, no. 2 (2024): 351–57. http://dx.doi.org/10.4103/jomfp.jomfp_540_23.

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Abstract Background: Endless ink and pixel space have been spent to validate the use of cheiloscopy classification systems in the field of identification. It is becoming evident that lip-print patterns may provide indications about an individual’s gender, race, occupation, habits, blood type, and paternity. Over the course of time, much data have been collected on a substantial population in this field. In the present study, we strive to see how well a noble total lip scoring (TLS) system works in identifying a person’s gender among the College of Dentistry students. We also quantified the tot

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McAuley, Alexander B. T., David C. Hughes, Loukia G. Tsaprouni, et al. "Genetic Variations between Youth and Professional Development Phase English Academy Football Players." Genes 13, no. 11 (2022): 2001. http://dx.doi.org/10.3390/genes13112001.

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The purpose of this study was to examine differences in the genotype frequency distribution of thirty-three single nucleotide variants (SNVs) between youth development phase (YDP) and professional development phase (PDP) academy football players. One hundred and sixty-six male football players from two Category 1 and Category 3 English academies were examined within their specific age phase: YDP (n = 92; aged 13.84 ± 1.63 years) and PDP (n = 74; aged 18.09 ± 1.51 years). Fisher’s exact tests were used to compare individual genotype frequencies, whereas unweighted and weighted total genotype sc

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Varillas Delgado, David, Juan José Tellería Orriols, Diana Monge Martín, and Juan Del Coso. "Genotype scores in energy and iron-metabolising genes are higher in elite endurance athletes than in nonathlete controls." Applied Physiology, Nutrition, and Metabolism 45, no. 11 (2020): 1225–31. http://dx.doi.org/10.1139/apnm-2020-0174.

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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.187

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Khairul, Elin Elisa, Lay Kek Teh, Mohd Zaki Salleh, Raja Mohammed Firhad Raja Azidin, and Sarina Md. Yusof. "ASSOCIATION BETWEEN SPORT RELATED POLYGENIC PROFILE AND MAGNITUDE OF PHYSICAL PERFORMANCES CHANGES FOLLOWING RESISTANCE TRAINING AMONG NOVICE FIELD HOCKEY ATHLETES." Malaysian Journal of Sport Science and Recreation 18, no. 2 (2022): 274–89. http://dx.doi.org/10.24191/mjssr.v18i2.19578.

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Background: Studies have shown that inter-individual variation in response to resistance training is attributed to genetic variation. Aim: To correlate total genotype scores (TGS) with the magnitude of physical performances (skeletal muscle mass, muscular strength, muscular power, performance decrement, and VO2max) change, following 8 weeks of resistance training. Methods: We included forty-five (N=45) participants (age = 16.53 ± .5 years old, body mass = 61.03 ± 6.67 kg, height = 1.67±.05 m) and randomly assigned into; high intensity resistance training (n=15), moderate intensity resistance t

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McAuley, Alexander B. T., David C. Hughes, Loukia G. Tsaprouni, et al. "Genetic Associations With Acceleration, Change of Direction, Jump Height, and Speed in English Academy Football Players." Journal of Strength and Conditioning Research 38, no. 2 (2023): 350–59. http://dx.doi.org/10.1519/jsc.0000000000004634.

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Abstract McAuley, ABT, Hughes, DC, Tsaprouni, LG, Varley, I, Suraci, B, Bradley, B, Baker, J, Herbert, AJ, and Kelly, AL. Genetic associations with acceleration, change of direction, jump height, and speed in English academy football players. J Strength Cond Res 38(2): 350–359, 2024—High-intensity movements and explosive actions are commonly assessed during athlete development in football (soccer). Although many environmental factors underpin these power-orientated traits, research suggests that there is also a sizeable genetic component. Therefore, this study examined the association of 22 si

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Guglielmelli, Paola, Alessandra Carobbio, Elisa Rumi, et al. "Validation of the International Prognostic Score for Thrombosis in Essential Thrombocythemia (IPSET) in Patients with Pre-Fibrotic Primary Myelofibrosis." Blood 134, Supplement_1 (2019): 1657. http://dx.doi.org/10.1182/blood-2019-124302.

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Introduction. Prefibrotic myelofibrosis (pre-PMF) is a unique entity in the 2016 WHO classification of myeloproliferative neoplasms with distinct clinical phenotype and outcome [Guglielmelli P, Blood 2017]. Compared to essential thrombocythemia (ET), pre-PMF is characterized by more pronounced disease manifestations, adverse mutation profile and worse outcome. Previous studies [Rumi E, Oncotarget 2017] showed that patients (pts) with pre-PMF present a risk of vascular events similar to ET. However, no studies performed a comprehensive assessment of risk factors for thrombosis in pre-PMF. The c

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McAuley, Alexander B. T., Ian Varley, Adam J. Herbert, et al. "Maturity-Associated Polygenic Profiles of under 12–16-Compared to under 17–23-Year-Old Male English Academy Football Players." Genes 14, no. 7 (2023): 1431. http://dx.doi.org/10.3390/genes14071431.

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The purpose of this study was to examine polygenic profiles previously associated with maturity timing in male academy football players across different age phases. Thus, 159 male football players from four English academies (U12–16, n = 86, aged 13.58 ± 1.58 years; U17–23, n = 73, aged 18.07 ± 1.69 years) and 240 male European controls were examined. Polygenic profiles comprised 39 single nucleotide polymorphisms and were analysed using unweighted and weighted total genotype scores (TGSs; TWGSs). There were significant differences in polygenic profiles between groups, whereby U17–23 players h

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Lauritzen, Lotte, Ingvild D. Amundsen, Camilla T. Damsgaard, et al. "FADS and PPARG2 Single Nucleotide Polymorphisms are Associated with Plasma Lipids in 9-Mo-Old Infants." Journal of Nutrition 149, no. 5 (2019): 708–15. http://dx.doi.org/10.1093/jn/nxy323.

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ABSTRACT Background Dietary intake of polyunsaturated fatty acids (PUFAs), e.g., linoleic acid and n–3 (ω-3) long-chain PUFAs, has been shown in adults to affect plasma cholesterol and triglycerides (TGs), respectively. Little is known about the effects of PUFAs on plasma lipids in early life. Objective The aim of this study was to explore the associations between plasma concentrations of total, LDL, and HDL cholesterol and TGs in infants and 2 single nucleotide polymorphisms (SNPs) in the fatty acid desaturase genes (FADS) oppositely associated with docosahexaenoic acid (rs1535 and rs174448)

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Lisuzzo, Anastasia, Maria Chiara Alterisio, Elisa Mazzotta, et al. "Metabolic Changes Associated with Different Levels of Energy Deficits in Mediterranean Buffaloes during the Early Lactation Stage: Type and Role of the Main Lipid Fractions Involved." Animals 13, no. 14 (2023): 2333. http://dx.doi.org/10.3390/ani13142333.

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Cell function and energy redistribution are influenced by lipid classes (phospholipids (PLs), free fatty acids (FFAs), triglycerides (TGs), and cholesterol esters (CEs)). The aim of this study was to investigate metabolic alterations that are related to changes in lipid classes according to different levels of energy deficits in early lactating Mediterranean buffaloes (MBs). Sixty-three MBs were enrolled at the beginning of lactation using an observational study with a cross-sectional experimental design. Serum β-hydroxybutyrate (BHB) levels were used to group the animals into a healthy group

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Mohammed, Noaman Ibadi, Zubaida Falih Alzubaidi, and Muneer Khudhair. "THE RELEVANCE OF RS6777038 AND RS6444082 OF IGF2BP2 GENE POLYMORPHISM AND TYPE 2 DIABETES MELLITUS: A CASE CONTROL STUDY." Wiadomości Lekarskie 75, no. 11 (2022): 2811–16. http://dx.doi.org/10.36740/wlek202211215.

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The aim: We investigate IGF2BP2 gene polymorphisms (rs6777038 and rs6444082) association with T2DM of Iraqi sample. Materials and methods: The study involves 800 participants that divided to a healthy control group (400) and T2DM patients (400). Fasting blood sugar (FBS), triglycerides (Tgs), high-density lipoprotein cholesterol (HDL-Ch), total cholesterol (T-Ch), low-density lipoprotein cholesterol (LDL-Ch), and fasting insulin measured for both participant groups. IGF2BP2 gene has been genotyped for polymorphisms, rs6777038 and rs6444082 using the PCR-RFLP technique. Results: Logistic regres

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Abebe, Wuleta Ketema, Habtamu Wodaj Tafari, and Solomon Belay Faris. "Effects of context-based approaches on high school students’ epistemological beliefs." Interdisciplinary Journal of Environmental and Science Education 19, no. 1 (2023): e2301. http://dx.doi.org/10.29333/ijese/12707.

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The current study aimed to examine the effects of context-based approaches on students’ epistemological beliefs. The study used a quasi-experimental pre-post-test design with two treatment groups (TGs) and one comparison group (CG). A total of 131 grade ten students participated in the study. TG 1 received a relating, experiencing, applying, cooperating, and transferring (REACT) strategy of context-based teaching approach, whereas TG 2 received an instruction that was an integration of conventional instruction and context-based approach. Similarly, the CG received conventional instruction to t

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Repchuk, Yuliya, Larysa Sydorchuk, Larysa Fedoniuk, et al. "Association of Lipids’ Metabolism with Vitamin D Receptor (rs10735810, rs222857) and Angiotensinogen (rs699) Genes Polymorphism in Essential Hypertensive Patients." Open Access Macedonian Journal of Medical Sciences 9, A (2021): 1052–56. http://dx.doi.org/10.3889/oamjms.2021.6975.

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BACKGROUND: Cardiovascular (CV) diseases are the most spread cause of mortality in the world. Essential arterial hypertension (EAH), as a major risk factor for the development of CV diseases, is a multifactorial disease involving environmental and genetic factors together with risk-conferring behaviors. AIM: The purpose of this study was to analyze lipid metabolism changes in patients with EAH depending on the Vitamin D receptor (VDR rs2228570 (aka rs10735810)) and angiotensinogen (AGT rs699) genes polymorphism. MATERIALS AND METHODS: The single-stage study involved 100 patients suffering from

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Prather, Jessica M., Christine M. Florez, Amie Vargas, et al. "Impact of CYP1A2 Genotypes on the Ergogenic Effects and Subjective Mood States of Caffeine Ingestion in Resistance-Trained Women." Nutrients 16, no. 16 (2024): 2767. http://dx.doi.org/10.3390/nu16162767.

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Caffeine’s metabolism is determined by CYP1A2 genotypes: AC/CC (SLOW) and AA (FAST). This trial evaluated CYP1A2 genotypes’ impact on exercise and cognitive effects in 36 resistance-trained females assessed under placebo (PL) and caffeine (6 mg/kg bw anhydrous caffeine-CAF) conditions, before ingestion and throughout the session. 23andMe® (San Francisco, CA, USA) determined genotypes using saliva. Data were analyzed using two-way RMANOVA and paired-samples t-tests (p < 0.05). A significant main effect for genotype existed for leg press repetitions to failure (RTF) for CAF (p = 0.038), with

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ATA, YUSUF, and Mustafa Abanoz. "Predictive Roles of Right Coronary Artery Disease Severity and Systemic Immune Inflammation Index in Predicting Atrial Fibrillation After Coronary Bypass Operations in Patients with Right Coronary Artery Disease." Heart Surgery Forum 24, no. 6 (2021): E977—E982. http://dx.doi.org/10.1532/hsf.4279.

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Background: Postoperative atrial fibrillation (PoAF) is observed at a rate of 25-40% in the postoperative period after coronary artery bypass graft (CABG) surgery and can increase mortality, morbidity, and treatment costs. Inflammation and coronary artery disease (CAD) severity are important parameters to predict PoAF. Methods: Patients with right coronary artery (RCA) disease who underwent isolated CABG operation between January 1, 2017 and April 15, 2020, were included in the study retrospectively. Demographic features, preoperative total Gensini score (TGS), right coronary Gensini score (RC

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Kim, Johanna I., Jae-Won Kim, Jong-Eun Park, et al. "Association of the GRIN2B rs2284411 polymorphism with methylphenidate response in attention-deficit/hyperactivity disorder." Journal of Psychopharmacology 31, no. 8 (2016): 1070–77. http://dx.doi.org/10.1177/0269881116667707.

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Objective: We investigated the possible association between two NMDA subunit gene polymorphisms (GRIN2B rs2284411 and GRIN2A rs2229193) and treatment response to methylphenidate (MPH) in attention-deficit/hyperactivity disorder (ADHD). Methods: A total of 75 ADHD patients aged 6–17 years underwent 6 months of MPH administration. Treatment response was defined by changes in scores of the ADHD-IV Rating Scale (ADHD-RS), clinician-rated Clinical Global Impression—Improvement (CGI-I), and Continuous Performance Test (CPT). The association of the GRIN2B and GRIN2A polymorphisms with treatment respo

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Vaes, Laurien, Daisy Rymen, David Cassiman, et al. "Genotype-Phenotype Correlations in PMM2-CDG." Genes 12, no. 11 (2021): 1658. http://dx.doi.org/10.3390/genes12111658.

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PMM2-CDG is a rare disease, causing hypoglycosylation of multiple proteins, hence preventing full functionality. So far, no direct genotype–phenotype correlations have been identified. We carried out a retrospective cohort study on 26 PMM2-CDG patients. We collected the identified genotype, as well as continuous variables indicating the disease severity (based on Nijmegen Pediatric CDG Rating Score or NPCRS) and dichotomous variables reflecting the patients’ phenotype. The phenotypic effects of patients’ genotype were studied using non-parametric and Chi-Square tests. Seventeen different patho

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Vega-Prado, Lorena M., Daniel Vázquez-Coto, Francisco Villazón, et al. "Contribution of Rare and Common APOE Variants to Familial Hypercholesterolemia in Spanish Cohort." Cardiogenetics 15, no. 1 (2025): 3. https://doi.org/10.3390/cardiogenetics15010003.

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Our aim was to determine whether rare APOE pathogenic variants (PV) and the common e2/e3/e4 polymorphism were associated with the risk of familial hypercholesterolemia (FH). A total of 431 patients who met the inclusion criteria for FH were next-generation sequenced for the main candidate genes (LDLR, APOB, PCSK9, APOE, LDLRAP1). A total of 139 patients (32%) had a pathogenic variant, including 3 with APOE p.Leu167del. Among the PV-negatives (n = 292), one was homozygous for APOE-e2 and showed a combined phenotype of high low-density lipoprotein cholesterol (LDL-C) and triglycerides (TGs). A t

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Fang, Kai, Jun Tian, Xueying Qing, et al. "Predictors of Visual Response to Intravitreal Bevacizumab for Treatment of Neovascular Age-Related Macular Degeneration." Journal of Ophthalmology 2013 (2013): 1–9. http://dx.doi.org/10.1155/2013/676049.

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Purpose. To identify the predictors of visual response to the bevacizumab treatment of neovascular age-related macular degeneration (AMD).Design. A cohort study within the Neovascular AMD Treatment Trial Using Bevacizumab (NATTB).Methods. This was a multicenter trial including 144 participants from the NATTB study. Visual outcomes measured by change in visual acuity (VA) score, proportion gaining ≥15 letters, and change in central retinal thickness (CRT) were compared among groups according to the baseline, demographic, and ocular characteristics and genotypes. Results. Mean change in the VA s

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Liang, Zhaoxia, Huikun Liu, Leishen Wang, et al. "Maternal MTNR1B genotype, maternal gestational weight gain, and childhood obesity." American Journal of Clinical Nutrition 111, no. 2 (2019): 360–68. http://dx.doi.org/10.1093/ajcn/nqz296.

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ABSTRACT Background Maternal metabolic abnormalities have been related to offspring obesity especially during childhood. Objectives We analyzed whether the gestational diabetes mellitus (GDM)-associated melatonin receptor 1B (MTNR1B) genotype of mothers modified the relation between maternal gestational weight gain and childhood obesity. Methods A total of 1114 Chinese mother-child pairs (mothers with or without prior GDM) were included. Mothers’ MTNR1B rs10830962 genotype and gestational weight gain were assessed. Indicators of childhood obesity included BMI-for-age z-score, weight-for-age z-

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Shengdong, Chen, Mingjun He, Xiaoli Zhu, et al. "GENOTYPE-SYMPTOMATOLOGY CORRELATION STUDIES IN PATIENTS WITH ANXIETY." International Journal of Research -GRANTHAALAYAH 5, no. 12 (2020): 1–9. http://dx.doi.org/10.29121/granthaalayah.v5.i12.2017.468.

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Projects: To explore the relationship of lncRNAs with altered expression in peripheral blood with symptomatogy in anxiety patients. Methods: Gene microarray was carried on to screen the lncRNAs with altered expressions between anxiety patients (GAD) and healthy people (NC), and qPCR was performed to validate these screened lncRNAs. GAD was assessed by HAMA to analyze differently-expressed lncRNAs and its relationship with symptomatology. Results: 1. The expression levels of PR1-PR10 were positively relayed to psychic anxiety and the total score of HAMA (r=0.187~0.253，P< 0.01 or

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Irawati, Ekamaya Sofa, and Bogi Pratomo. "Correlation Between Fibrosis-4 (FIB-4) Score and Metavir Score of Chronic Hepatitis C (CHC) Patients in Saiful Anwar Hospital Malang." Indonesian Journal of Gastroenterology, Hepatology, and Digestive Endoscopy 20, no. 1 (2020): 23–26. http://dx.doi.org/10.24871/201201923-26.

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Background: Hepatitis C still remain a serious problem in Indonesia lead to increasing prevalence , major morbidity and mortality. Liver biopsy is gold standar, invasive procedure for liver fibrosis staging for treatment monitoring and fibrosis regression. Fibrosis-4 (FIB-4) score has been proposed as a non-invasive, easy, inexpensive as alternative indirect marker for the assessment of liver fibrosis in chronic hepatitis C (CHC).Method: Analytical cross sectional study was conducted among 54 patients with CHC from 2012 -2017 in Saiful Anwar Hospital Malang. Subjects were examined for complete

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Fernandes Júnior, G. A., R. N. B. Lôbo, L. S. Vieira, M. M. Sousa, A. M. B. O. Lôbo, and O. Facó. "Performance and parasite control of different genetic groups of lambs finished in irrigated pasture." Arquivo Brasileiro de Medicina Veterinária e Zootecnia 67, no. 3 (2015): 732–40. http://dx.doi.org/10.1590/1678-4162-7643.

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The aim of this study was to compare the following four genetic groups of hair sheep: Santa Inês (SI), Morada Nova (MN), Brazilian Somali (BS), and the F1 1/2Dorper x 1/2Morada Nova crossbreed on traits related to growth and parasitic infection. Thirty-three male lambs of the same age and of simple birth, under the same pre-weaning management conditions were used in the experiment. After weaning the animals were housed in a completely randomized design in paddocks made of Panicum maximum cv. Tanzania. Along the course of the research, the performance of the four groups of sheep was observed to

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Chen, Shengdong, He Mingjun, Zhu Xiaoli, et al. "GENOTYPE-SYMPTOMATOLOGY CORRELATION STUDIES IN PATIENTS WITH ANXIETY." International Journal of Research - Granthaalayah 5, no. 12 (2017): 1–9. https://doi.org/10.5281/zenodo.1133549.

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<strong>Projects:</strong> To explore the relationship of lncRNAs with altered expression in peripheral blood with symptomatogy in anxiety patients. <strong>Methods:</strong> Gene microarray was carried on to screen the lncRNAs with altered expressions between anxiety patients (GAD) and healthy people (NC), and qPCR was performed to validate these screened lncRNAs. GAD was assessed by HAMA to analyze differently-expressed lncRNAs and its relationship with symptomatology. <strong>Results:</strong> 1. The expression levels of PR1-PR10 were positively relayed to psychic anxiety and the total scor

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Schulze-Krebs, Anja, Fabio Canneva, Judith Stemick, et al. "Transglutaminase 6 Is Colocalized and Interacts with Mutant Huntingtin in Huntington Disease Rodent Animal Models." International Journal of Molecular Sciences 22, no. 16 (2021): 8914. http://dx.doi.org/10.3390/ijms22168914.

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Mammalian transglutaminases (TGs) catalyze calcium-dependent irreversible posttranslational modifications of proteins and their enzymatic activities contribute to the pathogenesis of several human neurodegenerative diseases. Although different transglutaminases are found in many different tissues, the TG6 isoform is mostly expressed in the CNS. The present study was embarked on/undertaken to investigate expression, distribution and activity of transglutaminases in Huntington disease transgenic rodent models, with a focus on analyzing the involvement of TG6 in the age- and genotype-specific pat

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Maroya, Norbert G., Peter Kulakow, Alfred G. O. Dixon, and Busie B. Maziya-Dixon. "Genotype × Environment Interaction of Mosaic Disease, Root Yields and Total Carotene Concentration of Yellow-Fleshed Cassava in Nigeria." International Journal of Agronomy 2012 (2012): 1–8. http://dx.doi.org/10.1155/2012/434675.

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Twenty-one yellow-fleshed cassava genotypes were evaluated over two years in five major cassava growing agroecological zones in Nigeria. The trials were established in a randomized complete block design with four replications to assess genotype performance and Genotype × Environment interaction for cassava mosaic disease (CMD), fresh and dry root yield (FYLD; DYLD), root dry matter content (DMC), and total carotene concentration (TCC). Combined analysis of variance showed significant differences (P<0.001) among genotypes (G), environment (E), and Genotype × Environment interaction (GE) for

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Lipworth, Brian J., Kaninika Basu, Helen P. Donald, et al. "Tailored second-line therapy in asthmatic children with the Arg16 genotype." Clinical Science 124, no. 8 (2013): 521–28. http://dx.doi.org/10.1042/cs20120528.

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The Arg16 β2 receptor genotype confers increased susceptibility to exacerbations in asthmatic children taking regular LABA (long-acting β2 agonists). We therefore evaluated using montelukast as an alternative to salmeterol as tailored second-line asthma controller therapy in children expressing this susceptible genotype. A total of 62 persistent asthmatic children with the homozygous Arg16 genotype were randomized to receive salmeterol (50 μg, b.i.d.) or montelukast (5 or 10 mg, once daily) as an add-on to inhaled fluticasone for 1 year. School absences (the primary outcome) were reduced with

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Cartoni Mancinelli, Alice, Simona Mattioli, Laura Menchetti, et al. "The Assessment of a Multifactorial Score for the Adaptability Evaluation of Six Poultry Genotypes to the Organic System." Animals 11, no. 10 (2021): 2992. http://dx.doi.org/10.3390/ani11102992.

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This study aimed to develop an adaptability score (AS) for chicken strains, which includes behavioral, plumage conditions, and body lesion indicators through a multifactorial approach. A total of 600 male chickens from 6 poultry genotypes—Ranger Classic (R1), Ranger Gold (R2), Rowan Ranger (R3), Hubbard Red JA (A), CY Gen 5 × JA87 (CY), and M22 × JA87 (M)—were reared under organic conditions, fed ad libitum, and individually weighed weekly to calculate the daily weight gain (DWG). The behavioral observations consisted of the explorative attitude (EA), recorded at 21 days, and the behavioral pa

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