Genome-wide association study for genetic variants related with maximal voluntary ventilation reveals two novel genomic signals associated with lung function.
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ABSTRACT:
SUBMITTER: Suh Y
PROVIDER: S-EPMC5682835 | biostudies-literature | 2017 Nov
REPOSITORIES: biostudies-literature
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Genome-wide association study for genetic variants related with maximal voluntary ventilation reveals two novel genomic signals associated with lung function.
Medicine 20171101 44
Genome-wide association studies (GWAS) for spirometry parameters have been limited to forced vital capacity (FVC), forced expiratory volume in 1 second (FEV1), and their ratio. This study examined to identify genetic variants associated with maximal voluntary ventilation (MVV), an important spirometry parameter presenting inspiratory muscle strength.A total of 8842 Korean subjects participated in the Korean Association REsource Consortium were used to identify nucleotide variants associated with ...[more]
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Project description:This project focuses both on the separate and combined effects of large tidal volume ventilation and hyperoxia on gene expression in the lungs of anesthetized rats. Rats were either mechanically or spontaneously ventilated at either 21 or 100% oxygen and expression levels were evaluated on RG_U34 GeneChips. Keywords: other
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Project description:Purpose:To evaluate the concordance between the value of the actual maximum voluntary ventilation (MVV) and the estimated value by multiplying the forced expiratory volume in the first second (FEV1) and a different value established in the literature. Methods:A retrospective study was conducted with healthy subjects and patients with stable chronic obstructive pulmonary disease (COPD). Five prediction formulas MVV were used for the comparison with the MVV values. Agreement between MVV measured and MVV obtained from five prediction equations were studied. FEV1 values were used to estimate MVV. Correlation and agreement analysis of the values was performed in two groups using the Pearson test and the Bland-Altman method; these groups were one group with 207 healthy subjects and the second group with 83 patients diagnosed with COPD, respectively. Results:We recruited 207 healthy subjects (105 women, age 47 ± 17 years) and 83 COPD patients (age 66 ± 6 years; 29 GOLD II, 30 GOLD III, and 24 GOLD IV) for the study. All prediction equations presented a significant correlation with the MVV value (from 0.38 to 0.86, p < 0.05) except for the GOLD II subgroup, which had a poor agreement with measured MVV. In healthy subjects, the mean difference of the value of bias (and limits of agreement) varied between -3.9% (-32.8 to 24.9%), and 27% (-1.4 to 55.3%). In COPD patients, the mean difference of value of bias (and limits of agreement) varied between -4.4% (-49.4 to 40.6%), and 26.3% (-18.3 to 70.9%). The results were similar in the subgroup analysis. Conclusion:The equations to estimate the value of MVV present a good degree of correlation with the real value of MVV, but they also show a poor concordance. For this reason, we should not use the estimated results as a replacement for the real value of MVV.
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Project description:BackgroundSacubitril/valsartan had its prognosis benefit confirmed in the PARADIGM-HF trial. However, data on cardiopulmonary exercise testing (CPET) changes with sacubitril-valsartan therapy are scarce.ObjectiveThis study aimed to compare CPET parameters before and after sacubitril-valsartan therapy.MethodsProspective evaluation of chronic heart failure (HF) patients with left ventricular ejection fraction ≤40% despite optimized standard of care therapy, who started sacubitril-valsartan therapy, expecting no additional HF treatment. CPET data were gathered in the week before and 6 months after sacubitril-valsartan therapy. Statistical differences with a p-value <0.05 were considered significant.ResultsOut of 42 patients, 35 (83.3%) completed the 6-month follow-up, since 2 (4.8%) patients died and 5 (11.9%) discontinued treatment for adverse events. Mean age was 58.6±11.1 years. New York Heart Association class improved in 26 (74.3%) patients. Maximal oxygen uptake (VO2max) (14.4 vs. 18.3 ml/kg/min, p<0.001), VE/VCO2slope (36.7 vs. 31.1, p<0.001), and exercise duration (487.8 vs. 640.3 sec, p<0.001) also improved with sacubitril-valsartan. Benefit was maintained even with the 24/26 mg dose (13.5 vs. 19.2 ml/kg/min, p=0.018) of sacubitril-valsartan, as long as this was the highest tolerated dose.ConclusionsSacubitril-valsartan therapy is associated with marked CPET improvement in VO2max, VE/VCO2slope, and exercise duration. (Arq Bras Cardiol. 2020; [online].ahead print, PP.0-0).
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Project description:BackgroundDifferent field tests are used to evaluate muscle capacity, in particular maximal voluntary isometric endurance. However, although there are some normative values for a few muscle endurance tests, these do not consider the weight, height, gender, or age of individuals, which are well-known factors that influence muscle performance.Hypothesis/purposeThe purpose of this study was to investigate the test-retest reproducibility of eight field tests and establish muscle endurance norms, in a healthy population, based on their anthropometric characteristics, which could allow the optimal evaluation of the entire muscle function in a quick manner.DesignCase series.MethodsThis study was conducted in two phases. The first phase was to check the reproducibility inter- and intra-assessor for eight isometric muscle field tests on 20 volunteer subjects aged 40.9 ± 11.6 years old (age range, 21-58 years). The second part was to establish muscle maximal voluntary isometric endurance norms according to these tests on a total of 400 healthy participants grouped by age (50 males and females in each of the age brackets, 20-29; 30-39; 40-49; 50-59 years old, for a total of 200 males and 200 females).ResultsThe intra- and inter-assessor reproducibility tests are good for all muscle measurements (the intraclass correlation coefficients varied between 0.915 and 0.996 and the coefficient of variation between 3.6 and 11.8%). The area under the receiver operating characteristic curves demonstrates a good sensibility with values greater than 0.7 for each test. Each muscle belt presents same ratio regardless of the age and gender group. The simultaneous multiple regression analyses highlight that the anthropometric characteristics of subjects influence significantly the performance of isometric tests.ConclusionThis study has permitted establishing prediction equations in a healthy population according to their anthropometric characteristics as well as agonist/antagonist ratios for eight muscle isometric field tests after demonstrating a good reproducibility of all tests.
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Project description:Structural variants (SVs) are variants with sizes bigger than 50 base pairs and capable of changing the size, copy number, location, orientation, and sequence content of genomic DNA. Although these variants have been proven to be extensive and involved in many evolutionary processes along the tree of life, there is still insufficient information on many fungal plant pathogens. In this study, the extent of SVs, as well as single nucleotide polymorphisms (SNPs), have been determined for two prominent species of the Monilinia genus (the causal agents of brown rot disease in pome and stone fruits): M. fructicola and M. laxa for the first time. The genomes of M. fructicola were found to be more variant-rich in contrast to M. laxa based on the reference-based variant calling (with a total number of 266.618 and 190.599 SNPs; 1540 and 918 SVs, respectively). The extent, as well as distribution of SVs, presented high conservation within the species and high diversity between the species. Investigation of potential functional effects of characterized variants revealed high potential relevance of SVs. Moreover, the detailed characterization of copy number variations (CNVs) for each isolate revealed that around 0.67% of M. fructicola genomes and 2.06% of M. laxa genomes are CN variables. The variant catalog as well as distinct variant dynamics within and between the species presented in this study opens doors for many further research questions.
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Project description:Heterochromatin protein 1 (HP1) is a major component of heterochromatin. It was reported to bind to a large number of genes and to many, but not all, transposable elements (TEs). The genomic signals responsible for targeting of HP1 have remained elusive. Here, we use whole-genome and computational approaches to identify genomic features that are predictive of HP1 binding in Drosophila melanogaster. We show that genes in repeat-dense regions are more likely to be bound by HP1, particularly in pericentric chromosomal regions. We also demonstrate that TEs are only bound by HP1 if they are flanked by other repeats, suggesting a cooperative mechanism of binding. Genome-wide DamID mapping of HP1 in larvae and adult flies reveals that repeat-flanked genes typically bind HP1 throughout development, whereas repeat-free genes display developmentally dynamic HP1 association. Furthermore, computational analysis shows that HP1 preferentially binds to transcribed regions of long genes. Finally, we detect low but significant amounts of HP1 along the entire X chromosome in male, but not female, flies, suggesting a link between HP1 and the dosage compensation complex. These results provide insights into the mechanisms of HP1 targeting in the natural genomic context.
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Project description:Many Drosophila species differ widely in their distributions and climate niches, making them excellent subjects for evolutionary genomic studies. Here, we have developed a database of high-quality assemblies for 46 Drosophila species and one closely related Zaprionus. Fifteen of the genomes were newly sequenced, and 20 were improved with additional sequencing. New or improved annotations were generated for all 47 species, assisted by new transcriptomes for 19. Phylogenomic analyses of these data resolved several previously ambiguous relationships, especially in the melanogaster species group. However, it also revealed significant phylogenetic incongruence among genes, mainly in the form of incomplete lineage sorting in the subgenus Sophophora but also including asymmetric introgression in the subgenus Drosophila. Using the phylogeny as a framework and taking into account these incongruences, we then screened the data for genome-wide signals of adaptation to different climatic niches. First, phylostratigraphy revealed relatively high rates of recent novel gene gain in three temperate pseudoobscura and five desert-adapted cactophilic mulleri subgroup species. Second, we found differing ratios of nonsynonymous to synonymous substitutions in several hundred orthologues between climate generalists and specialists, with trends for significantly higher ratios for those in tropical and lower ratios for those in temperate-continental specialists respectively than those in the climate generalists. Finally, resequencing natural populations of 13 species revealed tropics-restricted species generally had smaller population sizes, lower genome diversity and more deleterious mutations than the more widespread species. We conclude that adaptation to different climates in the genus Drosophila has been associated with large-scale and multifaceted genomic changes.
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Project description:Background:This study aimed to identify which maximum voluntary isometric contraction (MVIC) and sub-MVIC tests produce the highest activation of the erector spinae muscles and the greatest reduction in inter-individual variability, to put them forward as reference normalization maneuvers for future studies. Methods:Erector spinae EMG activity was recorded in 38 healthy women during five submaximal and three maximal exercises. Results:None of the three MVIC tests generated the maximal activation level in all the participants. The maximal activation level was achieved in 68.4% of cases with the test performed on the roman chair in the horizontal position (96.3 ± 7.3; p < 0.01). Of the five submaximal maneuvers, the one in the horizontal position on the roman chair produced the highest percentage of activation (61.1 ± 16.7; p < 0.01), and one of the lowest inter-individual variability values in the normalized signal of a trunk flexion-extension task. Conclusions:A modified Sorensen MVIC test in a horizontal position on a roman chair and against resistance produced the highest erector spinae activation, but not in 100% of participants, so the execution of several normalization maneuvers with the trunk at different inclinations should be considered to normalize the erector spinae EMG signal. A modified Sorensen test in a horizontal position without resistance is the submaximal maneuver that produces the highest muscle activation and the greatest reduction in inter-individual variability, and could be considered a good reference test for normalization.
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Project description:Nordic hamstring exercise is performed to prevent knee flexor muscle strain injuries and used to assess their injury risks. However, what exactly Nordic hamstring strength indicates is not clear. We investigated the relationship between Nordic hamstring strength and maximal voluntary contraction (MVC) torque of the knee flexors measured by an isokinetic dynamometer. Sixteen healthy young men who had not experienced hamstring strain injuries participated in the study. In Nordic hamstring, each participant was instructed to lean forward as far as possible in 3 s (approximately 30°/s), and force at the ankle joint of the dominant leg was measured during the movement. The force was multiplied by lower leg length and converted into torque. MVC torque of the knee flexors was measured isometrically at 30°, 45°, 60°, and 90° knee flexion joint angles, and concentrically and eccentrically at 30°/s and 60°/s in 10°-90° knee flexion for the dominant leg in a prone position. Correlations among the dependent variables were assessed using Pearson's correlation coefficients. Peak Nordic hamstring torque ranged 96.8-163.5 Nm, and peak MVC eccentric torque ranged 50.7-109.4 Nm at 30°/s and 59.2-121.2 Nm at 60°/s. No significant correlations were evident between the peak Nordic hamstring torque and peak eccentric knee flexion torque (r = 0.24-0.3, p = 0.26-0.4). This was also the case for the Nordic hamstring torque and MVC torque of isometric (r = -0.03-0.1, p = 0.71-0.92) and concentric contractions (r = 0.28-0.49, p = 0.053-0.29). These results show that Nordic hamstring strength is not associated with the knee flexor torque measured by an isokinetic dynamometer. It may be that other factors than static and dynamic hamstring strengths affect Nordic hamstring strength.
| S-EPMC8880649 | biostudies-literature
Project description:BackgroundTwo recent large randomized controlled trials did not show the superiority of high-frequency oscillatory ventilation (HFOV) in adults with ARDS. These two trials had differing results, and possible causes could be the different oscillators used and their different settings, including inspiratory time % (IT%). The aims of this study were to obtain basic data about the ventilation characteristics in two adult oscillators and to elucidate the effect of the oscillator and IT% on ventilation efficiency.MethodsThe Metran R100 or SensorMedics 3100B was connected to an original lung model internally equipped with a simulated bronchial tree. The actual stroke volume (aSV) was measured with a flow sensor placed at the Y-piece. Carbon dioxide (CO2) was continuously insufflated into the lung model ([Formula: see text]CO2), and the partial pressure of CO2 (PCO2) in the lung model was monitored. Alveolar ventilation ([Formula: see text]A; L/min) was estimated as [Formula: see text]CO2 divided by the stabilized value of PCO2. [Formula: see text]A was evaluated with several stroke volume settings in the R100 (IT = 50%) or several airway pressure amplitude settings in the 3100B (IT = 33%, 50%) at a frequency of 6 and 8 Hz, a mean airway pressure of 25 cmH2O, and a bias flow of 30 L/min. Assuming that [Formula: see text]A = frequencya × aSVb, values of a and b were determined. Ventilation efficiency was calculated as [Formula: see text]A divided by actual minute ventilation.ResultsThe relationship between aSV and [Formula: see text]A or ventilation efficiency were different depending on the oscillator and IT%. The values of a and b were 0 < a < 1 and 1 < b < 2 and were different for three conditions at both frequencies. [Formula: see text]A and ventilation efficiency were highest with R100 (IT = 50%) and lowest with 3100B (IT = 33%) for high aSV ranges at both frequencies.ConclusionsIn this lung model study, ventilation characteristics were different depending on the oscillator and IT%. Ventilation efficiency was highest with R100 (IT = 50%) and lowest with 3100B (IT = 33%) for high aSV ranges.
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