title: PeerJ description: Articles published in PeerJ link: https://peerj.com/articles/index.rss3?journal=peerj&page=509 creator: info@peerj.com PeerJ errorsTo: info@peerj.com PeerJ language: en title: Assessment of multi-population polygenic risk scores for lipid traits in African Americans link: https://peerj.com/articles/14910 last-modified: 2023-05-16 description: Polygenic risk scores (PRS) based on genome-wide discoveries are promising predictors or classifiers of disease development, severity, and/or progression for common clinical outcomes. A major limitation of most risk scores is the paucity of genome-wide discoveries in diverse populations, prompting an emphasis to generate these needed data for trans-population and population-specific PRS construction. Given diverse genome-wide discoveries are just now being completed, there has been little opportunity for PRS to be evaluated in diverse populations independent from the discovery efforts. To fill this gap, we leverage here summary data from a recent genome-wide discovery study of lipid traits (HDL-C, LDL-C, triglycerides, and total cholesterol) conducted in diverse populations represented by African Americans, Hispanics, Asians, Native Hawaiians, Native Americans, and others by the Population Architecture using Genomics and Epidemiology (PAGE) Study. We constructed lipid trait PRS using PAGE Study published genetic variants and weights in an independent African American adult patient population linked to de-identified electronic health records and genotypes from the Illumina Metabochip (n = 3,254). Using multi-population lipid trait PRS, we assessed levels of association for their respective lipid traits, clinical outcomes (cardiovascular disease and type 2 diabetes), and common clinical labs. While none of the multi-population PRS were strongly associated with the tested trait or outcome, PRSLDL-Cwas nominally associated with cardiovascular disease. These data demonstrate the complexity in applying PRS to real-world clinical data even when data from multiple populations are available. creator: Domenica E. Drouet creator: Shiying Liu creator: Dana C. Crawford uri: https://doi.org/10.7717/peerj.14910 license: https://creativecommons.org/licenses/by/4.0/ rights: ©2023 Drouet et al. title: Identification of immune-related genes in acute myocardial infarction based on integrated bioinformatical methods and experimental verification link: https://peerj.com/articles/15058 last-modified: 2023-05-16 description: BackgroundAcute myocardial infarction (AMI) is one of the leading causes of death worldwide. The etiology of AMI is complex and has not been fully defined. In recent years, the role of immune response in the development, progression and prognosis of AMI has received increasing attention. The aim of this study was to identify key genes associated with the immune response in AMI and to analyze their immune infiltration.MethodsThe study included a total of two GEO databases, containing 83 patients with AMI and 54 healthy individuals. We used the linear model of microarray data (limma) package to find the differentially expressed genes associated with AMI, performing weighted gene co-expression analysis (WGCNA) to further identify the genes associated with inflammatory response to AMI. We found the final hub genes through the protein-protein interaction (PPI) network and least absolute shrinkage and selection operator (LASSO) regression model. To verify the above conclusions, we constructed mice AMI model, extracting myocardial tissue to perform qRT-PCR. Furthermore, the CIBERSORT tool for immune cells infiltration analysis was also carried out.ResultsA total of 5,425 significant up-regulated and 2,126 down-regulated genes were found in GSE66360 and GSE24519. A total of 116 immune-related genes in close association with AMI were screened by WGCNA analysis. These genes were mostly clustered in the immune response on the basis of GO and KEGG enrichment. With construction of PPI network and LASSO regression analysis, this research found three hub genes (SOCS2, FFAR2, MYO10) among these differentially expressed genes. The immune cell infiltration results revealed that significant differences could be found on T cells CD4 memory activated, Tregs (regulatory T cells), macrophages M2, neutrophils, T cells CD8, T cells CD4 naive, eosinophils between controls and AMI patients. creator: Jian Liu creator: Lu Chen creator: Xiang Zheng creator: Caixia Guo uri: https://doi.org/10.7717/peerj.15058 license: https://creativecommons.org/licenses/by/4.0/ rights: ©2023 Liu et al. title: Microbial biomarker detection in shrimp larvae rearing water as putative bio-surveillance proxies in shrimp aquaculture link: https://peerj.com/articles/15201 last-modified: 2023-05-16 description: BackgroundAquacultured animals are reared in water hosting various microorganisms with which they are in close relationships during their whole lifecycle as some of these microorganisms can be involved in their host’s health or physiology. In aquaculture hatcheries, understanding the interactions existing between the natural seawater microbiota, the rearing water microbiota, the larval stage and the larval health status, may allow the establishment of microbial proxies to monitor the rearing ecosystems. Indeed, these proxies could help to define the optimal microbiota for shrimp larval development and could ultimately help microbial management.MethodsIn this context, we monitored the daily composition of the active microbiota of the rearing water in a hatchery of the Pacific blue shrimp Penaeus stylirostris. Two distinct rearing conditions were analyzed; one with antibiotics added to the rearing water and one without antibiotics. During this rearing, healthy larvae with a high survival rate and unhealthy larvae with a high mortality rate were observed. Using HiSeq sequencing of the V4 region of the 16S rRNA gene of the water microbiota, coupled with zootechnical and statistical analysis, we aimed to distinguish the microbial taxa related to high mortality rates at a given larval stage.ResultsWe highlight that the active microbiota of the rearing water is highly dynamic whatever the larval survival rate. A clear distinction of the microbial composition is shown between the water harboring heathy larvae reared with antibiotics versus the unhealthy larvae reared without antibiotics. However, it is hard to untangle the effects of the antibiotic addition and of the larval death on the active microbiota of the rearing water. Various active taxa of the rearing water are specific to a given larval stage and survival rate except for the zoea with a good survival rate. Comparing these communities to those of the lagoon, it appears that many taxa were originally detected in the natural seawater. This highlights the great importance of the microbial composition of the lagoon on the rearing water microbiota. Considering the larval stage and larval survival we highlight that several genera: Nautella, Leisingera, Ruegerira, Alconivorax, Marinobacter and Tenacibaculum, could be beneficial for the larval survival and may, in the rearing water, overcome the r-strategist microorganisms and/or putative pathogens. Members of these genera might also act as probiotics for the larvae. Marivita, Aestuariicocccus, HIMB11 and Nioella, appeared to be unfavorable for the larval survival and could be associated with upcoming and occurring larval mortalities. All these specific biomarkers of healthy or unhealthy larvae, could be used as early routine detection proxies in the natural seawater and then during the first days of larval rearing, and might help to manage the rearing water microbiota and to select beneficial microorganisms for the larvae. creator: Nolwenn Callac creator: Carolane Giraud creator: Viviane Boulo creator: Nelly Wabete creator: Dominique Pham uri: https://doi.org/10.7717/peerj.15201 license: https://creativecommons.org/licenses/by/4.0/ rights: ©2023 Callac et al. title: Antibiotic resistance characteristics and risk factors analysis of Helicobacter pylori strains isolated from patients in Liaoning Province, an area in North China link: https://peerj.com/articles/15268 last-modified: 2023-05-16 description: BackgroundThe prevalence of Helicobacter pylori (H. pylori) keeps rising while the eradication rate continues to decline due to the increasing antibiotic resistance. Regional variations of antimicrobial resistance to H. pylori have been recommended by guidelines in recent years. This study aims to investigate the antibiotic resistance rate of H. pylori and its association with infected subjects’ characteristics in Liaoning Province, an area in north China.MethodsGastric tissues from 178 H. pylori positive participants without previous antibiotic use within four weeks were collected for H. pylori culture. Antibiotic susceptibility to furazolidone (AOZ), tetracycline (TC), levofloxacin (LFX), metronidazole (MET), clarithromycin (CLA), and amoxicillin (AMX) were examined with the agar dilution method. Associations between H. pylori resistance and patient characteristics were further analysed.ResultsNo resistance was observed in AOZ or TC. For LFX, MET, CLA, and AMX, the overall resistance rates were 41.10%, 79.14%, 71.78%, and 22.09% respectively. There were significant differences between resistance to CLA and MALToma (P = 0.021), and between resistance to MET and age (P < 0.001).ConclusionsThe primary resistant rates of LEX, MET, CLA, and AMX were relatively high in Liaoning. Treatment effectiveness improvement could be achieved by prior antimicrobial susceptibility tests before antibiotic prescription. creator: Yanmeng Wang creator: Yiling Li creator: Yuehua Gong creator: Yuzhen Dong creator: Jing Sun creator: Moye Chen uri: https://doi.org/10.7717/peerj.15268 license: https://creativecommons.org/licenses/by/4.0/ rights: ©2023 Wang et al. title: Karst grassland forage quality and its determinants in Guizhou Province of Southwest China link: https://peerj.com/articles/15323 last-modified: 2023-05-16 description: Forage quality is a key property of grassland ecosystems. In this study, grassland forage qualities were measured at 373 sampling sites throughout Guizhou Province in the karst mountain region of Southwest China, and the factors affecting it were explored. The forage quality level of most plant species was categorized into four levels: (1) preferred forage species; (2) desirable forage species; (3) consumed but undesirable forage species; and (4) non-consumable or toxic forage species. High temperature and precipitation appeared to facilitate the growth of preferred forage species, but limited the growth of other plants. Increasing soil pH had a positive impact on the number and biomass of preferred forage plants, but a negative influence on other plants, especially non-consumable or toxic plants. Both GDP and population density had a positive correlation with the number and biomass of preferred forage species, while such correlations for other levels of forage species tended to be negative. Grazing could lead to a decrease in the preferred forage species. Therefore, it is suggested that by focusing on soil improvement in grassland and maintaining an appropriate grazing intensity, global warming and rapid economic growth in Guizhou Province will likely contribute to increase the forage quality of karst grasslands in Southwest China. creator: Dengming He creator: Baocheng Jin creator: Xuechun Zhao creator: Hua Cheng creator: Chao Chen creator: Huanhuan Wang creator: Jinping Zhang creator: Yaoyao Zhang creator: Qin Yang creator: Kun Liu creator: Min Han creator: Zhongcai Li creator: Jing Peng uri: https://doi.org/10.7717/peerj.15323 license: https://creativecommons.org/licenses/by/4.0/ rights: ©2023 He et al. title: Prognostic significance of thyroid hormone T3 in patients with septic shock: a retrospective cohort study link: https://peerj.com/articles/15335 last-modified: 2023-05-16 description: BackgroundThe role of thyroid hormones is crucial in the response to stress and critical illness, which has been reported to be closely associated with a poor prognosis in patients admitted to the intensive care unit (ICU). This study aimed to explore the relationship between thyroid hormone and prognosis in septic shock patients.MethodsA total of 186 patients with septic shock were enrolled in the analytical study between December 2014 and September 2022. The baseline variables and thyroid hormone were collected. The patients were divided into survivor group and non-survivor group according to whether they died during the ICU hospitalization. Among 186 patients with septic shock, 123 (66.13%) were in the survivor group and 63 (33.87%) were in the non-survivor group.ResultsThere were significant differences in the indictors of free triiodothyronine (FT3) (p = 0.000), triiodothyronine (T3) (p = 0.000), T3/FT3 (p = 0.000), acute physiology and chronic health evaluation II score (APACHE II) (p = 0.000), sequential organ failure assessment score (SOFA) (p = 0.000), pulse rate (p = 0.020), creatinine (p = 0.008), PaO2/FiO2 (p = 0.000), length of stay (p = 0.000) and hospitalization expenses (p = 0.000) in ICU between the two groups. FT3 [odds ratio (OR): 1.062, 95% confidence interval(CI): (0.021, 0.447), p = 0.003], T3 (OR: 0.291, 95% CI: 0.172-0.975, p = 0.037) and T3/FT3 (OR: 0.985, 95% CI:0.974-0.996, p = 0.006) were independent risk factors of the short-term prognosis of septic shock patients after adjustment. The areas under the receiver operating characteristic curves for T3 was associated with ICU mortality (AUC = 0.796, p < 0.05) and was higher than that for FT3 (AUC = 0.670, p < 0.05) and T3/FT3 (AUC = 0.712, p < 0.05). A Kaplan-Meier curve showed that patients with T3 greater than 0.48 nmol/L had a significantly higher survival rate than the patients with T3 less than 0.48 nmol/L.ConclusionsThe decrease in serum level of T3 in patients with septic shock is associated with ICU mortality. Early detection of serum T3 level could help clinicians to identify septic shock patients at high risk of clinical deterioration. creator: Caizhi Sun creator: Lei Bao creator: Lei Guo creator: Jingjing Wei creator: Yang Song creator: Hua Shen creator: Haidong Qin uri: https://doi.org/10.7717/peerj.15335 license: https://creativecommons.org/licenses/by/4.0/ rights: ©2023 Sun et al. title: New genicular joint angle criteria for flexor muscle (Musculus Semimembranosus) during the terrestrial mammals walking link: https://peerj.com/articles/15379 last-modified: 2023-05-16 description: BackgroundThe genicular or knee joint angles of terrestrial mammals remain constant during the stance phase of walking; however, the angles differ among taxa. The knee joint angle is known to correlate with taxa and body mass among extant mammals, yet several extinct mammals, such as desmostylians, do not have closely related descendants. Furthermore, fossils lose their soft tissues by the time they are unearthed, making body mass estimates difficult. These factors cause significant problems when reconstructing the proper postures of extinct mammals. Terrestrial mammals use potential and kinetic energy for locomotion; particularly, an inverted pendulum mechanism is used for walking. This mechanism requires maintaining the rod length constant, therefore, terrestrial mammals maintain their joint angle in a small range. A muscle reaction referred to as co-contraction is known to increase joint stiffness; both the agonist and antagonist muscles work simultaneously on the same joint at the same time. The musculus semimembranosus flexes the knee joint and acts as an antagonist to muscles that extend it.MethodsTwenty-one species of terrestrial mammals were examined to identify the elements that constitute the angle between the m. semimembranosus and the tibia based on the period between the hindlimb touching down and taking off from the ground. Measurements were captured from videos in high-speed mode (420 fps), selecting 13 pictures from the first 75% of each video while the animals were walking. The angles between the main force line of the m. semimembranosus and the tibia, which were defined as θsm−t, were measured.ResultsThe maximum and minimum angles between the m. semimembranosus and the tibia (θsm−t) of the stance instance (SI) were successfully determined for more than 80% of the target animals (17 out of 21 species) during SI-1 to SI-13 within ±10° from the mean. The difference between each successive SI was small and, therefore, the θsm−t transition was smooth. According to the results of the total stance differences among the target animals, θsm−t was relatively constant during a stance and, therefore, average θsm−t (θave) can represent each animal. Only Carnivora had a significant difference in the correlation between body mass and θave. In addition, there were significant differences in θave between plantigrade and unguligrade locomotion.ConclusionOur measurements show that θave was 100 ± 10° regardless taxon, body mass, and locomotor mode. Thus, only three points on skeletons need to be measured to determine θave. This offers a new approximation approach for understanding hindlimb posture that could be applied to the study of the hindlimbs of extinct mammals with no closely related extant descendants. creator: Fumihiro Mizuno creator: Naoki Kohno uri: https://doi.org/10.7717/peerj.15379 license: https://creativecommons.org/licenses/by/4.0/ rights: © 2023 Mizuno and Kohno title: Autistic traits are associated with individual differences in finger tapping: an online study link: https://peerj.com/articles/15406 last-modified: 2023-05-16 description: In a novel online study, we explored whether finger tapping differences are evident in people with autistic traits in the general population. We hypothesised that those with higher autistic traits would show more impairment in finger tapping, and that age would moderate tapping output. The study included a non-diagnosed population of 159 participants aged 18–78 who completed an online measure of autistic traits (the AQ-10) and a measure of finger tapping (the FTT). Results showed those with higher AQ-10 scores recorded lower tapping scores in both hands. Moderation analysis showed younger participants with more autistic traits recorded lower tapping scores for the dominant hand. This suggests motor differences seen in autism studies are evident in the general population. creator: Alycia Messing creator: Deborah Apthorp uri: https://doi.org/10.7717/peerj.15406 license: https://creativecommons.org/licenses/by/4.0/ rights: © 2023 Messing and Apthorp title: Impact of mini-driver genes in the prognosis and tumor features of colorectal cancer samples: a novel perspective to support current biomarkers link: https://peerj.com/articles/15410 last-modified: 2023-05-16 description: BackgroundColorectal cancer (CRC) is the second leading cause of cancer-related deaths, and its development is associated with the gains and/or losses of genetic material, which leads to the emergence of main driver genes with higher mutational frequency. In addition, there are other genes with mutations that have weak tumor-promoting effects, known as mini-drivers, which could aggravate the development of oncogenesis when they occur together. The aim of our work was to use computer analysis to explore the survival impact, frequency, and incidence of mutations of possible mini-driver genes to be used for the prognosis of CRC.MethodsWe retrieved data from three sources of CRC samples using the cBioPortal platform and analyzed the mutational frequency to exclude genes with driver features and those mutated in less than 5% of the original cohort. We also observed that the mutational profile of these mini-driver candidates is associated with variations in the expression levels. The candidate genes obtained were subjected to Kaplan–Meier curve analysis, making a comparison between mutated and wild-type samples for each gene using a p-value threshold of 0.01.ResultsAfter gene filtering by mutational frequency, we obtained 159 genes of which 60 were associated with a high accumulation of total somatic mutations with Log2 (fold change) > 2 and p values < 10−5. In addition, these genes were enriched to oncogenic pathways such as epithelium-mesenchymal transition, hsa-miR-218-5p downregulation, and extracellular matrix organization. Our analysis identified five genes with possible implications as mini-drivers: DOCK3, FN1, PAPPA2, DNAH11, and FBN2. Furthermore, we evaluated a combined classification where CRC patients with at least one mutation in any of these genes were separated from the main cohort obtaining a p-value < 0.001 in the evaluation of CRC prognosis.ConclusionOur study suggests that the identification and incorporation of mini-driver genes in addition to known driver genes could enhance the accuracy of prognostic biomarkers for CRC. creator: Anthony Vladimir Campos Segura creator: Mariana Belén Velásquez Sotomayor creator: Ana Isabel Flor Gutiérrez Román creator: César Alexander Ortiz Rojas creator: Alexis Germán Murillo Carrasco uri: https://doi.org/10.7717/peerj.15410 license: https://creativecommons.org/licenses/by/4.0/ rights: © 2023 Campos Segura et al. title: Functional and comparative analysis of THI1 gene in grasses with a focus on sugarcane link: https://peerj.com/articles/14973 last-modified: 2023-05-15 description: De novo synthesis of thiamine (vitamin B1) in plants depends on the action of thiamine thiazole synthase, which synthesizes the thiazole ring, and is encoded by the THI1 gene. Here, we investigated the evolution and diversity of THI1 in Poaceae, where C4 and C3 photosynthetic plants co-evolved. An ancestral duplication of THI1 is observed in Panicoideae that remains in many modern monocots, including sugarcane. In addition to the two sugarcane copies (ScTHI1-1 and ScTHI1-2), we identified ScTHI1-2 alleles showing differences in their sequence, indicating divergence between ScTHI1-2a and ScTHI1-2b. Such variations are observed only in the Saccharum complex, corroborating the phylogeny. At least five THI1 genomic environments were found in Poaceae, two in sugarcane, M. sinensis, and S. bicolor. The THI1 promoter in Poaceae is highly conserved at 300 bp upstream of the start codon ATG and has cis-regulatory elements that putatively bind to transcription factors associated with development, growth, development and biological rhythms. An experiment set to compare gene expression levels in different tissues across the sugarcane R570 life cycle showed that ScTHI1-1 was expressed mainly in leaves regardless of age. Furthermore, ScTHI1 displayed relatively high expression levels in meristem and culm, which varied with the plant age. Finally, yeast complementation studies with THI4-defective strain demonstrate that only ScTHI1-1 and ScTHI1-2b isoforms can partially restore thiamine auxotrophy, albeit at a low frequency. Taken together, the present work supports the existence of multiple origins of THI1 harboring genomic regions in Poaceae with predicted functional redundancy. In addition, it questions the contribution of the levels of the thiazole ring in C4 photosynthetic plant tissues or potentially the relevance of the THI1 protein activity. creator: Henrique Moura Dias creator: Andreia Prata Vieira creator: Erika Maria de Jesus creator: Nathalia de Setta creator: Gesiele Barros creator: Marie-Anne Van Sluys uri: https://doi.org/10.7717/peerj.14973 license: https://creativecommons.org/licenses/by/4.0/ rights: © 2023 Moura Dias et al.