280 Results Found

Tens of thousands of single-nucleotide polymorphisms (SNPs) have been identified to be significantly associated with metabolite abundance in over 65 genome-wide association studies with metabolomics (mGWAS) to date. Obtaining mechanistic or functiona...

Age-related macular degeneration (AMD) has been implicated as a risk factor for severe consequences from COVID-19. We evaluated the genetic architecture shared between AMD and COVID-19 (critical illness, hospitalization, and infections) using analyse...

Exercise is increasingly recognized as an effective strategy to counteract skeletal muscle aging and conditions such as sarcopenia. However, the specific exercise-induced genes responsible for these protective effects remain unclear. To address this,...

Background: While diabetes is a recognized risk factor for asthma, the shared genetic components between diabetes/glycemic traits and asthma remain unclear. This study investigates the genetic associations, causal relationships, and underlying mechan...

Background: The objective was to evaluate the association of the hypertriglyceridemic waist (HTGW) phenotype with prediabetes and diabetes (DM) in rural Chinese population. Methods: In a cross-sectional study, 11,579 adults (5361 men and 6218 women)...

The relationship between circulating metabolites and sarcopenia-related phenotypes remains unclear. We explored the causality between circulating metabolites and sarcopenia-related phenotypes. Instrumental variables for the human metabolome were deri...

The embryonic zebrafish is a useful vertebrate model for assessing the effects of substances on growth and development. However, cross-laboratory developmental toxicity outcomes can vary and reported developmental defects in zebrafish may not be dire...

Longitudinal data enables detecting the effect of aging/time, and as a repeated measures design is statistically more efficient compared to cross-sectional data if the correlations between repeated measurements are not large. In particular, when geno...

Background: The primary objective of this study was to explore the association of hypertriglyceridemic waist (HTGW) phenotype with chronic kidney disease (CKD) and its sex difference in an urban Chinese elderly population. Methods: In a cross-section...

Understanding gene functions and their associated abnormal phenotypes is crucial in the prevention, diagnosis and treatment against diseases. The Human Phenotype Ontology (HPO) is a standardized vocabulary for describing the phenotype abnormalities a...

Musculoskeletal pain (MSP), specifically low back pain (LBP), is often associated with several adipose tissue-derived cytokines (adipokines) and body composition, but their correlations with the LBP-related disability/severity phenotypes remain poorl...

Background/Objectives: Dolutegravir (DTG) is recommended as first-line treatment for Thai people living with HIV (PLWH). Real-world studies show high plasma concentration variability, which may increase neuropsychiatric adverse effects. This variabil...

CT perfusion (CTP) analysis is difficult to implement in clinical practice. Therefore, we investigated a novel semi-automated CTP AI biomarker and applied it to identify vascular phenotypes of pancreatic ductal adenocarcinoma (PDAC) and evaluate thei...

Lentinula edodes is a globally important edible mushroom species that is appreciated for its medicinal properties as well as its nutritional value. During commercial cultivation, a mycelial brown film forms on the surface of the sawdust growth medium...

The plasma metabolome is associated with multiple phenotypes and diseases. However, a systematic study investigating clinical determinants that control the metabolome has not yet been conducted. In the present study, therefore, we aimed to identify t...

Metabolically healthy (MH) and metabolically unhealthy (MUH) phenotypes can be present in any subject independently of their body mass index (BMI). However, factors related to the presence of these phenotypes are poorly understood. Therefore, the aim...

Cucurbita maxima Duchesne squash and pumpkins are cultivated world-wide. Cucurbita maxima fruits are produced for fresh market and are valuable for food processing. Therefore, fruit characteristics and yield are the traits of high economic importance...

The ear leaf veins are an important transport structure in the maize "source" organ; therefore, the microscopic phenotypic characteristics and genetic analysis of the leaf veins are particularly essential for promoting the breeding of ideal maize var...

Background: There is a paucity of evidence on people with thoracic aortic aneurysm and dissection. We aimed to determine the prevalence of genetic variants and their associations with phenotypes. Methods: In this cross-sectional single-centre cohort...

Objective: The objective of this study was to analyze the prevalence and key sociodemographic and lifestyle determinants of metabolic syndrome (MetS) and the hypertriglyceridemic waist (HTGW) phenotype in a large occupational cohort. Background: Meta...

We aimed to determine the association of indices of body composition with abnormal metabolic phenotype, and to examine whether the strength of association was differentially distributed in different age groups in normal-weight Chinese adults. A total...

Skeletal deformities and malocclusions being heterogeneous traits, affect populations worldwide, resulting in compromised esthetics and function and reduced quality of life. Skeletal Class III prevalence is the least common of all angle malocclusion...

Variations in levels of some adipokines, myokines, osteokines, hepatokines and inflammatory cytokines contribute to abnormal glucose and lipid metabolism. The aim of this study was to determine the pattern of adiponectin, osteocalcin (OCN), irisin, F...

Background: Obesity-related cardiometabolic disorders have been linked to alterations in selected gut microbiome components, yet clinically relevant microbial signatures remain incompletely defined. Objectives: This study investigated associations be...

Background/aim: This study aimed to distinguish different phenotypes of long COVID through the post-COVID syndrome (PCS) score based on long-term persistent symptoms following COVID-19 and evaluate whether these symptoms affect general health and wor...

In bioinformatics, genome-wide association studies (GWAS) are used to detect associations between single-nucleotide polymorphisms (SNPs) and phenotypic traits such as diseases. Significant differences in SNP counts between case and control groups can...

Results from several studies show that only obese, unfit subjects, but not obese, fit subjects, are at higher mortality risk than are normal-weight fit subjects. The aim of the study was two-fold: (1) to examine the differences in C-reactive protein...

Background: We evaluated the genetic and phenotypic features of a cohort of 10 Italian patients affected by Retinitis Pigmentosa (RP) associated with RP1 sequence variants. Methods: A retrospective, cross-sectional genotype–phenotype correlatio...

Background and Objectives: Metabolic-dysfunction-associated steatotic liver disease or MASLD is the main cause of chronic liver diseases in children, and it is estimated to affect 35% of children living with obesity. This study aimed to identify meta...

Background/Objectives: To identify clinical phenotypes of hip osteoarthritis (OA) within a biopsychosocial framework. Methods: A cross-sectional analysis of 143 individuals with hip OA awaiting total hip arthroplasty (THA) was performed. Phenotyping...

Background: Chronic kidney disease (CKD) is characterized by an overproduction and accumulation of advanced glycation end products (AGEs). Because AGEs may play a role in the development of malnutrition and sarcopenia, two essential components of fra...

Recent advances in phenotyping techniques have substantially improved the ability to mitigate type-II errors typically associated with high variance in phenotyping data sets. In particular, the implementation of automated techniques such as the High-...

Circadian rhythms regulate the sleep–wake and feeding–fasting cycles. Sleep and feeding constitute a complex cycle that is determined by several factors. Despite the importance of sleep duration and mealtimes for many obesity phenotypes,...

Asian and African rice gene pools vary in many traits that are important in rice breeding. The genetic basis of these differences was evaluated by analysis of important agronomic traits in crosses between African and Asian rice. Trait-associated vari...

Chicken plumage colour is a complex trait controlled by many genes. Herein, through Rhode Island Red (RIR) and White Leghorn (WL) F1 cross populations, the segregation of plumage color was observed in females, showing white in males, and dark red (DR...

Deep bite is a malocclusion phenotype, defined as the misalignment in the vertical dimension of teeth and jaws and characterized by excessive overlap of the upper front teeth over the lower front teeth. Numerous factors, including genetics, environme...

Studies assessing dietary intake and its relationship to metabolic phenotype are emerging, but limited. The aims of the study are to identify dietary patterns in Australian adults, and to determine whether these dietary patterns are associated with m...

The metabolic syndrome (MetS), defined as the co-occurrence of disorders including obesity, dyslipidemia, insulin resistance, and hepatic steatosis, has become increasingly prevalent in the world over recent decades. Dietary and other environmental f...

Background: Atrial fibrillation is the most common human heart rhythm disorder, yet its underlying causes remain largely unknown. Trimethylamine N-oxide (TMAO), a by-product derived from the gut microbiota contributed by red meat, has been linked to...

The availability of wild chickpea (Cicer reticulatum L.) accessions has the potential to be used for the improvement of important traits in cultivated chickpeas. The main objectives of this study were to evaluate the phenotypic and genetic variations...

The APPL1 gene encodes a protein mediating the cross-talk between adiponectin and insulin signaling. Recently, it was found that APPL1 mutations can cause maturity onset diabetes of the young, type 14. Here, an analysis of APPL1 was performed in pati...

The novel pathogen Candida auris has rapidly become a major health threat due to its high virulence, resistance to multiple antifungal agents, and remarkable environmental persistence. This study evaluated the influence of phenotypic traits and antif...

Background/Objectives: Biological aging phenotypes in coronary artery disease (CAD) include coronary atherosclerosis, vascular aging, and endothelial dysfunction. The aim of the present study was to investigate the potential links between aging pheno...

Salinity tolerance-associated phenotypes of 35 EMS mutagenized wheat lines originating from BARI Gom-25 were compared. Vegetative growth was measured using non-destructive image-based phenotyping. Five different NaCl concentrations (0 to 160 mM) were...

The purpose of this study was to perform a genome-wide association study to determine the genomic regions associated with heat stress tolerance in swine. Phenotypic information on carcass weight was available for 227,043 individuals from commercial f...

Background/objectives: Psoriatic disease (PsD) encompasses psoriasis (PsO) and psoriatic arthritis (PsA) and is associated with heterogeneous cardiometabolic risk. Integrating immunogenetic markers such as HLA-Cw6 into data-driven analyses may refine...

The impact of habitual diet on chronic diseases has not been extensively characterized in South America. We aimed to identify major dietary patterns (DP) in an adult cohort in Uruguay (Genotype Phenotype and Environment of Hypertension Study—GEFA-HT-...

Background: Periodontal disease is associated with metabolic syndrome and obesity. This cross-sectional study aimed to investigate whether serum antioxidant vitamins could mediate the association between periodontitis and a metabolically unhealthy ph...

The role of transcranial magnetic stimulation (TMS) measures as biomarkers of fibromyalgia syndrome (FMS) phenotypes is still unclear. We aimed to determine the clinical correlates of TMS measures in FMS patients. We conducted a cross-sectional analy...

Beckwith–Wiedemann syndrome (BWS) is a congenital overgrowth disorder caused by various (epi)genetic alterations affecting the expression of genes on chromosome 11p15. Cardinal features include abdominal wall defects, macroglossia, and cancer p...