Articles tagged with Genome Wide Association Studies
Comprehensive exploration of living organisms, biological systems, and life processes across all scales from molecules to ecosystems. Encompasses cutting-edge research in biology, genetics, molecular biology, ecology, biochemistry, microbiology, botany, zoology, evolutionary biology, genomics, and biotechnology. Investigates cellular mechanisms, organism development, genetic inheritance, biodiversity conservation, metabolic processes, protein synthesis, DNA sequencing, CRISPR gene editing, stem cell research, and the fundamental principles governing all forms of life on Earth.
Comprehensive medical research, clinical studies, and healthcare sciences focused on disease prevention, diagnosis, and treatment. Encompasses clinical medicine, public health, pharmacology, epidemiology, medical specialties, disease mechanisms, therapeutic interventions, healthcare innovation, precision medicine, telemedicine, medical devices, drug development, clinical trials, patient care, mental health, nutrition science, health policy, and the application of medical science to improve human health, wellbeing, and quality of life across diverse populations.
Comprehensive investigation of human society, behavior, relationships, and social structures through systematic research and analysis. Encompasses psychology, sociology, anthropology, economics, political science, linguistics, education, demography, communications, and social research methodologies. Examines human cognition, social interactions, cultural phenomena, economic systems, political institutions, language and communication, educational processes, population dynamics, and the complex social, cultural, economic, and political forces shaping human societies, communities, and civilizations throughout history and across the contemporary world.
Fundamental study of the non-living natural world, matter, energy, and physical phenomena governing the universe. Encompasses physics, chemistry, earth sciences, atmospheric sciences, oceanography, materials science, and the investigation of physical laws, chemical reactions, geological processes, climate systems, and planetary dynamics. Explores everything from subatomic particles and quantum mechanics to planetary systems and cosmic phenomena, including energy transformations, molecular interactions, elemental properties, weather patterns, tectonic activity, and the fundamental forces and principles underlying the physical nature of reality.
Practical application of scientific knowledge and engineering principles to solve real-world problems and develop innovative technologies. Encompasses all engineering disciplines, technology development, computer science, artificial intelligence, environmental sciences, agriculture, materials applications, energy systems, and industrial innovation. Bridges theoretical research with tangible solutions for infrastructure, manufacturing, computing, communications, transportation, construction, sustainable development, and emerging technologies that advance human capabilities, improve quality of life, and address societal challenges through scientific innovation and technological progress.
Study of the practice, culture, infrastructure, and social dimensions of science itself. Addresses how science is conducted, organized, communicated, and integrated into society. Encompasses research funding mechanisms, scientific publishing systems, peer review processes, academic ethics, science policy, research institutions, scientific collaboration networks, science education, career development, research programs, scientific methods, science communication, and the sociology of scientific discovery. Examines the human, institutional, and cultural aspects of scientific enterprise, knowledge production, and the translation of research into societal benefit.
Comprehensive study of the universe beyond Earth, encompassing celestial objects, cosmic phenomena, and space exploration. Includes astronomy, astrophysics, planetary science, cosmology, space physics, astrobiology, and space technology. Investigates stars, galaxies, planets, moons, asteroids, comets, black holes, nebulae, exoplanets, dark matter, dark energy, cosmic microwave background, stellar evolution, planetary formation, space weather, solar system dynamics, the search for extraterrestrial life, and humanity's efforts to explore, understand, and unlock the mysteries of the cosmos through observation, theory, and space missions.
Comprehensive examination of tools, techniques, methodologies, and approaches used across scientific disciplines to conduct research, collect data, and analyze results. Encompasses experimental procedures, analytical methods, measurement techniques, instrumentation, imaging technologies, spectroscopic methods, laboratory protocols, observational studies, statistical analysis, computational methods, data visualization, quality control, and methodological innovations. Addresses the practical techniques and theoretical frameworks enabling scientists to investigate phenomena, test hypotheses, gather evidence, ensure reproducibility, and generate reliable knowledge through systematic, rigorous investigation across all areas of scientific inquiry.
Study of abstract structures, patterns, quantities, relationships, and logical reasoning through pure and applied mathematical disciplines. Encompasses algebra, calculus, geometry, topology, number theory, analysis, discrete mathematics, mathematical logic, set theory, probability, statistics, and computational mathematics. Investigates mathematical structures, theorems, proofs, algorithms, functions, equations, and the rigorous logical frameworks underlying quantitative reasoning. Provides the foundational language and tools for all scientific fields, enabling precise description of natural phenomena, modeling of complex systems, and the development of technologies across physics, engineering, computer science, economics, and all quantitative sciences.
A new perspective article suggests that integrating environmental effects into genetic research is crucial to understand the intricate nature of gene-environment interactions. The authors propose expanding genome-wide association studies by incorporating environmental data, which could help mitigate deterministic thinking in genetics.
A large, diverse genetic study identified novel genetic locations associated with primary open-angle glaucoma (POAG), a leading cause of irreversible blindness globally. The study implicated vascular and cancer-related genes in POAG risk, with 20% of associated genes related to primary cilia.
A study has identified 1,289 genetic markers associated with Type 2 diabetes, including 145 newly discovered markers. The research provides risk scores for diabetes complications and suggests potential genetic targets for new treatments.
A study published in Nature Communications has identified key genes, biological processes, and cell types that may contribute to the development of primary open-angle glaucoma. The research highlights potential mechanisms involving gene expression, cellular regulation, and vascular development.
A team of scientists has identified two key human genetic factors that contribute to severe Lassa fever. The study, which involved 16 years of collaborative effort, found a set of LARGE1 variants linked to reduced Lassa fever risk and could lay the foundation for better treatments.
A new statistical model developed by UChicago researchers accurately identifies causal genes and variants for a disease. The tool reduces false positives and takes into account multiple genes and variants, leading to the discovery of 35 putative causal genes for LDL cholesterol levels.
A global study has identified over 200 genes linked to depression, including 50 new genetic loci and 205 novel genes. The research also suggests potential for drug repurposing and highlights the need for more diverse genetic datasets to develop effective treatments.
A new study has identified three genes, MANBA, TNFRSF13B, and EEF1A1, as crucial in the regulation of IgG galactosylation, a trait associated with ageing. The research used GWAS to analyze IgG glycosylation phenotypes in a large sample size, increasing the understanding of this complex posttranslational modification.
The December issues of The American Journal of Psychiatry and Psychiatric Services explore postpartum depression, responses to stress in adulthood, and adversity in children. APA highlights increased rates of suicide among Black women, shedding light on childhood resilience and genetics.
Researchers discuss a new approach integrating genomic, epigenomic, transcriptomic, and machine learning methods to identify functional genetic variants and characterize their mode of action in regulating target genes. This method aims to improve understanding of disease etiology and prioritize causative inherited genetic variants.
Researchers at University of Pittsburgh and KU Leuven identified 30 genetic regions associated with head shape, shedding light on the biological basis of craniosynostosis. The study also found that many genes play key roles in early head formation and bone development.
Researchers characterized changes in cognitive behaviors, neuronal morphology and gene expression in a tauopathy mouse model. The study found significant decreases in dendritic arborization and synaptic gene upregulation over time.
A large-scale genomic study confirms the heritability of postpartum depression, suggesting a significant genetic component. The research also reveals that the only FDA-approved treatment for PPD, brexanolone, likely acts on GABAergic neurons in specific brain regions.
Researchers created the world's largest primate brain-wide atlas using single-cell technologies, revealing over 4 million cellular profiles. The study provides a comprehensive multimodal molecular atlas to explore links between molecules, cells, brain function and disease.
A new study has identified two main pathways involved in Alzheimer's disease, with one acting through amyloid and tau proteins and the other based on immune system reactions. The research also found that certain genes have opposite effects in men and women, suggesting a need for further investigation.
Research reveals that faster placental growth increases the risk of preeclampsia and shorter pregnancy duration. Genetic variations affecting placental size also influence baby weight and mother's health.
A new study found three genes strongly linked to vegetarianism, including those involved in lipid metabolism and brain function. The study suggests that genetics play a role in determining whether someone can stick to a strict vegetarian diet.
A genome-wide association study reveals 34 genes potentially involved in choosing a vegetarian diet, including those related to lipid metabolism and brain function. The findings suggest that genetics play a role in the ability to subsist on a vegetarian diet.
Australian researchers analyzed over 1,300 Golden staph strains, linking specific genes to antibiotic resistance and the bacteria's ability to linger in the bloodstream. The study highlights the diagnostic power of integrating clinical and genomic data to develop targeted solutions for deadly superbug infections.
A recent study published in Molecular Ecology found widespread hybridization between two species of sea stars along the North Atlantic coast. The researchers used genomic data to analyze the genetic differences between the species and found that hybrids were thriving in areas with temperatures tolerable by both species.
A study published in Nature has identified 51 significant genome-wide loci associated with COVID-19 severity and SARS-CoV-2 susceptibility. The research adds 28 new loci to the list, providing valuable information about three key biological pathways involved in determining disease outcomes.
A massive genetic study has identified specific DNA changes that increase the risk of developing epilepsy. The research found 26 distinct areas in our DNA involved in epilepsy and proposed alternative drugs targeting these genes. The findings may inform better diagnosis, classification, and treatment strategies for epilepsy.
A computational genetic model has been developed to predict individual genetic risk of developing breast cancer based on a woman's genetic profile. The model uses data from a large-scale international study and identifies women at high risk, who may benefit from earlier and more frequent screening.
A new study has identified four genetic variants associated with the direction of human scalp hair whorls, revealing a polygenic inheritance pattern. The findings may help unravel biological processes related to abnormal neurological development.
The GEMINI blood test uses machine learning to identify cancer-causing mutations in single molecules of cell-free DNA. The test detected over 90% of lung cancers, including stage I and II cases, in a proof-of-concept study published in Nature Genetics.
Researchers found a novel region in the genome associated with spontaneous control of HIV in populations of African ancestries. CHD1L, a protein involved in DNA repair, shows genetic variation specific to these populations and limits HIV replication in white blood cells.
The study identified two genes, SOX9 and KLF5, that contribute to the development of hidradenitis suppurativa. These genes play a role in hair follicle and epidermal development, respectively, and their mutations may lead to improper development of hair follicles and inflammation.
A groundbreaking Oxford study reveals a significant genetic component to people's probability of participating in genetic studies. The research identified detectable 'footprints' in genetics data that can be exploited statistically to enhance research accuracy for both participants and non-participants alike.
A team of scientists at Harvard Medical School has identified six chemical cocktails that can restore cellular aging and rejuvenate human cells. The study builds upon the discovery of Yamanaka factors, which can convert adult cells into induced pluripotent stem cells, raising hopes for treating age-related diseases and injuries. The im...
A large international collaboration has identified a genetic variant associated with faster disease progression in multiple sclerosis, highlighting the need to focus on nervous system resilience and repair. The study found that individuals with two copies of the gene variant experience accelerated disability due to MS.
Researchers discovered a genetic variant associated with faster disease progression in multiple sclerosis, linked to years of disability. The study provides new leads on addressing the nervous system component of MS and developing effective treatments.
A study by Brigham and Women's Hospital found that higher levels of diglycerides and triglycerides are associated with an increased risk of primary open-angle glaucoma. The research suggests that these lipid metabolites play a role in the disease's pathogenesis, highlighting potential new targets for prevention or treatment.
Researchers have identified a number of candidate genes that may drive the development of conditions like Type 2 Diabetes. The study found that proteins such as PCSK1, SUR1 and GLUT2 play a role in calcium ion dynamics and insulin secretion.
Researchers have unlocked the large-scale genomic analysis of foxtail millet, an important cereal crop that has been grown for roughly 11,000 years. The study identified key genes and marker-panels for its evolution and improvement in different environments.
A study of over 55,000 people identified new genetic variants associated with insulin resistance after eating, which may help inform future treatments of type 2 diabetes. The discovery highlights the importance of understanding how glucose regulation works in the body, particularly in the fed state.
Researchers at The Hospital for Sick Children identified high densities of variants linked to blood pressure genes in the non-coding genome. The study uses massively parallel reporter assay technology to examine genetic variants and provides a functional map of regulators of blood pressure genes.
A recent study has uncovered three previously unreported genetic loci associated with eyebrow thickness in Europeans, as well as rediscovering two of the four genetic loci previously found in non-Europeans. The research expands genetic knowledge on human eyebrow variation, with implications for dermatology and other fields.
A study by Massachusetts General Hospital identified genetic variants associated with response to metformin and glipizide, which can help tailor treatment selection for population subgroups. The findings may lead to personalized strategies for diabetes prevention and care treatment.
A large genome-wide association study identified novel PSA-associated variants and developed a polygenic score to correct for genetic variations in PSA levels. This approach improved biopsy referral decisions, reducing unnecessary procedures while detecting more aggressive tumors.
A new study explores the genetic mechanisms underlying honey bee colony defense and aggression, revealing that gene regulation influences collective behavior and division of labor. Researchers found that brain gene regulatory networks differ between soldiers and foragers, particularly in more aggressive colonies.
Researchers identified mRNAs and long non-coding RNAs targeted by stress granule proteins, which accumulate AD-associated gene transcripts in these structures. SGs may play a key role in regulating AD development through the impairment of protein neurohomeostasis.
Alternative gene splicing has been linked to an increased risk of alcohol use disorder (AUD), according to a recent study published in Molecular Psychiatry. The researchers identified 27 exon skipping events that may contribute to AUD risk, opening up new possibilities for finding new therapeutics.
Researchers developed a computational approach to identify causal noncoding variants affecting blood cell trait changes. The study identified 69 mutations impacting transcription factor PU.1 binding, with 51 altering its site, suggesting a link between these variants and disease.
The study analyzed genome-wide data from 55 individuals to understand the genetic structure of Taiwan's Indigenous groups. The results suggest that highland groups, such as the Atayal, have a distinctive genetic profile indicating isolation for over 3,000 years.
A new study using ancient DNA from northern and central Mexico reveals population continuity despite drastic environmental change, providing new insights into the region's demographic history. The research also identifies two 'ghost' populations contributing to pre-Hispanic populations, revealing a complex demographic landscape.
A new computer-modeling system, scDesign3, has been developed to generate realistic synthetic data for analyzing genetic makeup of cells. The system can help researchers evaluate and validate computational methods for tasks such as gene expression analysis and cell trajectory modeling.
The UC Santa Cruz Genomics Institute will run the Data Coordination Center for the Scalable and Systematic Neurobiology of Psychiatric and Neurodevelopmental Disorder Risk Genes (SSPsyGene) Consortium. The team will coordinate an initial selection of 250 relevant genes from nearly 30,000 protein coding genes in the human genome.
A new approach, STING-seq, combines genetic association studies, gene editing, and single-cell sequencing to identify causal variants and genetic mechanisms for blood cell traits. This method can help scientists identify drug targets for diseases with a genetic basis.
Researchers at UCL have identified proteins in the blood associated with an increased risk of developing heart diseases, including heart failure. The findings could lead to more refined cancer treatments that minimize cardiotoxicity and improve survival rates.
A team of researchers conducted the largest proteomic study on yeast cells to gain a detailed picture of previously unknown gene functions. The study revealed general principles governing protein expression and identified thousands of proteins with their biophysical properties.
A study using multiple-model GWAS identified optimal allelic combinations of quantitative trait loci for higher malic acid content in tomatoes. The researchers deciphered the polygenic architecture of malic acid content and provided new genetic insights into its evolution during breeding.
Researchers have identified 145 potential height genes linked to skeletal disorders and growth plate maturation. The study found that genetic changes affecting cartilage cell maturation may strongly influence adult height.
A recent study identified novel genes that influence PARP inhibitor response in prostate cancer, including MMS22L and RNASEH2B. The research found that loss of CHEK2, a previously approved biomarker, confers resistance to PARP inhibition, highlighting the need for comprehensive genomic analysis to improve treatment decisions.
Researchers have developed a non-invasive method to track human aging using retinal scans, which are less expensive and more accurate than other aging clocks. The study found that changes in the eye can provide an actionable evaluation of gero-protective therapeutics, offering a new tool for tracking aging.
High blood pressure damages specific brain regions, including the putamen and white matter areas, leading to cognitive decline and increased risk of dementia. The study uses a combination of MRI, genetic analyses, and observational data to identify these affected regions.
Chinese scientists have identified a key gene involved in crop alkaline tolerance, which may greatly improve crop yield in sodic environments. The study found that the gene negatively regulates alkaline stress by modulating the efflux of H2O2 under environmental stress.
Researchers identified over 1,000 genes with age-related methylation changes in human sperm. These changes are associated with increased offspring disease susceptibility for neurodevelopmental disorders. The study found no correlation between paternal BMI or semen quality and age-related methylation changes.
Researchers used UK Biobank image and genomic data to uncover insights into rare retinal dystrophies, a leading cause of blindness in working-age adults. The study identified new genetic associations with the thickness of photoreceptor cell layers, offering new avenues for research and diagnosis.
Mutant mice lacking FADS1/2 genes exhibit bipolar swings in behavior, featuring phases of abnormally low activity and hyperactivity. Omega-3 fatty acid supplements and a mood stabilizer reverse behavioral changes, suggesting these mice as a valuable model for studying BD.
A recent study has identified nine new genetic variants that increase the risk of prostate cancer in men of African descent, including a variant linked to aggressive forms. The findings can be used to refine polygenic risk scores and identify high-risk patients for earlier screenings.