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 study published in Diabetologia found that childhood obesity is associated with a higher risk of four out of the five recently proposed subtypes of adult-onset diabetes. The study used Mendelian randomization to investigate the link between childhood body size and the risk of different diabetes subtypes occurring in adults.
Researchers created a network of interacting proteins to understand the function of genes and link specific biological processes to diseases. They identified groups of proteins interacting with genes linked to over 1,000 human traits, providing insights into new targets for drug discovery and potential repurposing opportunities.
Researchers found 270 distinct differentially methylated regions (DMRs) in AD brains compared to normal controls, validating their key findings using an independent cohort. The study offers a novel approach to investigating the relationship between DNA methylation and gene/protein expression.
A recent study found that metformin users had distinct DNA methylation profiles compared to non-users, potentially revealing its role in longevity. The research identified several pathways related to delirium and aging, highlighting the need for further investigation into metformin's mechanism of action.
A new study published in Genes, Brain and Behavior found that genetic variants in LINGO2, OAS1, and HECTD1 are associated with different mathematical abilities in Chinese children. The study refined genome-wide association studies of math skills and added population diversity to the literature.
Researchers found associations between cancer treatments and accumulated mutations in blood cells, a sign of accelerated aging called clonal hematopoiesis. This accumulation increases the risk of blood cancer and death in long-term childhood cancer survivors.
A recent study published in Nature has discovered several new disease genes and provided new insights into the effects of known genetic factors on disease. The study highlights an underappreciated complexity in dosage effects of genetic variants, challenging traditional Mendelian inheritance laws.
A new toolkit enables researchers to map individual RNA data to a more diverse 'pantranscriptome', addressing reference bias and increasing the accuracy of gene expression mapping. This approach builds on pangenomics, allowing for the comparison of an individual's genome to genetically diverse cohorts of reference sequences.
Researchers have identified a new genetic pathway involved in regulating sleep from fruit flies to humans. The Pig-Q gene is associated with sleep regulation in both humans and animals, providing a novel insight into the genetics of insomnia.
A recent study has revealed a novel cold domesticated repair mechanism for DNA damage in rice, providing elite modules for improving chilling tolerance. The discovery of GCG codon repeats in the first exon of COLD11, a DNA repair protein, has opened the way for fine regulation of rice chilling tolerance with a single site.
Researchers identified six genes associated with dementia risk in people of African ancestry, differing from those found in European populations. The study highlights the need for increased representation of non-European ancestry groups in genetic research to address health disparities.
A massive international data analysis uncovered hundreds of signals for new treatment and prevention targets in colorectal cancer. The study identified 250 independent risk associations, including 50 newly discovered ones, through analyzing genomic, transcriptomic, and methylomic data.
Researchers confirmed smoking and obesity increase COVID-19 severity, with ACE2 mediating detrimental effects. Lower socioeconomic position also increases COVID-19 risk, highlighting social inequalities.
Researchers used WGS data of 10,585 people from China to construct the first blood virological profile of the Chinese population. The study identified 14 viruses widely present in the population, including hepatitis B virus, which was detected in 1.69% of individuals.
Researchers uncovered distinct DNA methylation profiles in ocean microbes, shedding light on population dynamics and interactions. The study's findings have significant implications for understanding pathogenicity and developing new approaches to monitoring environmental health.
Researchers discovered 10 novel genetic loci associated with osteoarthritis, which are robustly found in every population ancestry studied. The study also identified genes expected to contribute to OA included targets for existing drugs against cancer, epilepsy and acne.
A new AI-powered blood test, DELFI, has been developed to detect liver cancer with high accuracy. The test detected over 80% of liver cancers in a study of 724 individuals, with an overall sensitivity of 88% and specificity of 98%.
Researchers identified five genetic variants that progressively increase the risk of becoming nearsighted with more schooling, especially for university-level education. These findings provide new insights into biological pathways causing nearsightedness and its interaction with lifestyle factors.
A genetic variant associated with low levels of HDL 'good' cholesterol and high triglycerides has been identified in Polynesian people. This discovery provides new insights into the genetic causes of high cholesterol and may lead to the development of more effective treatment options.
A recent study identifies a specific gene, GNL3, that regulates neural proliferation in response to lithium, which is used to treat bipolar disorder. This gene plays an important role in brain function and has been implicated in risk for bipolar disorder, schizophrenia, and inter-individual variations in intelligence.
The study found that genetic variants associated with height are concentrated in regions covering just over 20% of the genome. The variants identified explain 40% of the variation in height for people of European ancestry, and around 10-20% for those of non-European ancestry.
Researchers have analyzed data from 5.4 million people to uncover 12,000 genetic variants influencing height, explaining 40% of differences. This breakthrough enables the prediction of height with greater accuracy, particularly for children, and has implications for medical investigation and police investigations.
The Global Biobank Meta-analysis Initiative has made significant advancements in expanding genome-wide association studies (GWASs) to include more diverse and representative data from around the world. By analyzing genomic data from over 2 million individuals across four continents, researchers have identified new genetic variants asso...
Researchers identified 257 rhizoplane microbial biomarkers associated with six key agronomic traits, revealing a complex association between millet genotype, root microbiome, and crop growth. The study provides insights into precision agriculture based on genotype-dependent microbial effects in foxtail millet.
Researchers have discovered two genes contributing to a paradoxical drug effect in Aspergillus fumigatus, a fungus that causes deadly infections. The findings could lead to the development of new treatments and improve patient outcomes.
A genome-wide study has identified two genetic variants and structural changes in chromosomes associated with posterior urethral valves, a condition that affects 1 in 4,000 males. The study highlights the importance of including diverse populations in genetic studies to identify genetic contributors to rare conditions.
Researchers from Children's Hospital of Philadelphia used advanced mapping techniques to identify causal genes and target pairings in the pancreas linked to type 2 diabetes. The study revealed alpha and acinar cells play a greater role in disease development than previously thought.
The expanded 1000 Genomes Project resource now includes nearly all parent-child trios alongside the original samples, sequenced at high coverage using Illumina NovaSeq instruments. This comprehensive analysis presents significant improvements in variant calls, especially among rare SNVs, INDELs, and SVs.
The study developed a high-throughput method for screening non-photochemical quenching rates in field-grown plants using pulse amplitude modulated chlorophyll fluorescence analysis. This approach enables testing hundreds of genotypes within a day, paving the way for genome-wide association studies.
A new UCLA-led study has identified multiple new risk genes for Alzheimer's disease and progressive supranuclear palsy (PSP) by combining new testing methods. The researchers used high-throughput testing to simultaneously test 5,706 genetic variants in 25 loci associated with Alzheimer's and nine loci associated with PSP.
A massive analysis of over 10,000 Mycobacterium tuberculosis isolates revealed new genes associated with resistance to 13 antibiotics. The study provides a comprehensive framework for understanding the genetic mechanisms of resistance and identifying diagnostic gaps.
A team of researchers from The Mount Sinai Hospital has made a groundbreaking discovery into the genetic and molecular mechanisms that predispose individuals to Alzheimer's disease. They identified 21 candidate risk genes, including SPI1, which regulates microglia and AD risk.
Researchers examine the genomic variations of 191 microbial strains paired with their host plants to understand cooperation and conflict. They found that 80% of symbiont genes align with the host's interest, often paying for them to be beneficial despite competing interests.
Researchers at Boyce Thompson Institute have created the first comprehensive annotation of long intergenic non-coding RNAs (lincRNAs) in four mustard species. The study identifies locations across all four genomes that encoded lincRNAs, proposed functions for them, and confirmed the function of some lincRNAs involved in germination. Th...
Researchers found global redistribution of histone H3 modifications with time, particularly in intergenic regions and near transcription start sites. Caloric restriction diet feeding reduced the extent of changes occurring during the first year of life in these genomic regions.
Researchers at Gladstone Institutes and Stanford University identified key genes linked to T cell exhaustion. They discovered how to block these genes, resulting in healthier T cells and smaller tumors in mice with cancer. This breakthrough may lead to improved immune-based treatments for cancer patients.
Researchers have developed a new method to assess the three-dimensional structure of the human genome, revealing that groups of simultaneously interacting regulatory elements may affect gene expression. The study found that cooperative groupings of DNA elements occurred around genes associated with cell identity.
A new study reveals that over half of human populations worldwide have experienced sharp dips in population size due to founder events, associated with geographic isolation, hunter-gatherer lifestyle, or cultural practices. This analysis technique, ASCEND, will help identify groups at high risk of genetic diseases.
Scientists have discovered a significant genetic link to humans' ability to move in sync with music. The study identified 69 genetic variants related to beat synchronization and found connections between rhythm and health, while acknowledging that environment also plays a crucial role.
A new study found that genes tied to perception of five basic tastes may influence diet quality and cardiometabolic risk factors. Researchers identified associations between taste-related genes with specific food groups and risk factors, suggesting personalized nutrition guidance could improve diet quality.
Researchers developed an in vitro stem cell model to map disease risk variants in human neurons, which could provide insights into the biological mechanisms underlying neuropsychiatric disorders. The study focuses on mapping cis-regulatory elements linked to psychiatric disease heritability.
A large study has found six predictors that can help determine the optimal lithium dose for patients with bipolar disorder. The predictors include age, sex, kidney function, and medication use. The researchers hope to develop a digital app to aid psychiatrists in finding the right dose.
A massive global study of diverse populations has significantly advanced the understanding of type 2 diabetes by identifying 117 genes that contribute to the disease. The research used genetic data from almost 181,000 people with type 2 diabetes and 1.16 million without it.
Researchers found a genetic link between long repeated DNA sequences and schizophrenia. The study discovered rare tandem repeat expansions near genes associated with the disorder, contributing to dysfunction at synapses and disrupting gene function.
Researchers have mapped the connections between DNA and blood proteins in two large populations, providing insights into disease causes and potential treatment targets. The study's findings could shed light on health disparities and help develop new therapies.
Researchers from The University of Texas Health Science Center at San Antonio have identified 33 genes associated with Alzheimer's disease, doubling the known list. This discovery adds 42 new genetic variants to the existing gene list, shedding light on emerging pathways of Alzheimer's biology and potential treatment targets.
A study found that small genetic variations impact an organism's ability to utilize energy from various nutrients. Researchers identified several genes contributing to sugar tolerance in fruit flies, which are also present in humans and linked to obesity and type 2 diabetes.
A large-scale genetic study has identified 287 genomic regions associated with schizophrenia and 120 specific genes linked to the disorder. These findings provide new insights into the biological processes underlying schizophrenia, offering potential avenues for novel therapies.
A National Jewish Health-led study found that over a third of identified genetic risk factors for asthma are associated with altered function of airway epithelium. The research discovered genetic changes in genes related to mucus production and type 2 inflammatory pathways, increasing asthma risk.
A new study confirms that abnormalities in the GDF15 gene are involved in hyperemesis gravidarum, a condition causing severe nausea and vomiting during pregnancy. The discovery may lead to targeted treatments and improved care for women with HG.
Researchers at Clemson University have identified a genetic variation associated with congenital idiopathic megaesophagus (CIM) in German shepherd dogs, which is often fatal if left untreated. A genetic test using melanin-concentrating hormone receptor 2 and dog's sex can predict the risk of CIM with 75% accuracy.
A new study predicts rheumatoid arthritis progression using a polygenic risk score. The score, generated from genetic variants associated with the disease, significantly differed between severe and non-severe progression groups. Higher scores were linked to higher risks of severe progression, particularly among younger patients.
A new study identifies common genetic factors in depression and Alzheimer's disease, suggesting a potential causal role of depression on dementia. The research found that depression played a significant role in AD development, with those experiencing worse depression experiencing faster memory decline.
A team of scientists has identified hundreds of new genomic loci associated with brain structure, shedding light on how the human brain is shaped. The study used genetically informed brain atlases to uncover the largest number of genetic variants linked to cortex size and thickness.
A recent study has identified 29 new genetic variants associated with acne, providing potential new targets for treatment and helping clinicians identify individuals at high risk of severe disease. The research, involving over 20,000 individuals with acne, also found a link between genetic risk and disease severity.
A genetic study published at Queen Mary University of London found that individuals with higher genetic sensitivity benefit more from couple's therapy, particularly in the long-term. The researchers used genome-wide data to assess genetic sensitivity and found that it had a significant impact on marital satisfaction over time.
Researchers discovered that a hormone called FGF21 suppresses alcohol consumption in primates by altering neural transmission in the brain. This finding provides a mechanism for a liver-to-brain endocrine feedback loop to protect the liver from damage and may lead to potential treatment options for alcohol use disorder.
Researchers have identified genes associated with spinach's resistance to downy mildew and its levels of oxalates. The findings could help breeders produce disease-resistant varieties with more consumer appeal, improving spinach's market prospects.
Two studies highlight significant migration to Great Britain that replaced 50% of the island's ancestry during the Late Bronze Age. The analysis also reveals a dramatic increase in milk tolerance around 1200 B.C., providing new insights into dairy consumption in Britain.
Weill Cornell Medicine researchers have developed a new approach to analyze genetic mutations associated with spina bifida, shedding light on this complex birth defect. The study uses machine learning to identify genes and molecular pathways relevant to neural tube closure.