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.
Researchers analyzed data from over 30,000 patients to determine if Parkinson's disease and Alzheimer's disease share a common genetic risk factor. The study found no evidence of such overlap.
A study at Columbia University Irving Medical Center identifies key molecular pathways leading to late-onset Alzheimer's disease. The research highlights several new potential drug targets, including SV2A and RFN219, which are involved in the processing and trafficking of amyloid precursor protein.
Researchers at McGill University have found that cranberry derivatives can inhibit bacteria from sticking to surfaces, potentially preventing infections in medical devices such as catheters. The study's findings also suggest that cranberries may play a role in preventing chronic infections, which are a major public health concern.
The study identified 16 new genetic associations related to pollen, dust-mite, and cat allergies, highlighting key pathways in the biological basis of common allergies. This research provides a significant step towards understanding the genetic link between allergens and allergic reactions.
Valerie Hu's study reveals RORA regulates more than 2,500 genes, many involved in neuronal development and functions. The gene's expression is reduced in RORA-deficient brain tissues from individuals with autism.
The study found 5 genetic regions linked to the onset of migraine and identified 12 genetic regions associated with migraine susceptibility. The regulation of these pathways may be important to the genetic susceptibility of migraines, which affects approximately 14% of adults and is a debilitating disorder.
Researchers have identified a genetic variation that can help estimate the correct dose of warfarin for African-Americans. This discovery may improve the predictability of warfarin dosing by 21 percent, reducing hospitalizations for adverse drug reactions.
A multi-national study identified genetic markers associated with educational attainment using data from over 125,000 individuals. The research found that genetic variants could explain about 2% of the variation in educational attainment, highlighting the complex relationship between genetics and education.
The largest genetic sequencing study of human disease to date investigated six autoimmune diseases, including thyroid disease and type 1 diabetes. The study found that a complex combination of hundreds of weak-effect variants, each common in the population, contributes to the heritability of these conditions.
Researchers at Penn Medicine have identified four new genetic variants associated with an increased risk of testicular cancer, with markers found at four loci, including 4q22, 7q22, 16q22.3, and 17q22.
A study found genetic loci associated with H pylori seroprevalence through genome-wide association studies and meta-analysis. Genetic testing for H pylori susceptibility outside of research projects is premature due to the current approach's limitations.
Researchers at UC San Diego have developed novel statistical models to identify associations between DNA variants and diseases, leading to a more complete understanding of genetic underpinnings and potential breakthroughs in disease treatment and gene discovery.
Researchers have identified a gene variant ID associated with non-alcoholic fatty liver disease (NAFLD) diagnosis, including steatosis, steatohepatitis, and fibrosis. The study suggests that screening for this variant could lead to earlier detection and improved management of NAFLD.
A genome-wide association study identified a novel genetic locus linked to both the onset and mortality of idiopathic pulmonary fibrosis. The study found that a variant in the TOLLIP gene was associated with an increased risk of death, suggesting an abnormal immune response may be central to the disease.
Pulmonary fibrosis is a condition where lung tissue becomes thickened and scarred, with no approved drugs for its most common form. A new study found that genetic variation accounts for approximately one-third of the risk, identifying seven novel genetic risk loci involved in host defense, cell-cell adhesion, and DNA repair.
Researchers at Mount Sinai identify 14 genetic targets associated with heart rate, which could lead to new drugs for treating cardiovascular disease. The study's findings also shed light on the genetic regulation of heartbeats and cardiac conduction disorders.
A study published in JAMA Network identifies genetic variants associated with Alzheimer's disease in African Americans, including ABCA7 and APOE genes. The findings suggest that these variants may also be relevant for individuals of European ancestry.
A new study published in Biological Psychiatry found that common genetic variants explain 42% of individual differences in antidepressant response, providing a significant step towards personalized treatment for depression. The research identified multiple genetic markers involved in predicting response to antidepressants.
A genetic risk score has been developed to predict who is likely to become a lifelong heavy smoker. Individuals with high-risk genetic profiles were more likely to start smoking as teens, progress to heavy smoking, and develop nicotine dependence.
Researchers have identified the LY86 gene as a key contributor to obesity, finding high methylation levels associated with increased inflammation and insulin resistance. This association held up across various populations, suggesting a potential link between environmental factors and genetic expression.
A comprehensive study has identified seven new regions of the human genome associated with increased risk of age-related macular degeneration (AMD). The study, led by Case Western Reserve University School of Medicine, found that AMD is not caused by a single genetic change but rather by many events that accumulate over time.
Researchers have discovered seven new genetic loci associated with increased risk of age-related macular degeneration (AMD), a condition that affects central vision and can lead to blindness. The study, supported by the National Eye Institute, represents the most comprehensive genome-wide analysis of AMD genetics.
Researchers have identified seven new genetic regions associated with AMD, explaining up to 65% of the genetics of the disease. The study combined existing data from over 17,000 patients and 60,000 people without AMD, revealing genes involved in immune system signaling, lipid metabolism, and blood vessel development.
The study identified seven new loci near genes that are associated with increased risk of age-related macular degeneration. The analysis included data from over 17,000 people with advanced AMD and 60,000 without, revealing a variety of biological functions implicated in the disease.
Scientists identify genes involved in cholesterol metabolism and cardiovascular disease risk by selectively decreasing gene expression using RNA interference. The study provides a new approach for understanding the mechanisms of cardiovascular disease and improving its prediction and diagnosis.
A study by Princeton University researchers suggests that heritability in humans may not be missing after all, but rather hidden due to limitations in modern research tools. By using yeast cells as a model, the team detected DNA variations associated with traits and characteristics, indicating that most heritability is accounted for.
A recent genome-wide imaging study has discovered a new gene, BCHE, associated with Alzheimer's plaques. The study found that variants of the BCHE gene are significantly linked to increased levels of amyloid plaque deposits in the brains of patients and those at risk for the disease.
Researchers analyzed blood plasma samples from mice to identify protein traits associated with genetic markers, paving the way for diagnostic and therapeutic targets
A genetic variant in the LPA gene has been identified as a major contributor to aortic valve calcification, increasing the risk by over 50%. Researchers found that people with this variant have higher levels of lipoprotein (a) cholesterol particles, which can lead to calcium deposits on the aortic valve.
Researchers identified a protein trafficking defect in brain cells that may underlie common non-familial forms of Parkinson's disease. The defect is related to genetic variants in two genes, LRRK2 and RAB7L1, which disrupt protein sorting and lead to the accumulation of protein aggregates.
Researchers identified seven gene variants associated with human longevity, including deletions and duplications that impact alternative splicing. These variations may provide protection against diseases, allowing individuals to live longer.
Researchers discovered a novel syndrome caused by mutations in the ASXL3 gene, characterized by non-specific symptoms and intellectual disability. The study provides a molecular definition of this condition, which is difficult to distinguish from Bohring-Opitz syndrome, and highlights the importance of sharing genomic data.
A new study published in the American Journal of Human Genetics finds a significant link between schizophrenia and cardiovascular disease. The researchers used a novel statistical model to identify 16 new loci associated with both conditions, including triglyceride levels and waist-hip ratio.
A new genetic variant has been identified as a potential target for treatment in reducing stroke risk, with no association found in small vessel disease. The study highlights the need for individualized treatment approaches, given the different genetic mechanisms underlying various types of stroke.
A high-resolution map of gene regulatory elements in the brain has been created, identifying thousands of enhancer sequences that amplify gene expression. The atlas provides critical information for studying neurological disorders and brain development.
A new study reveals that genetic factors significantly contribute to obesity, with DNA influencing body-fat responses to high-fat, high-sugar diets. The research found that genetics account for up to 80% of the variation in body-fat percentage among mice, suggesting a strong link between DNA and fat gain.
Researchers have identified a specific section of chromosome 2 that regulates von Willebrand factor levels, a key substance in blood clotting. The findings may lead to improved diagnosis and treatment for bleeding disorders.
Researchers at Vanderbilt University Medical Center have identified three new genetic variants linked to an increased risk of colorectal cancer. The study, published in Nature Genetics, provides new insight into the biology of the disease and could lead to new therapeutic targets.
A recent study published in PLOS Genetics found a specific set of genes interacting to regulate pain sensitivity in humans. The research used exome sequencing to analyze DNA samples from individuals with varying levels of pain sensitivity, revealing distinct patterns of genetic variants in each group.
Researchers discovered rare genetic variants in genes related to blood pressure regulation also influence sensitivity to pain. The study suggests existing blood pressure treatments could be used to control chronic pain, offering a new approach to pain relief.
A study published in Current Biology found that the European Romani population has its roots in northwestern India, dating back around 1,500 years. The research used genome-wide data to confirm this origin and shed light on the history of the Romani people.
Research identified genetic changes that enable Ethiopians to thrive in thin air, differing from those found in Tibetan populations. This discovery sheds light on how high-altitude populations worldwide have evolved differently from their low-altitude ancestors.
Researchers have identified 75 genetic regions that influence red blood cell formation, shedding light on the biological pathways and mechanisms involved in controlling the size and number of red blood cells. This discovery may lead to new insights into the genetics of anaemia and potential treatments.
Researchers at Kansas State University have developed a new method for prioritizing genes in plant genomes, which has been shown to improve the likelihood of finding critical genes controlling traits such as drought tolerance and grain yield. By applying genetic-analysis methods used to study humans, scientists were able to identify a ...
Researchers identified four new gene regions linked to low birth weight, influencing adult height, type 2 diabetes risk, and blood pressure. The study's findings suggest a strong genetic influence on fetal growth and potential lifelong health benefits from prenatal interventions.
A large-scale international study identified 15 new genetic regions associated with coronary artery disease, revealing a link between inflammation and plaque buildup in heart vessels. The research, which analyzed data from over 190,000 participants, provides insights into the molecular pathways causing the deadly disease.
A study has identified two genetic factors linked to sagittal craniosynostosis, a condition causing premature skull closure. The findings may lead to prenatal screening and diagnostic tests or early interventions to prevent the condition.
Dr. Richard Casaburi leads research on COPD, a disease affecting millions, to identify genetic factors and develop new treatments. The study, funded by NIH, aims to understand what genetic deficiencies contribute to COPD development and progression.
A large-scale genome-wide association study found three genetic regions associated with lung cancer risk in Asian female never-smokers. The discovery provides evidence that common inherited genetic variants contribute to an increased risk of lung cancer among this population.
Researchers at The Scripps Research Institute identify a new pathway regulated by HDAC4 that plays a major role in information processing. This discovery offers insight into how imbalances in this pathway contribute to cognitive abnormalities in humans.
A large-scale study of over 34,000 individuals has identified 71 new genetic regions linked to inflammatory bowel disease (IBD), increasing the total number of discovered regions to 163. The findings highlight the complex interplay between the immune system and microbial infections in IBD.
Researchers at Simon Fraser University have identified 475,806 genetic variants in the human genome that contribute to a 30% risk of developing Multiple Sclerosis. These variants, particularly those on chromosome 6, are linked to small DNA variations that have long been associated with MS susceptibility.
A variant in the NFKB1 gene has been associated with a 44% reduced risk of lung cancer, according to a new analysis of 378 patients and 450 healthy controls. The study suggests that inflammation may play a role in lung cancer development.
Researchers have identified 8 new genetic regions associated with atopic dermatitis, a chronic skin condition affecting millions worldwide. The findings suggest overlapping susceptibility regions between atopic dermatitis and asthma, pointing to common genetic factors for allergic diseases.
A recent genome-wide evaluation by Boston University School of Medicine researchers has found specific genes and alterations in their expression to be associated with an increased risk of developing Parkinson's disease. The study identified cis-effects in the MAPT region and trans-effects involving SNCA, MAPT, and RIT2 genes.
Researchers from Brigham and Women's Hospital (BWH) have discovered a genetic risk allele for uterine fibroids in white women using an unbiased approach. Genetic variants were found to be significantly associated with uterine fibroid status, particularly in the FASN gene, which encodes fatty acid synthase protein.
Researchers found that greater sugar-sweetened beverage consumption is associated with a higher genetic susceptibility to high BMI and increased obesity risk. The study suggests that environmental factors can amplify the genetic risk of obesity by consuming sugary drinks.
The largest genomic study ever conducted among Khoe and San groups reveals that these groups from southern Africa are descendants of the earliest diversification event in human history. The research found evidence of local adaptation in different Khoe and San groups, as well as surprising stratification among the groups.
Researchers identified two genomic locations associated with a large number and variety of diseases, including cancer and autoimmune disorders. The MHC locus was linked to autoimmune diseases, while the INK4/ARF locus was connected to aging-related diseases such as atherosclerosis and Type II diabetes.
A Chinese research team found strong genetic evidence linking mevalonate kinase gene (MVK) mutations to disseminated superficial actinic porokeratosis (DSAP), a rare skin disorder. MVK mutations were not detected in other clinical subtypes of Porokeratosis, suggesting they may be specific to DSAP patients.