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 have identified a gene, MTHFD1L, that increases the risk of developing late-onset Alzheimer's disease. The study found individuals with a specific variation in this gene are nearly twice as likely to develop Alzheimer's as those without it.
A global study of over 65,000 individuals has identified more than a dozen genes associated with chronic kidney disease. The researchers found that common genetic variations in these genes were more frequent in people with poor kidney function or chronic kidney disease.
Researchers have discovered three new genes associated with age-related macular degeneration, including two involved in the cholesterol pathway. The study increases understanding of DNA variations that predict individual risks of AMD and provides clues for developing effective therapies.
A Yale-led team has discovered three new genetic factors that significantly increase the risk of developing brain aneurysms. The study analyzed over 20,000 subjects and found that individuals carrying these variants are up to seven times more likely to suffer an aneurysm than those with no risk factors.
A team at the University of Southern California used a genome-wide association method to locate genes behind important plant traits such as flowering time and disease resistance in Arabidopsis thaliana. The study identified dozens of genes linked to these traits, with potential applications in agriculture and biofuels.
A genetic variation at the GPC5 gene has been linked to a reduced risk of sudden cardiac arrest. The study found that individuals with this variation have a 15% lower likelihood of experiencing the heart disorder, which claims over 250,000 American lives each year.
A recent study found that genetic variations in the GPC5 gene are associated with an increased risk of lung cancer in never-smokers. The research, published in The Lancet Oncology, suggests that GPC5 could be a new target for drug development and could help identify high-risk individuals.
A recent study found that approximately 30% of never-smoking lung cancer patients carry a rare variant of the GPC5 gene, leading to reduced expression levels and increased risk of cancer. The research suggests that GPC5 may be a critical tumor suppressor gene in lung cancer development.
A new computational strategy for genome-wide association studies (GWAS) corrects for population structure and hidden relatedness, reducing computation time from years to hours. The EMMAX method uses high-density markers to capture complex relationships between individuals and corrects for ancestry-related biases.
A study found a region of chromosome 5 associated with eosinophilic esophagitis, a severe and painful type of food allergy that can cause weight loss, vomiting, and swallowing difficulties. The likely culprit is the gene TSLP, which has higher activity levels in children with EoE compared to healthy subjects.
Scientists have identified a region of chromosome 5 associated with eosinophilic esophagitis (EoE), a rare allergic disease. The study suggests that the thymic stromal lymphopoietin (TSLP) gene may play a role in EoE, and future research may lead to a genetic test and treatments.
A new study examined gene networks instead of individual genes to confirm the influence of glutamate receptor signaling genes on a person's level of response (LR) to alcohol. The findings show that variation in sets of genes encoding components for neuronal communication contribute to individual differences in alcohol LR.
A genome-wide association study supports an association between alcohol dependence and genes on chromosome 11. The study identified a cluster of genes in this region that may contribute to the risk of developing alcoholism.
Mayo Clinic researchers have developed a novel approach for sequencing RNA to study cancer tumors, revealing alterations in gene expression driven by chromosomal regions of gain and loss. This technology allows for detailed analysis of the transcriptome, enabling better understanding of individualized medicine and potential therapeutic...
Scientists at Duke University have discovered that a genetic alteration linked to a benign enzyme condition protects some hepatitis C patients from developing hemolytic anemia. This finding opens the door to treatment for previously untreatable patients and may also hold the key to preventing anemia in the first place.
A common gene variant has been associated with an increased risk of lone atrial fibrillation, a type of irregular heartbeat that affects younger individuals without known heart disease. The genetic variation affects a protein involved in controlling the heart's electrical activity and may provide new drug targets for treatment.
A team of scientists has sequenced human genomes from Southern African Bushmen and Bantu individuals to better understand human genetic variation. The study identified 1.3-million genetic variants, showcasing the distinct genetics of Southern Africans compared to other populations.
A study of over 19,000 women found that a genetic risk score based on multiple genetic markers was not associated with improved cardiovascular disease (CVD) risk prediction. Despite this, traditional factors such as family history and intermediate phenotypes like cholesterol levels remained significant predictors.
Scientists at Duke University Medical Center found that rare genetic variants, rather than common ones, may be responsible for the genetic component of most common diseases. Simulation studies revealed 'synthetic' genome-wide signals of disease risk, suggesting a shift in research focus to detecting rare variants.
Researchers challenge conventional interpretations of genome-wide association studies, finding synthetic associations between rare and common gene variants that produce signals similar to those found in actual disease studies. This suggests that researchers may need to broaden their search to pinpoint these powerful mutations.
A major international study has identified 10 new gene variants associated with blood sugar or insulin levels, including two that increase type 2 diabetes risk. The study provides additional information on glucose regulation and potential therapeutic targets for the disease.
A study reveals a genetic variant that increases the risk of Parkinson's disease, affecting vitamin B6 metabolism and dopamine production. This interaction with dietary habits may aid in developing individualized therapies.
Researchers at UT Health Science Center at Houston identify two new genes implicated in ankylosing spondylitis and pinpoint areas regulating gene activity associated with the condition. The study brings the scientific community closer to understanding AS, a chronic form of arthritis affecting millions worldwide.
Researchers at Helmholtz Munich identified genetic variants associated with disturbances in lipid metabolism, which may contribute to the development of diabetes. The study provides a new approach for early diagnosis and therapy of metabolic diseases.
Scientists at Stanford University School of Medicine have found that pairs of autoimmune diseases are linked in clinical practice and can be attributed to specific genetic variations known as SNPs. The researchers identified 15 key SNPs that predispose individuals to multiple autoimmune diseases, while also protecting them against others.
Researchers have discovered a novel gene, DENND1B, involved in childhood-onset asthma, which affects immune system signaling molecules. The study's findings may lead to new treatments targeting the gene's role in asthma's characteristic wheezing and shortness of breath.
A recent genetic study of African and African-American populations reveals a rich mosaic of ancestry, with individuals having as little as 1 percent West African or as much as 99 percent. The study found significant implications for pharmacogenomic studies, personalized medicine, and disease risk assessment.
Researchers at TGen identified genetic markers associated with end-stage renal disease in diabetics, providing hope for early diagnosis and prevention. The study found eight locations along the human genome tied to ESRD, including six potential markers for Type 1 diabetes.
A new NIH-funded study has uncovered several DNA sequences linked to impaired pulmonary function, providing insight into mechanisms of lung capacity and potentially leading to better understanding of diseases like asthma and COPD. The findings may help develop new interventions to manage lung diseases and improve mortality rates.
A team of researchers at Karolinska Institutet has discovered a gene module underlying atherosclerosis development by analyzing total gene activity in organs relevant to coronary artery disease. The findings suggest that targeting the migration of white blood cells may help reduce the risk of adverse clinical effects.
Genome-wide association studies are increasingly conducted in developing countries, raising ethical concerns about data release, privacy, and security. A study developed a 'managed' approach to oversee open access, define acceptable uses of data, and guide the timing of data release.
A large-scale genetic analysis of 17,296 women identified 43 genetic loci contributing to lipoprotein metabolism, providing new insights into the molecular basis of cardiovascular disease. The study also quantifies the contribution of common genetic variation to plasma lipoprotein concentrations.
Researchers at the University of Washington successfully used exome sequencing to identify a previously unknown gene responsible for Miller syndrome, a mendelian disorder. This breakthrough study demonstrates the efficiency and potential of this strategy in discovering the genetic basis of rare diseases, which could lead to new therapies.
A large-scale genome-wide association study will be conducted to investigate the interplay between genetic and environmental factors in Barrett's esophagus and esophageal adenocarcinoma. The study aims to identify biological pathways contributing to this rapidly fatal cancer.
Researchers at North Carolina State University discovered a genetic 'switch' in fruit flies that contributes to increased alcohol tolerance. This switch also has implications for the development of fatty liver syndrome and cirrhosis in humans, with certain gene variations linked to excessive drinking behavior.
Researchers from Stanford University and colleagues have discovered a gene associated with human kidney aging, revealing new insights into the aging process. The study used sequential transcriptional profiling and eQTL mapping to identify genetic variants linked to kidney aging.
A genome-wide association study identified 22 regions of the human genome associated with eight blood measurements, including haemoglobin concentration and platelet counts. These genetic variants are linked to increased risk of heart disease, coeliac disease, and type 1 diabetes in European populations.
A new gene data tool has achieved greater accuracy than conventional methods in assessing individual risk for type 1 diabetes. By analyzing a large set of gene markers, the tool identifies a large ensemble of genes that interact together to predict disease risk.
Parkinson's Disease (PD) incidence increases with age, with a wide variation in onset age ranging from 20 to 90 years. Researchers have identified genes influencing PD onset age, which may help identify mechanisms and therapeutic targets for delaying symptoms.
Researchers identified semaphorin 5A, a gene involved in neuronal contact and communication, as a potential biological target for pharmaceutical intervention in individuals with autism. The study utilizes genome-wide association studies and extends prior research findings to brain tissue samples.
Research links CHRNA3 and CHRNA5 genes to increased lung cancer risk in African Americans, despite lower smoking rates. The study, published in Journal of Thoracic Oncology, confirms a stronger association with lung cancer risk than nicotine dependence.
A low protein diet boosts mitochondrial function, extending lifespan in flies. This discovery has implications for human aging and diseases such as obesity, diabetes, and cancer.
Researchers will explore epigenetic changes and their relationship with memory formation, cognitive decline, and Alzheimer's disease. The studies aim to understand how life experiences contribute to the biological changes of Alzheimer's and may lead to therapeutic interventions.
A study by IMpACT, an international collaboration of researchers, suggests that adult ADHD has a high genetic component. The findings indicate that multiple gene defects contribute to the disorder, with heritability estimates ranging from 60%. This research aims to identify risk genes for ADHD and develop effective treatments.
British scientists have discovered two new genes associated with Alzheimer's disease, CLU and PICALM. These findings provide valuable new leads in the race to find treatments and possibly cures for the common form of Alzheimer's disease.
A team of international scientists has identified two more genetic risk factors for Alzheimer's disease, which appear to be involved in elevated risk and confirmed the importance of APOE4. The new genes, APOJ and PICALM, are linked to smaller but still significant effects on Alzheimer's disease risk.
A new study confirms associations between SNPs and increased prostate cancer risk in Japanese men, similar to findings in European populations. Men with six or more risk alleles had substantially higher risk for prostate cancer.
A new genetic marker associated with ovarian cancer risk was discovered by a research group led by scientists from the University of Hawaii at Manoa. The marker is present among 32% of women and contributes an estimated 0.7% to ovarian cancer risk, particularly for serous carcinoma subtype.
A genome-wide association study has identified a novel genetic region on chromosome 9q21.31 as a susceptibility locus for asthma in Mexican children. The research highlights the importance of considering ancestry and environmental factors in understanding childhood asthma prevalence.
A common gene variant affects how people respond to Plavix, a leading anti-clotting medicine. This defective enzyme version reduces the drug's effectiveness in about 30% of the population, increasing their risk for strokes and heart attacks.
A genetic variation, CYP2C19*2, affects platelet response to clopidogrel and is associated with an increased risk of cardiovascular events. The study found that carriers of the variant had a higher likelihood of experiencing a cardiovascular ischemic event or death compared to non-carriers after 1 year of follow-up.
Researchers identified a genetic variation associated with an increased susceptibility for inflammatory disease, linked to nonfunctional CARD8 gene. The study suggests that loss of function of this gene may be one way in which populations evolve a more robust host response to deal with infectious diseases.
A comprehensive analysis of childhood acute myeloid leukemia (AML) found only a few genetic mistakes contributing to the disease. The study, published in the Proceedings of the National Academy of Sciences, highlights the need for more detailed examination of AML's complete genome.
Researchers at UC Berkeley and TGen found a gene variant, rs6457327, associated with nearly twice the risk of developing follicular lymphoma, a cancer of the body's disease-fighting network. The presence of the G allele was protective against the disease, while the A allele increased risk.
A study found five genetic variants associated with high systolic blood pressure in African-Americans, suggesting potential new treatments. The variants were located near genes that code for proteins involved in hypertension regulation, offering hope for improved prevention and treatment options.
Researchers at McGill University discovered significant genetic disparities between blood and tissue cells, undermining the validity of genome-wide association studies. This finding has implications for vascular diseases, such as abdominal aortic aneurysms, where tissue samples are often used.
A UBC study found that people's early-life experiences can lead to chronic diseases later in life by affecting gene expression and inflammation responses. The researchers identified a link between low socioeconomic circumstances in early life and increased risk of infectious, respiratory, and cardiovascular diseases.
Researchers at Mayo Clinic and University of California San Francisco have discovered a connection between DNA alterations on human chromosome 9 and glioblastoma. The study found that individuals with specific single nucleotide polymorphisms (SNPs) are 50% more likely to develop the aggressive brain cancer.
Genome-wide studies identify a vast array of genetic variation that may account for at least one third of the genetic risk for schizophrenia. The studies found a shared chromosomal neighborhood between schizophrenia and bipolar disorder, implicating an area of Chromosome 6 in immunity and gene expression regulation.
Researchers identified a significant association between gene variations on chromosome 6 and schizophrenia risk. The study, combining data from 27,000 individuals, found evidence of immune function's potential role in the disease.