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 recent study published in Molecular Aspects of Medicine has identified genetic markers that link an increased risk for developing both type 2 diabetes and Alzheimer's disease. The research, led by Dr. Giulio Maria Pasinetti, found specific genetic variations associated with higher susceptibility to both conditions.
A recent study by the University of Leicester has discovered a potential link between recessively inherited DNA sequences and heart disease. The research found that individuals with Coronary Artery Disease (CAD) had higher levels of genome-wide homozygosity, which is associated with an increased risk of CAD. The study's findings sugges...
Researchers analyzed large genome-wide association studies of migraine and heart disease to find no shared gene variants between the two conditions. Instead, genetic variations that protected against heart disease were found in people with migraine without aura.
Leonid Kruglyak, a renowned geneticist, received the 2015 Curt Stern Award for his pioneering work on understanding gene interactions and genome-wide association studies. His laboratory has developed powerful model organisms for studying complex genetic variation.
Researchers found two distinct gene signals associated with bone strength, one specific to girls and another for boys. These genetic variants are linked to lower bone mineral density, increasing the risk of wrist fractures in children. The study's findings may inform targeted recommendations for children carrying these genetic risks.
Researchers have uncovered four regions in the human genome where changes may increase pancreatic cancer risk, with specific variants linked to a 38% increased risk at position 17q25.1. The study confirms connections between pancreatic cancer risk and genetic variants linked to other cancers.
A gene previously suspected of influencing human obesity has been cleared of its connection, according to a new study. The researchers developed tools to analyze complex genomic regions, including the AMY1 locus, and found no association with body mass index.
A new blood test has been developed to identify men with a genetically inherited risk of developing prostate cancer. The test analyzes DNA variants associated with increased risk and has shown promise in identifying high-risk individuals.
An international genome-wide association study (GWAS) has identified three genetic variants associated with mucinous ovarian carcinomas (MOCs), offering insights into the biology of this disease. The research also highlights the link between MOCs and colorectal cancer, as well as the discovery of a key gene called HOXD9.
A study on the apple maggot pest discovered a massive genome shift in just one generation, with 32,000 genetic changes occurring within a single year. This significant finding highlights the importance of ecological selection at early stages of divergence and calls for further integration of studies on speciation and genome divergence.
The 2015 EMBO Gold Medal was awarded to Sarah Teichmann and Ido Amit for their groundbreaking research on gene expression, protein complexes, and immune systems. Their work has significantly advanced our understanding of cellular regulation and disease mechanisms.
A study at Brigham and Women's Hospital discovered a genetic variant, SLC9A9, associated with patients' likelihood of responding to interferon-beta treatment. The variant may also play a role in regulating immune cells involved in inflammatory diseases like MS.
A large-scale meta-analysis discovered 10 new genes that tune cholesterol levels in individuals. The study, led by researchers at the University of Helsinki, analyzed DNA data from over 60,000 people and identified genetic variants associated with cholesterol levels.
A new purpose for histone variant H3.3 has been discovered, preventing genetic mutations by keeping retrotransposons in place. This study reveals a basic mechanism of epigenetics in stem cells, which helps maintain the stability of the genome.
A multi-year study by Olga Troyanskaya and her team identified 144 functional gene interaction networks for organs as diverse as the kidney, liver, and whole brain. The technique, NetWAS, combines quantitative genetics with functional genomics to increase the power of GWAS and identify genes underlying complex human diseases.
Researchers create robust platform to investigate hundreds of mutations in a single experiment, allowing for the mapping of gene expression networks and understanding how genetic variations contribute to human diseases. The tool helps identify disruptions in gene regulation, leading to disease.
The Alana Foundation has awarded $1.7 million to Case Western Reserve University and MIT to advance research on new chemical compounds for treating Down syndrome. The study will test the effects of these compounds on cells involved in cognitive function, aiming to improve cognitive abilities in individuals with the condition.
Researchers discovered a gene candidate that plays a key role in autoimmune diseases such as type 1 diabetes and rheumatoid arthritis. The study found a robust association between the CLEC16A gene region and common variable immunodeficiency disorder.
A new study published in Biological Psychiatry found no genome-wide significant associations between genetic variants and autism spectrum disorder. Instead, the researchers suggest that clinical variability in autism may be due to factors such as epigenetic changes or environmental responses. The study's results have implications for f...
A recent genome-wide association study has found evidence that some people may be more genetically susceptible to noise-induced hearing loss. The study identified the Nox3 gene as a key gene for susceptibility to noise-induced hearing loss, which is a common workplace hazard.
A new study identifies N-acetyltransferase 2 as a key gene variant linked to insulin resistance, increasing the risk of type 2 diabetes and cardiovascular disease. Inhibition of NAT2 in a mouse model decreased insulin sensitivity, highlighting its role in complex diseases.
Researchers identified three genes that improve production by about 15 bushels per acre under both irrigated and dryland conditions. The study's results are promising, with potential benefits for Texas farmers who have struggled with low yields in recent years.
A large-scale genetic study of tuberculosis susceptibility has identified a key gene, ASAP1, that affects an individual's ability to fight the infection. The research found that variants of this gene impact susceptibility to TB and may hold clues to designing more effective vaccines for prevention.
A new study by McGill University researchers found that genetic data from African and European populations did not explain the racial mortality gap in cardiovascular disease. Lifestyle, education, and socio-economic factors are now considered more promising avenues for understanding racial health disparities. The study suggests that fu...
The study identified two genetic variants associated with rosacea in people of European ancestry, located near the HLA-DRA and BTNL2 genes. The research used data from over 46,000 23andMe customers and confirmed the association through validation studies.
MDC researchers identify a crucial gene regulator, GRHL2, that controls placental development in mice and humans. The study reveals that perturbations of this pathway can lead to developmental defects of the placenta and related pregnancy disorders.
Researchers analyzed DNA from three enslaved Africans with highly degraded skeletal remains to uncover their origins. The study's findings demonstrate the potential for genomic data to identify ancient individuals' genetic ancestry, especially in cases where historical records are limited.
Scientists have identified 15 new genetic 'hot-spots' linked to an increased risk of breast cancer, with some women having multiple variations that double their risk and others being three times more likely to develop the disease. The discovery could help identify high-risk women and improve cancer screening and prevention.
A study published in Molecular Biology and Evolution identifies a key set of nucleotide variants in the AS3MT gene, which are associated with increased resistance to arsenic. These protective variants were found at higher frequencies in Andean women, who have been exposed to high levels of arsenic for thousands of years.
Researchers identified a strong association between an East-Asian specific mutation and increased risk of wet AMD, highlighting the importance of HDL metabolism in the disease's pathogenesis. The study also uncovered three new genes linked to AMD for the first time.
A study found that a gene variant is associated with a higher incidence and severity of peripheral neuropathy in children treated with vincristine, a widely used anticancer agent. The variant, CEP72, was linked to an increased risk of nerve damage and pain in patients receiving vincristine treatment.
Researchers have identified a region in the human genome associated with peanut allergy in U.S. children, suggesting that genes may contribute to its development. The study also found evidence of epigenetic changes that may influence whether those with genetic susceptibility develop the allergy.
A genome-wide association study identified a genetic risk area on chromosome 6 linked to peanut allergy in US children of European descent. The study found two closely linked genes, HLA-DR and HLA-DQ, associated with epigenetic changes that may contribute to the development of peanut allergy.
Researchers identified the microtubule-associated protein tau (MAPT) gene as a key player in Alzheimer's disease. Carriers of the deleterious MAPT allele are at increased risk for developing AD and experience accelerated brain atrophy.
A new study reveals that genetics curricula are improving, but still lag behind, with minimal instruction in years three and four of medical school. Medical schools are adopting innovative teaching strategies to incorporate genomics into training.
Researchers analyzed genetic samples from over 300,000 individuals to find genetic variations associated with obesity traits. They discovered 140 locations across the genome that play roles in various obesity traits, including waist-to-hip circumference ratio.
Researchers identified significant differences in DNA methylation patterns between male and female brains during prenatal development. These epigenetic changes may contribute to the origins of disorders such as autism and schizophrenia.
The study identified 35 genetic factors associated with motion sickness, including those affecting balance, eye, ear, and cranial development, as well as glucose homeostasis. The findings suggest a role for the nervous system in motion sickness and may provide insight into other nausea-related conditions.
The Mayo Clinic has established a new program dedicated to finding answers and treatments for Lewy body dementia, a deadly disease causing progressive decline in mental and physical abilities. The program builds on previous research discoveries, including a genetic risk factor and severe sleep disorder linked to the disease.
A study published in Nature Neuroscience found strong associations between mechanisms related to immune function and changes in gene expression. The research identified shared biological pathways among psychiatric disorders, shedding light on the development of these conditions.
Researchers have identified genetic factors associated with increased iron and zinc levels in chickpea seeds, a staple food in developing countries. The findings support the development of molecular breeding strategies to enhance micronutrient content in chickpea cultivars.
Researchers have found four novel loci associated with eosinophilic esophagitis, a severe food allergy. The study suggests that genetic factors play key roles in the disease and may offer attractive targets for therapy. Understanding these biological networks could lead to tailored approaches for treatment.
GWATCH provides a secure platform for researchers to access and share protected human data for disease gene discovery. The platform offers a dynamic visualization tool that enables researchers to identify disease-associated genetic markers without risking patient privacy.
Scientists discovered eight shared molecular pathways and several key driver genes in Type 2 diabetes and cardiovascular disease. These findings suggest that treating the two conditions together could be effective, with potential therapeutic targets identified.
A new study pinpoints the complex genetic origins of multiple autoimmune diseases, including type 1 diabetes and MS. The researchers discovered that specific DNA variations, even outside genes, can alter immune system functions. Epigenetic characteristics of immune cells were also found to play a crucial role in disease development.
A genetic variant common in Latina women has been found to protect against breast cancer, with a significant reduction in risk. The variant, originating from indigenous Americans, is believed to interfere with the action of estrogen receptors and is more prevalent in Latina populations than previously thought.
Researchers at Hospital for Special Surgery have discovered a novel cell signaling pathway contributing to bone destruction in rheumatoid arthritis. The study suggests that RBP-J protein controls excessive bone erosion through a newly identified signaling pathway.
Researchers from Baylor College of Medicine have made significant breakthroughs in whole exome sequencing, confirming a molecular diagnosis in 25% of patients and identifying rare genetic events as major contributors to disease susceptibility. The technology is expected to revolutionize the field of pediatrics and medicine.
The University of Chicago has established a national Center of Excellence to study the genetics of drug abuse in rats, using genome-wide association studies and behavioral research. The center aims to shed light on the genes behind drug addiction and explore potential therapeutic interventions.
The largest genome-wide association study (GWAS) to date identifies over 400 gene regions influencing height, explaining about 20 percent of heritability. The study's findings prioritize many genes and pathways as important in skeletal growth during childhood, shedding light on the biology of height.
A new study has identified two genes, FOXC1 and PITX2, that underlie the development of cerebral small-vessel disease (CSVD), a risk factor for stroke. The study found that patients with mutations in these genes exhibited signs of CSVD, while zebrafish models with reduced Foxc1 levels mimicked symptoms of CSVD.
A new gene, Tpcn2, has been discovered as a key player in the development of diabetes. Variants in this gene have been associated with fasting glucose levels and insulin response in animal models, as well as human populations.
Researchers discovered that the STXBP5 gene influences blood clotting by regulating VWF, a key contributor to normal clot formation. However, they found that mice lacking this gene experienced increased bleeding instead of clotting, highlighting distinct roles for STXBP5 in endothelial cells and platelets.
A rare genetic variant in the APOC3 gene has been identified as a significant contributor to reduced triglyceride levels, associated with lower risk of cardiovascular disease. The study analyzed data from 4,000 healthy individuals and found that approximately 0.2% of the population carries this variant.
A global study of over 87,000 individuals from diverse ethnic backgrounds has discovered 23 new genetic factors that contribute to the development of prostate cancer. The research, led by Keck School of Medicine at USC, provides valuable insights into the causes of this disease and may lead to better prevention strategies.
The NIH has issued a final policy on genomic data sharing to promote the acceleration of biomedical research. The policy, which applies to all NIH-funded large-scale human and non-human projects, requires researchers to obtain informed consent from study participants for future use of their de-identified data.
A new study has found a wide range of epigenetic changes in children with Crohn's disease, which may be related to key environmental exposures. The research suggests that these changes could have early implications for clinical management of the disease.
SRAP markers exhibit high variability and are less technically demanding than traditional methods, making them suitable for various research fields including plant systematics, biogeography, conservation, and ecology. The new study suggests that these markers will be useful when paired with next-generation sequencing technologies.
Researchers developed a powerful new tool to identify genetic changes in disease-causing bacteria that drive antibiotic resistance. The technique, called genome-wide association study (GWAS), has the potential to inform control and treatment strategies for diseases like pneumonia and meningitis.
A study found that genetic variants of the CYP2C gene, including CYP2C9*3, are associated with severe cutaneous adverse reactions to phenytoin. Delayed clearance of plasma phenytoin was detected in patients with these reactions, suggesting a clinical link between the variants and the disease.