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 comprehensive epigenome map has been created, revealing genetic control elements linked to hundreds of human traits. The researchers identified 300 modules controlling specific biological processes and predicted links between control elements and target genes.
A new software package called Tractor allows researchers to include people of diverse ancestry in large-scale gene discovery efforts. This increases the power of genomics in understudied populations by pinpointing genetic associations to disease at many more spots across the genome.
A recent study analyzing over 250,000 genomes identifies genetic similarities between PTSD and other mental health disorders, including anxiety and bipolar disorder. The research also suggests that certain medications used for other conditions may be effective in treating individual symptoms of multiple disorders.
A recent study found 18 specific gene loci linked to PTSD, providing potential new targets for treatment. The research validated the disorder's underlying biology and genetic overlap between symptoms.
Researchers have discovered a 19-amino acid insertion helix in the Orc4 subunit of yeast ORC that enables human-like DNA binding, transforming yeast into a humanized ORC. This finding provides new insights for cancer therapy and human development, including potential targets for anti-cancer drug screening.
Researchers identified genetic factors increasing pneumonia risk in patients of European and African ancestry, highlighting potential disparities in COVID-19 outcomes. The study may aid efforts to identify high-risk patients and develop targeted treatments.
A large-scale study has found specific genetic variants that increase the risk of nocturnal enuresis, commonly known as bedwetting. The study provides new insights into the processes causing this widespread phenomenon and highlights the importance of genetic factors in its development.
A new statistical method called GLIMPSE allows for the inference of complete human genomes from small amounts of data, providing a cost-effective alternative to current approaches. This enables researchers to analyze understudied populations and uncover associations in complex traits such as Alzheimer's disease, cancer, and obesity.
Noncognitive skills, distinct from cognitive abilities, significantly impact educational attainment and life outcomes. The study identified 157 genetic locations related to these skills, which contribute equally to the heritability of educational attainment as cognitive ability.
A long-term study has discovered dozens of new genetic markers associated with bone mineral accrual, which could help identify causes of osteoporosis earlier in life through genetic testing. The findings suggest that risk of fractures occurring later in life may be identifiable in childhood and could lead to tailored interventions.
Researchers found a key gene, OsTCP19, that helps rice adapt to low soil nitrogen levels. By introducing this gene into modern cultivars, farmers can improve crop yields while reducing fertilizer use, leading to more sustainable agricultural practices.
Researchers identified new molecular mechanisms driving late-onset Alzheimer's Disease and a promising therapeutic candidate, ATP6V1A, which improved neuronal function when normalized. The study also found potential broad neuroprotective effects for ATP6V1A.
A new study by Northwestern University researchers found that historical bias affects COVID-19 research, with only 611 out of 2,064 relevant genes being studied. The study highlights the need to explore understudied genes and broaden scientific study beyond current trends.
A vast majority of doctors and parents believe genomic sequencing is beneficial for managing care in infants with diseases of unknown origin. The test reveals genetic variations responsible for the child's disease, even if results are negative.
A recent study has identified genetic variants associated with reproductive success, which may provide insights into the biology of fertility and infertility. The research found that diverse biological mechanisms contribute to reproductive success, implicating both neuroendocrine and behavioral influences.
Genetic correlations between IBD, stress, and depression have been uncovered through 3D genomic mapping, implicating the hypothalamus in IBD pathogenesis. The study found enrichment of IBD-associated genetic variants in hypothalamic-like neurons and colonoids.
The COVID-19 Host Genetics Initiative presents the results of a genome-wide association study, exploring genetic determinants of COVID-19 susceptibility, severity, and outcomes. The initiative brings together over 1,100 researchers from 46 countries to share data and accelerate research.
A genome-wide association study identified a significant signal from the human leukocyte antigen (HLA) region on chromosome 6, specifically the HLA-B *55:01 allele, associated with a 33% higher relative odds of penicillin allergy. This finding is based on self-reported data and electronic health records of over 1 million individuals.
A genome-wide association study found two genetic variants associated with high blood pressure and kidney toxicity in cancer patients treated with bevacizumab. The variants, rs6770663 and rs339947, can be used to predict which patients are at risk of severe side effects.
Research suggests that individuals born with high birth weights may be at higher risk of developing atrial fibrillation later in life. A study found that participants with a birth weight 482 grams above the average were 30% more likely to develop the heart rhythm disorder. The researchers recommend adopting a healthy lifestyle and payi...
Researchers found sequence variants that influence how people perceive and describe fish, licorice, and cinnamon odors. The study identified three genes, including TAAR5, which affects perception of fish odor containing trimethylamine, as well as common olfactory gene variants influencing licorice and cinnamon sensitivity.
A study published in Nature Genetics developed a more accurate predictor of coronary artery disease based on genetic factors by comparing genome-wide association analysis across different ancestries. The researchers identified 48 genetic loci associated with the disease, including eight previously unknown variants.
Researchers have identified over a dozen new genes associated with abdominal aortic aneurysm, adding to the understanding of disease mechanisms. The study found that diastolic blood pressure is likely a significant factor in developing the condition.
A study of 45,000 healthy adults found associations between 160 genes and brain shrinkage in the cortex, a dimply outer layer of the brain. The findings may lead to new targets for developing drugs to intervene before disease symptoms appear.
A genome-wide association study has identified genetic markers associated with a higher risk of developing capecitabine-induced hand-foot syndrome. The study found that patients with low levels of R-cadherin and involucrin were more likely to experience severe skin symptoms.
A study found genetic variants associated with a dental anomaly and smaller body size in dogs, particularly in toy breeds. These variants affect the processing of growth hormone and RNA enzymes, leading to reduced height and weight.
A new study published in Hepatology has identified a gene, Fas Associated Factor Family Member 2 (FAF2), that may reduce the risk of developing alcoholic cirrhosis. The researchers found that this gene is involved in lipid droplet organization pathway and is linked to other genes that increase the likelihood of liver disease.
A genome-wide association study identified a locus in the HLA-B gene associated with penicillin allergy, with carriers having a 33% higher relative odds. The study also detected a variant in the PTPN22 gene linked to autoimmune diseases and drug-induced liver injury.
Women with Alzheimer's live longer and experience less severe symptoms due to the protective effects of their second X chromosome. The study found that women carrying a specific variant of the KDM6A gene have twice the dose of protective proteins, giving them greater protection against the disease.
A new study identifies two genes, TMEM106B and RBFOX1, that regulate gene expression in the aging brain and are linked to both Alzheimer's disease and Limbic-predominant Age-related TDP-43 Encephalopathy (LATE). The findings suggest a shared molecular basis for these diseases, which may lead to new treatments and prevention strategies.
A study published in Annals of the Rheumatic Diseases identified a genetic variant associated with an increased risk of interstitial lung disease among Japanese rheumatoid arthritis patients. The variant, located in the RPA3 gene, is linked to fibrosis and triggers complications in RA patients.
Researchers identified thousands of potentially functional SNPs associated with changes in gene expression, highlighting the unique value of using iPSC-derived neurons as a model. The study advances understanding of genetic causes of neuropsychiatric disorders and offers a path to novel disease treatments.
A large international study identified key genetic contributors to stroke risk in individuals of African ancestry, providing insight into ethnic-specific and global risk factors. The study found that a common variation near the HNF1A gene was strongly associated with increased stroke risk.
A study by University of Tsukuba researchers found that patients with long stretches of repeat DNA sequences in the FLI1 gene are more likely to develop systemic sclerosis. The study suggests that these genetic variations may disrupt FLI1 expression, contributing to the disease's pathogenesis.
Researchers used high-quality coral genomes to study variable responses to climate change and identify genetic variants associated with bleaching. They found a polygenic risk score could predict bleaching potential in the wild, while also revealing genetic diversity in heat stress response genes.
A team of researchers from Children's Hospital of Philadelphia used a new method to pinpoint potential disease-causing changes in the genome and identified two new potential therapeutic targets for lupus. The study focused on follicular helper T cells and created three-dimensional maps that match variants with genes they likely regulate.
A new study identified a significant common genetic component in BECTS, suggesting potential new treatments, and found maternal smoking in pregnancy quadrupled the risk of BECTS. The association with CHRNA5 gene opens up research possibilities into how epilepsy is caused.
Researchers identified reproductive and metabolic subtypes of PCOS associated with novel gene regions, promising to transform understanding of the disorder. The study used clustering of clinical, metabolic, and hormonal data from women with PCOS, revealing two distinct subtypes with different genetic architectures.
A pioneering study found specific genetic changes affect gut bacteria populations, paving the way for understanding disease causes. Researchers identified 13 DNA changes related to changes in gut bacteria presence or quantity.
An international study has characterized genes in ancient DNA from isolated Indonesian villagers, revealing potential immune-boosting properties. The research, led by TGen, aims to better understand how genetics drives disease-risk across diverse populations and could lead to new treatments for infectious diseases.
A genetic risk score has been developed to help identify individuals who are likely to fracture early, even those with normal bone mass density. The study involved 11,351 participants and found that the genetic risk score can predict the timing of fractures in elderly people.
A recent study analyzing data from over three million individuals found widespread sex-differential participation bias, suggesting that men and women are more likely to participate in genetic studies based on different characteristics. This bias can impact the accuracy of results and conclusions drawn from genetic association studies.
Research involving 160 genetically distinct strains of fruit flies found that while dietary restriction extended lifespan, its effect on healthspan was less consistent. The study suggests that healthspan, rather than just lifespan, should be the primary focus for those seeking to improve aging outcomes.
A new study using ancient DNA found at least three population dispersals that brought people to the Caribbean, challenging traditional views of the region's early settlement. The researchers also discovered biological and cultural diversity among the early settlers.
Recent genome-wide association studies identify genetic variants associated with schizophrenia, promising new treatments targeting the underlying biology and pathophysiology of the disorder. Researchers review efforts to bridge the gap between genetic findings and innovative treatments.
Researchers detail accurate privacy-enhanced genome-wide association studies of over 25,000 individuals using homomorphic encryption to yield results 30 times faster than prior secure computation methods. The technology enables collaboration on large-scale genomic and clinical studies while protecting individual participant privacy.
An international team analyzed genome-wide data from 89 ancient individuals in the central Andes, revealing early genetic distinctions between groups, population mixing, and surprising genetic continuity. The study provides a comprehensive portrait of pre-Columbian Andean civilizations.
A large-scale genome-wide study has identified 301 distinct genetic signals associated with type 2 diabetes in East Asians. The research highlights the importance of studying different ancestries and expands the number of genetic variants linked to the disease, providing new insights into its pathophysiology.
A large-scale study has identified 301 distinct genetic links to type 2 diabetes among 433,540 East Asian individuals. The findings provide insight into the biological basis of the chronic metabolic disorder and highlight the importance of studying different ancestries.
The study demonstrates that genomic information can identify individuals with a lifetime risk of more than 60% of developing cardiovascular diseases and diabetes. Combining genetic risk data with clinical risk calculators improved the accuracy of current risk estimation approaches.
Researchers analyzed DNA haplotypes associated with hereditary prostate cancer (HPC) and found that one mutation increased risk by 22-fold. The study identified 183 variants linked to HPC at genome-wide significance, shedding light on the genetic factors contributing to disease.
Researchers created H-MAGMA, a computational tool that links non-coding genetic variants to their target genes in brain disorders. The study found that genes associated with psychiatric disorders are typically expressed early in life, while neurodegenerative disorder-associated genes are expressed later.
A systematic review of 149 studies has identified 24 genetic variants that increase the risk of endometrial cancer by up to 3.16 times. The study provides a polygenic risk score for personalized risk assessment, facilitating targeted screening and prevention strategies.
Researchers Alyssa Johnson and Adam Bohnert have discovered a new class of lysosomes, dubbed 'tubular lysosomes,' which can form complex networks that affect aging, disease, and stressors. Their findings could lead to medical therapies and treatments to extend health and longevity in humans and animals.
A large genetic risk study found that adoptees had a slightly elevated genetic risk for depression, schizophrenia, and neuroticism. The adoption process did not increase the impact of this genetic risk, suggesting that both environment and genetics play a role in mental health problems.
A genome-wide association study found nine gene locations associated with eating certain foods, including tofu, cheese, and tea. The study identified six genetic variants linked to at least one disease phenotype, including several types of cancer and type-2 diabetes.
The exposome represents the cumulative health effects of environmental exposures. A review article in Science calls for a coordinated international effort to characterize the exposome at scale, accounting for non-genetic risk factors and potential preventable exposures.
A University of Miami study has found that the profiles of genes influencing cognition are similar across people with schizophrenia, bipolar disorder, and the general population. This discovery could lead to more effective therapies for improving cognitive function in patients with severe mental illness.
A new study published in Science Advances identifies several common genetic pathways linked to compulsive behavior and addiction, including those related to heavy alcohol consumption. The research used genome-wide association studies and model organisms to pinpoint the genes responsible for high levels of alcohol intake.
A large-scale study of over 100,000 people revealed new genetic targets for a variety of diseases, including autoimmune disorders and cancer. The research also identified potential repurposing of existing drugs to target these conditions.