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 has identified 76 new gene regions associated with sleep duration, revealing a significant link between genetics and sleep patterns. The findings suggest that many genes important for animal models may also influence human sleep, opening up new avenues for understanding the regulation of sleep.
A meta-analysis of multiple studies identifies hundreds of gene variants contributing to Tourette's syndrome, with more severe symptoms associated with increased risk variants. The study suggests a continuous spectrum of tic disorders and raises the possibility of predicting TS development in children with mild tics.
Analysis of genetic data from over 94,000 individuals has revealed five new risk genes for Alzheimer's disease and confirmed 20 known others. The study also implicated a genetic link to tau binding proteins and suggested that therapies developed for early-onset disease could be applied to late-onset Alzheimer's.
A new study has identified areas of chromosomes associated with higher rates of asthma in those of African ancestry. The research used advanced technology to identify loci on chromosome 17q12-21, which may contribute to the increased risk of asthma in this population.
Scientists found that activating SIRT1 gene helps to excite neurons and improves symptoms of social isolation and loss of interest in male mice. The study suggests that drugs that activate SIRT1 might be effective therapy for some with major depression.
A newly discovered rDNA clock can accurately determine an individual's chronological and biological age. The study found that calorie restriction interventions accelerate or slow aging in mice, as well as in humans, making it a potentially widely applicable predictor of individual age.
A large-scale genetic analysis reveals associations between impulsive personality traits and psychiatric disorders, including substance use. The study identifies specific genes, such as CADM2 and CACNA1I, linked to impulsiveness and drug experimentation history.
A large-scale study has identified 28 novel genomic regions linked to type 2 diabetes in the Japanese population, including variants not found in European populations. The findings may lead to targeted therapeutic measures for preventing or treating diabetes in this ethnic group.
A new study found that children with genetic variants related to intelligence and educational attainment have larger total brain volume. Conversely, those at higher risk for attention-deficit hyperactivity disorder (ADHD) have smaller caudate nucleus volume.
A recent study published in JAMA Psychiatry found that higher levels of physical activity may causally reduce the risk of depression. The study used Mendelian randomization and genetic data to support this claim, revealing no causal relationship between depression and physical activity.
A genome-wide association study found genetic variants that influence head circumference and intracranial volume in 46,000 adults and children, revealing stable genetic influences during development. The study identified 9 novel loci associated with large effects on head circumference, including a rare variant of the TP53 gene.
Researchers from the University of Warwick have discovered a genetic mutation associated with higher risk for schizophrenia, which disrupts brain development and increases mental illness risk. A new pathway of genetic risk was found, providing possibilities for prevention and theoretical study before clinical symptoms emerge.
A study analyzing genome-wide data from 693 individuals in the Democratic Republic of Congo found that present-day Kuba are genetically diverse and similar to neighboring groups, suggesting historical unification during state centralization. This research underscores the potential of genomics to reconstruct societal histories.
A large-scale study identified 14 gene variants associated with PCOS, including new variants linked to metabolic and reproductive features of the disorder. The findings also suggest links between PCOS and other conditions like obesity, depression, and male pattern baldness.
A study identified 14 gene variants associated with polycystic ovary syndrome (PCOS), including three new variants. The findings suggest shared genetic architecture for different diagnosis criteria and links to other conditions like metabolic disorders, depression, and male pattern baldness.
Researchers developed SPAEML, a statistical approach that can accurately detect the underpinnings of simulated complex traits. The method was tested on datasets similar to Alzheimer's disease and flower structure in corn, identifying simulated markers and distinguishing between additive and interacting loci.
A new study found that noncoding mutations in promoter regions contribute to autism risk. The researchers analyzed data from 1,902 families and identified de novo mutations in genes involved in neuronal differentiation and developmental delay.
Researchers from Mount Sinai's Icahn School of Medicine published four scientific papers highlighting their work on brain genomics and psychiatric diseases. They analyzed over 2,000 brains to identify non-coding functional genomic elements associated with schizophrenia risk, autism spectrum disorder, and bipolar disorder.
A nationwide research team has discovered a strong relationship between early-onset atrial fibrillation and mutations in the TTN gene, which helps maintain heart muscle structure. Roughly two percent of patients with early-onset Afib had a loss-of-function mutation in TTN, increasing their likelihood of diagnosis at younger ages.
Researchers identified six distinct subgroups of Alzheimer's patients based on cognitive functioning and genetic data. The study found substantial biological differences among these subgroups, which may lead to the development of precision medicine approaches for Alzheimer's disease.
Researchers discovered 40 new genetic variants associated with an increased risk of colon cancer, validating 55 previously identified variants. The study also identified a rare protective variant for sporadic colorectal cancer, offering hope for targeted treatments.
The study found the earliest evidence of Siberian ancestry in Fennoscandia in a population inhabiting the Kola Peninsula, Russia, dating to around 4,000 years ago. Ancient DNA from Finland reveals that people genetically similar to present-day Saami people inhabited areas in much more southern parts of Finland than the Saami today.
A global team of researchers has identified 12 genomic regions associated with ADHD, suggesting a significant role in brain-related processes. The study found that diagnosed ADHD shares much of the same genetic background as traits of ADHD in the general population, at a correlation rate of around 97%.
Researchers found shared genetic factors between Alzheimer's disease and high blood lipid levels, suggesting potential for early diagnosis and targeted therapies. The study analyzed 1.5 million individuals and identified specific DNA variants that increase the risk of developing both conditions.
Researchers have assembled the largest sets of African genomic data, creating a resource to study genetic structure, disease, and protein function. They identified 10 new associations specific to African populations, including links between genetic variants and diseases such as alpha thalassemia and diabetes.
A recent GWAS analysis of latent autoimmune diabetes in adults (LADA) has uncovered new connections to type 1 and type 2 diabetes, suggesting a hybrid nature of the disorder. The study found that genetic signals linked to LADA were mainly shared with established variants known to be linked to T1D.
Researchers have established an in vitro model of human neuron development to investigate the complex genetic origins of mental illnesses. The study found that changes in gene expression during neural development were significantly associated with genetic risk for schizophrenia.
Researchers identified a genetic susceptibility locus on chromosome 5 that predisposes African-American children to migraines. The study suggests that genes involved in neurotransmitter release may be targeted for future migraine treatments.
A study by Kaiser Permanente researchers has found a specific place in the human genome associated with an increased risk of erectile dysfunction. Variations in the SIM1 locus were significantly associated with a 26 percent increased risk, independent of known risk factors.
A genome-wide association study has identified a genetic locus near the SIM1 gene as a significant risk factor for erectile dysfunction. The link to this locus is independent of previously known risk factors, suggesting a unique mechanism specific to sexual function.
Researchers have discovered three genetic variants associated with chronic back pain, which may provide clues for understanding its occurrence. The study found that these variants are linked to genes controlling skeletal development and spinal cord function.
A new study reveals that common genetic variants can affect the risk of rare developmental disorders, changing our understanding of their causes. The research found that these variants can contribute to a range of conditions, including autism and schizophrenia.
Researchers at UT Southwestern Medical Center used CRISPR genome-wide screening to identify the IFI6 gene as a potent antiviral gene targeting flaviviruses, including West Nile and Zika viruses. The study found that cells with a working IFI6 gene inhibited infection by these viruses in cell culture studies.
A study in Japanese patients found that common genetic variations, including copy number variations (CNVs), underlie both autism spectrum disorder and schizophrenia. The researchers identified 12 CNV loci associated with these disorders and observed an overlap of pathogenic CNVs between the two conditions.
A rare genetic variant in an intron of the WRB gene, located on chromosome 21, has been identified as a potential contributor to common childhood strabismus. The study involved 1,200 US patients and found that patients with this variant were more likely to have inherited it from their father.
Researchers identified 42 locations associated with 99 genes of interest in a genome-wide association study of over 500,000 people. The analysis found genes related to connective tissue cells and pathways, which could inform the development of new treatments for diverticulitis.
A large international collaboration identified 15 genetic variations linked to bone fracture risk, contradicting previous assumptions about clinical risk factors. The study highlights the importance of increasing bone strength in preventing fractures, rather than relying solely on calcium and vitamin D supplementation.
A recent genome-wide association study found that only two factors - bone mineral density and muscle strength - contribute to fracture risk, while vitamin D levels do not directly predispose people to fractures. Increasing bone strength is more effective in preventing fractures than widespread vitamin D supplementation.
Researchers found a specific single nucleotide polymorphism (SNP) associated with COPD and linked to the HLA-C gene, which presents proteins to immune cells. This discovery suggests a genetic link between autoimmune disease and COPD.
A new genome analysis method predicts risk for coronary artery disease, breast cancer, and type 2 diabetes based on genetic variants. Up to 25 million people in the US may be at triple the normal risk for coronary artery disease, highlighting the potential for early interventions.
Scientists developed a method to characterize the genetic contributions to traits and diseases, revealing that cognitive traits and psychiatric disorders are influenced by tens of thousands of gene variants. The study provides a 'big picture' of genetic influences, useful for designing future genetic studies.
Research reveals that genetic factors and age are the strongest predictors of humoral immune responses to common pathogens and vaccines. The study also found that older individuals and women exhibit stronger antibody responses against most antigens.
Researchers from Michigan Medicine have identified 151 genes associated with atrial fibrillation through a large genome-wide association study involving over one million individuals. The study also developed a genetic risk score that could help identify high-risk individuals and monitor them accordingly.
Researchers have identified a group of genes strongly related to childhood nephrotic syndrome, an incurable disease with unknown cause. The study found that specific HLA haplotypes are associated with an increased risk of developing the condition.
A genome-wide association study identified novel risk loci for non-syndromic orofacial clefts in an African population, refining the genetic architecture of the condition. The study also revealed new genetic associations with cleft lip and palate sub-phenotypes.
Researchers discovered 44 chromosomal regions linked to abnormal heart rhythms, including atrial fibrillation and heart block. The study's findings could lead to better treatments and a greater understanding of the heart's electrical activity.
A large international study has identified new genetic risk factors for allergic rhinitis, accounting for about eight percent of all cases. The study, involving nearly 900,000 participants, revealed loci in the human genome associated with an increased risk of disease.
A new study identifies the SD1 gene as responsible for the deepwater rice adaptation, which enables plants to rapidly grow taller to keep above floodwaters. This discovery highlights the intrinsic complexity of plant adaptation strategies and could offer solutions for breeding modern rice varieties to cope with climate change.
Researchers discovered that the tumor suppressor protein ARID1A controls global transcription in ovarian epithelial cells, regulating a large set of genes. Its loss causes dysregulation of important cell functions, including DNA repair and cell proliferation.
A new study found that psychiatric disorders such as schizophrenia and bipolar disorder have similar genetic patterns, which may not be reflected in current diagnostic categories. The research suggests that a single mechanism regulating concentration could drive both ADHD and schizophrenia.
Two studies provide insight into molecular changes prior to arthritis onset, identifying gene signatures associated with disease development. Researchers found that specific autoantibodies and B-cell receptor clones can predict imminent onset of rheumatoid arthritis in at-risk individuals.
A study published in EULAR 2018 found that childhood and adult obesity are associated with an increased risk of developing hip and knee osteoarthritis, but not hand osteoarthritis. The research used genetic variants to investigate the causal relationship between obesity and OA.
Ancient DNA analysis of Icelandic populations reveals a strong connection to Scandinavian and British-Irish Isles, whereas modern Icelanders show less similarity. A second study explores the genetics of first Americans, suggesting a deep split in North and South American populations occurred south of the Laurentide ice sheet.
A new study presents a novel statistical algorithm called GSA-SNP2 that can identify potential disease genes more accurately and cost-effectively. The algorithm is effective with less genomic data and provides high power and decent type I error control.
A new genome study reveals that effective population sizes dropped substantially after European and African immigration, but rebounded later, with the smallest bottleneck occurring in Puerto Rico. The study's findings can help understand health risks and select populations for disease studies.
Researchers at MIT and Stanford University present a new system for protecting genomic data privacy in large-scale biomedical studies. The system uses secret sharing to divide sensitive data among multiple servers, enabling efficient privacy protection for millions of genomes.
A new study published in Neuron reveals that common genetic variants are the primary drivers of migraine risk, with a greater burden of variants linked to earlier onset and more severe symptoms. The research also found that rare Mendelian genes play a smaller role in shaping the genetic landscape of migraines.
A meta-analysis of over 135,000 people with major depression and 344,000 controls identified 44 genomic variants significantly associated with the condition. The study also found that major depression shares genetic links with schizophrenia, obesity, and sleep quality.
The European Genome-Phenome Archive (EGA) stores nearly 4,000 genomic datasets, facilitating research into cancer, cardiovascular and rare diseases. The EGA enables cooperation among scientists, accelerating medical genomics in Spain.
Greater grip strength and physical activity are associated with reduced risk of heart attacks and stroke in individuals with a genetic predisposition for heart disease. Physical activity also reduces cardiovascular events by 49 percent among high-risk individuals.