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 new study reveals that fruit fly aggression is correlated with smaller brain parts and involves complex interactions between networks of important genes. The findings also show that certain portions of the fly brain affected by hyper-aggressive flies, and that calming did not necessarily come through chemistry.
A large-scale genetic study has uncovered new genes associated with type 1 diabetes, a condition affecting 200 million people worldwide. The research adds to knowledge of gene networks involved in the origin of this complex disorder.
Researchers develop a comprehensive genetic model that integrates various types of genetic variation, including single gene changes, chromosomal alterations, and de novo mutations. This framework recognizes the importance of both inherited and new genetic variants in disease susceptibility.
A genetic variant in the GLCCI1 gene may explain why some people with asthma do not respond well to inhaled corticosteroids. Researchers found that individuals with two copies of the variant responded only one-third as well to steroid inhalers as those with regular genes.
Researchers analyzed genomes from East Asian, European, and African populations to discover the San people diverged from other humans 130,000 years ago. This finding contradicts previous estimates, providing a richer understanding of human evolution.
Research reveals 11 genomic regions associated with mental illness, including six previously unknown areas. The findings provide fresh insight into the causes of schizophrenia and bipolar disorder, potentially leading to new treatment options.
A team of researchers has found that common genetic variants contribute to the risk of schizophrenia and bipolar disorder, with many variations found in both diseases. The study identifies six new molecular evidence links with these diseases and suggests disruption of development processes as a factor in mental disorders.
A large international study of over 50,000 adults has identified 11 common genetic variations associated with an increased risk of schizophrenia and bipolar disorder. The study found that many of these variants contribute to both diseases, providing new molecular evidence for the causes of these chronic brain disorders.
An international study identifies 28 new gene regions associated with blood pressure, including a previously unknown physiologic pathway involved in blood pressure control. The findings suggest potential targets for new hypertension drugs and may lead to improved treatment options for cardiovascular complications.
Researchers identified 29 DNA sequence variations linked to blood pressure, suggesting a complex genetic regulatory mechanism. The study pooled data from over 200,000 people worldwide and found common genetic variants in individuals of Asian and African ancestry.
Two new genetic variants, rs4129267 and rs7130588, linked to increased asthma risk have been discovered. These variants may lead to the development of a new treatment for asthma using drugs currently used to treat rheumatoid arthritis.
Researchers identified 37 previously unknown genetic risk loci associated with complex common diseases and elucidated their effect on human metabolism. The study provides a comprehensive evaluation of genetic variance in human metabolism, combining genome-wide association studies and metabolomics.
The study reveals 37 new variants associated with common diseases, including chronic kidney disease, type 2 diabetes, and blood clotting. The researchers also identified a possible mechanism to detoxify substances, which could affect the risk of developing kidney disease.
A study published in Nature Genetics identified six new genetic variants associated with type 2 diabetes in South Asians. The research found that people of South Asian ancestry are up to four times more likely to develop the disease, affecting around 55 million worldwide.
A new gene, MCF2L, associated with osteoarthritis has been identified through a genome-wide association scan using the 1000 Genomes Project data. The variant is found on chromosome 13 and regulates nerve growth factor (NGF), suggesting that MCF2L plays a role in the development of osteoarthritis.
Researchers at Mount Sinai School of Medicine will identify genetic markers for each patient enrolled in the study, inputting them into electronic medical records for tailored treatment. The study aims to improve management of heart disease risk factors and prevent onset.
A defective gene can contribute to the onset of rheumatoid arthritis by disrupting inflammatory responses, and a new mouse model reveals this connection. Researchers identified A20 as a key player in controlling inflammation, suggesting it may be a target for developing new treatments.
Scientists at the Allen Institute have identified complex cellular patterns in brain development, suggesting multiple mechanisms beyond Reelin involved in proper neuron migration. The findings have major implications for understanding brain disorders like autism.
A new national collaboration of asthma genetics researchers has identified a novel gene association specific to populations of African descent, including the previously unreported PYHIN1 gene. The study also replicated four other gene associations with asthma risk, offering promising insights into the genetic roots of the disease.
Researchers identified three new susceptibility loci for adult asthma in the Japanese population through a genome-wide study of 4836 individuals. The findings provide insights into the genetic factors contributing to asthma and may lead to more effective treatment techniques.
Researchers will create the largest library of sickle cell disease-specific iPS cell lines to study the disease's genetic context and develop new therapies. The goal is to understand how specific genes behave in different tissues and clarify the mechanisms by which a gene associated with a disease affects tissue biology.
Researchers at BGI developed a novel pipeline to detect structural variations (SVs) in whole genome assembly, identifying 277,243 SVs with high accuracy and precision. The study demonstrates the potential of de novo assembly for creating comprehensive SV maps.
Researchers found two genetic variations linked to increased risk of second cancers in childhood Hodgkin's lymphoma patients treated with radiation. These markers appear to decrease activation of the PRDM1 gene, which can protect against cancer when exposed to radiation.
A comprehensive whole sequence variation map of rhesus macaque has been published, providing a valuable resource for evolutionary and biomedical research. The study identified 5.5 million SNPs and 125,150 structural variations, including annotated nonsynonymous SNPs related to human disease and drug-target genes.
Scientists at Buck Institute discover that inhibiting an mRNA translation factor increases stress response genes and extends lifespan in C. elegans. The study highlights the importance of mRNA translation in aging and may lead to the development of therapeutics to slow age-related diseases.
A genome-wide study identified a genetic variant associated with liver cancer development in chronic hepatitis C virus carriers. The DEPDC5 SNP was found to roughly double the odds of developing HCC among Japanese individuals with chronic HCV infection.
A genome-wide association study has identified a novel genetic variation in the BAZ2B gene linked to an increased risk of sudden cardiac arrest. This variation may predispose individuals to double their risk of having a sudden cardiac arrest, a disorder that is fatal in about 95% of cases.
Large-scale genome-wide association studies have identified 15 gene variants associated with white blood cell count diversity among whites, African-Americans, and Japanese. These findings could lead to new clinical advances, including earlier disease risk assessments and potential gene therapies.
Researchers developed a new strategy to improve the outcome of genome-wide association studies by linking initial association signals to functional DNA changes. The framework streamlined discovery of functional DNA variants underlying GWA signals, benefiting scientists worldwide.
Researchers at Boston University have found four new genetic variants associated with a higher risk of systemic lupus erythematosus (lupus) in African American women. The study, based on data from the Black Women's Health Study, reveals that these genetic factors may be shared among women of different genetic ancestries.
The study discovered two novel genetic associations with Parkinson's disease, one near the SCARB2 gene and another near SREBF1 and RAI1 genes. The research also replicated twenty previously known genetic associations, providing strong evidence for the web-based design used in this study.
Researchers have identified three new genes associated with the risk of progressive supranuclear palsy (PSP), a rare neurodegenerative disease. The study found that genetic variations in EIF2AK3, STX6, and MOBP contribute to PSP risk, while also shedding light on the underlying cause of the disease.
A genome-wide association study found three SNPs associated with PSP, suggesting they may contribute to disease susceptibility. These genes are involved in tau protein regulation and membrane recycling.
23andMe has built one of the world's largest databases with over 100,000 individuals' genetic data, facilitating rapid recruitment for genome-wide association studies. The company's novel research approach has led to new genetic associations for common traits and rare diseases.
Researchers identified FYCO1 as a key gene in the development of autosomal-recessive CCs. The study found that FYCO1 mutations lead to abnormal protein accumulation, disrupting lens transparency.
Researchers have expanded on existing knowledge of Alzheimer's disease by identifying a novel location within the MS4A gene cluster associated with the condition. The study suggests that the immune system plays a key role in its progression, with several genes implicated in allergies and autoimmune diseases.
A team of researchers has pinpointed genome regions that contribute to the debilitating lung disease associated with cystic fibrosis, providing insight into its causes and potential diagnostic markers. The study also points to new therapeutic approaches for related diseases such as COPD.
Researchers at Washington University and King's College London have independently identified a DNA region on chromosome 3 associated with depression. The region contains up to 90 genes and shows genome-wide significance, suggesting that many genes may be involved in depression.
A new genomics study has identified genetic patterns in children with CVID, a complex and unpredictable immune disorder. The researchers have developed a predictive algorithm that can distinguish CVID from healthy controls with 99% accuracy.
A new study identifies SLC6A15 as a novel susceptibility gene for major depression, which may lead to the discovery of novel antidepressant drugs. The researchers found that lower expression of SLC6A15 in the hippocampus is linked to increased stress susceptibility and altered neuronal circuits.
The ENCODE project has released a comprehensive guide to its DNA elements database, providing a framework for understanding the human genome's function. The dataset enables scientists to associate single nucleotides with diseases and identify new paths for studying noncoding variants.
A study published in the Proceedings of the National Academy of Sciences has identified a novel gene, AUTS2, associated with differences in alcohol consumption. The research team analyzed data from over 48,000 individuals and found that this gene contributes to individual variations in drinking patterns.
Studies reveal Tet protein maintains pluripotency in stem cells by silencing differentiation genes while activating pluripotency genes. The protein's product, 5-hydroxymethylcytosine, plays a crucial role in regulating transcription and is the first genome-wide location of its role in development and disease.
Researchers mapped chromatin marks in nine cell types and linked non-coding SNPs to regulatory networks. This study provides insights into the functions of non-coding regions associated with human disease.
Researchers have identified 15 new genetic regions associated with an increased risk of developing primary biliary cirrhosis. The study used genome data from 2,500 patients and 7,500 healthy individuals, tripling the number of known genetic regions to 22.
Researchers identified a single genetic mutation in the CUBN gene linked to albuminuria, a condition indicating kidney disease, in both diabetic and non-diabetic individuals. The study's findings have significant implications for understanding the mechanisms behind kidney disease and potentially leading to novel treatment targets.
A large-scale international study has identified 13 new gene regions that predispose people to heart attacks, doubling the number of known genetic factors. The study's findings suggest that genetic profiling may become a routine part of clinical care in the near future.
Researchers discovered 13 novel genetic variants linked to coronary artery disease, including seven related to LDL cholesterol and hypertension. The findings shed light on previously unknown mechanisms increasing heart disease risk.
A massive study has identified 13 new genes linked to coronary artery disease, with most operating through unknown mechanisms. The discovery opens up new avenues for therapies and highlights the complexities of heart disease.
A new study reveals a previously unrecognized susceptibility factor for bipolar disorder, with genetic variation in the neurocan (NCAN) gene associated with an increased risk. The findings suggest that NCAN variants may disturb neuronal processes in patients with bipolar disorder, leading to cognitive deficits.
UK child psychiatrist Sir Michael Rutter reviews the latest scientific developments in autism research, covering clinical features, genetics, environmental factors, and psychological treatments. Despite substantial gains in knowledge, prevention and cure remain major puzzles in autism research.
Researchers found a rare genetic glitch in patients with schizophrenia that could lead to improved treatments. The VIPR2 gene mutation was linked to overactive VIP activity, which can impact brain development and learning, offering potential targets for new therapies.
Researchers have identified a genetic variation linked to bipolar disorder, suggesting that Piccolo contributes to the condition. The study used postmortem tissue and genome-wide association studies to find this link.
Researchers at the University of California, San Diego, develop novel method to detect long-distance chromosomal interactions and find association with CAD risk from altered inflammatory signaling response. The study identifies 33 regulatory elements in the 9p21 interval involved in cellular signaling and response to inflammation.
A new study couples a complex genetic screening technique in humans with functional validation of results in flies to study human disease. The strategy has the potential to be an effective approach for understanding complex disorders, such as Alzheimer's disease.
Researchers have identified five additional genetic variations that contribute significantly to Parkinson's disease risk, with 20% of patients carrying high-risk variants being two-and-a-half times more likely to develop PD. The study highlights the importance of common genetic variation in the development of this debilitating condition.
Researchers found that a single DNA variation helps protect African-Americans from coronary artery disease, with those having the alternative genetic code having a fivefold reduction in artery narrowing or clogging. The protective effect is even more pronounced when individuals inherit two copies of the guanine gene variant.
A new study identifies genetic variants associated with coronary artery disease (CAD) and heart attacks. The researchers found that certain genetic profiles increase the risk of CAD and heart attacks in individuals with CAD, while blood group O offers protection against heart attacks.
A team of international researchers led by Daniel J. Rader will investigate the molecular mechanisms of six novel genes associated with heart disease. The five-year study aims to identify new potential therapeutic targets and establish an infrastructure for systematic evaluation of future genetic association studies.
Researchers at Mayo Clinic have identified a gene variant that appears to protect against frontotemporal lobar degeneration (FTLD) in high-risk individuals with progranulin mutations. The study found that carrying two copies of the protective TMEM106B allele delays or prevents FTLD onset, suggesting it may increase progranulin levels.