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.
Genome-wide studies identify a vast array of genetic variation that may account for at least one third of the genetic risk for schizophrenia. The studies found a shared chromosomal neighborhood between schizophrenia and bipolar disorder, implicating an area of Chromosome 6 in immunity and gene expression regulation.
A recent study published in the Journal of the American Medical Association (JAMA) suggests that C-reactive protein, a commonly used marker for coronary heart disease risk, may not cause the disease. Researchers found no association between genetic variations in the gene coding for C-reactive protein and coronary heart disease risk. Ho...
A recent genetic association study failed to support a causal relationship between C-reactive protein levels and coronary heart disease (CHD). The study, published in JAMA, found that variants associated with lower CRP levels were not linked to reduced CHD risk.
Researchers found the malfunctioning ABCG2 gene can lead to high urate levels, causing inflammation and pain. The gene is responsible for transporting urate out of the kidney and into urine, and its mutation may be linked to 10% of gout cases in Caucasians.
Two new studies have identified genetic events that increase a child's susceptibility to high-risk neuroblastoma. Common variants in the BARD1 gene and a specific copy number variation at chromosome 1q21.1 are found to be associated with the development of this childhood cancer.
A meta-analysis of 14 studies failed to find an association between a genetic marker, stressful life events, and the risk of major depression. The study did find a significant association between the number of stressful life events and depression.
A research team has identified genetic variants that influence the timing of female puberty, a finding with implications for later life health outcomes. The study, published in Nature Genetics, also found a link between earlier menarche and increased body mass index.
Researchers at Mayo Clinic have identified a novel molecular path linked to primary biliary cirrhosis, a disease affecting 1 in 2,500 Americans. The study found variants of two genes, interleukin 12A and interleukin 12RB2, strongly associated with the condition.
Scientists discovered that a protein complex called cohesin plays an important role in regulating genes in humans, particularly in the rare genetic disease Cornelia de Lange syndrome. The study identified hundreds of genes that were dysregulated compared to controls, and also detected gene expression profiles unique to CdLS.
A genome-wide association study identified 20 single nucleotide polymorphisms related to an earlier menopause, which could affect fertility in women. The study suggests that understanding these genetic variants may help improve fertility treatment for women with infertility issues.
A recent study found that genetic variations involving endothelial dysfunction and platelet aggregation contribute to depressive symptoms in individuals with heart disease. Researchers discovered a significant association between one marker within the vonWillebrand factor gene and depressive symptoms.
Researchers have identified two chromosomal regions associated with the age at which females experience their first menstrual period (menarche) and the onset of natural menopause. The study may help shed light on the prevention of breast and endometrial cancer, osteoporosis, and cardiovascular disease.
Researchers used sophisticated statistical analyses to study genomic patterns of human population structure, revealing 18 significant axes of variation. These findings provide insights into the history of human evolution, evolutionary forces shaping local populations, and geographic correlations with genetic variation.
A large-scale genome-wide association study identified eight key genes associated with high blood pressure, including ATP2B1, CACNB2, and CYP17A1. The research provides new insights into blood pressure regulation and may lead to the development of novel therapeutic approaches.
A team of researchers has identified three genes containing common mutations that are associated with altered kidney disease risk. The UMOD gene produces Tamm-Horsfall protein, which is normally present in healthy individuals' urine, but its relationship to chronic kidney disease risk was not known previously.
A recent genetic study has confirmed the immune system's role in narcolepsy, revealing that autoimmunity plays a crucial part in the disorder. The study found unique variants of genes HLA-DQB1*0602 and TCRA associated with narcolepsy-cataplexy.
Two studies identify genes that may contribute to autism, including a region of chromosome 5 associated with neuronal cell-adhesion molecules. These findings suggest a significant role for genetics in the development of autism, potentially leading to new treatments.
Researchers identified genetic factors affecting autism risk, including genes involved in forming and maintaining brain cell connections. These findings may lead to better diagnostic strategies for children with autism.
Researchers identified two genetic variants associated with an increased risk of stroke, providing strong evidence for specific genes involved. The study, funded by the NHLBI and other NIH institutes, analyzed over 19,000 participants and replicated results in independent samples.
A study published in The New England Journal of Medicine found a common genetic variant linked to increased ischemic stroke risk in the US, affecting approximately 20% of whites and 10% of blacks. This discovery may lead to new strategies for detecting at-risk individuals and developing targeted treatments.
Researchers have identified a gene variant on chromosome 11 that is linked to an increased risk of atopic dermatitis, a chronic inflammatory skin disease. The study found that this variant is also associated with Crohn's disease and affects approximately 36% of the European population.
Scientists have identified 10 genetic variants linked to an elevated risk of arrhythmias and sudden cardiac death (SCD). These variants influence heart repolarization and raise or lower the risk of cardiac arrhythmias, with a prolonged QT interval increasing the risk up to five-fold.
Scientists at Duke University Medical Center have discovered two genetic markers that significantly increase the risk of developing chronic obstructive pulmonary disease (COPD) in smokers. These variants, located near a nicotine receptor, may be reduced by quitting smoking before COPD symptoms appear.
Researchers have identified three genes - VKORC1, CYP2C9, and CYP4F2 - responsible for over 40% of warfarin dose variability. The study provides a comprehensive overview of the genetic landscape influencing dose variability, paving the way for more accurate warfarin dosing and reduced patient risk.
Researchers at Boston University School of Medicine identified a gene variant on chromosome 4 associated with an increased risk of COPD. The study, conducted in collaboration with the Framingham Heart Study, found that genetic factors play a role in susceptibility to cigarette smoke and impaired lung function.
Scientists from the University of Cambridge discovered four rare genetic mutations that reduce the risk of developing type 1 diabetes, a link between T1D and enterovirus infections established. The IFIH1 gene variants were found to protect against T1D by reducing immune activation caused by enterovirus infections.
Researchers developed AssociationViewer to analyze genetic differences and uncover new genetic markers for diseases. The software displays SNPs on a large scale, enabling scientists to visualize significant variations in the genomic context.
Researchers have discovered new genes involved in Crohn's disease using a novel approach that combines statistical tools and automated gene-hunting techniques. The study identified genes on the same biological pathways as those already known to be relevant to the biology of Crohn's disease.
A new NC State University study reveals that fruit flies have a genetically wired sleep pattern, with males sleeping more during the day and females having more frequent bouts of sleep. The research identified 1,700 genes associated with sleep variability, shedding light on how these genes may influence human sleep.
Researchers found that fruit fly females' genes are activated similarly to an immune reaction when they mate, leading to a heightened defense system. The cost of mating is also revealed to be high, as females produce fewer offspring due to male harassment and toxic sperm fluid.
Researchers have identified novel genetic markers associated with an increased risk of heart attack, which are more than twice as great in individuals carrying multiple genetic markers. The study found that genes on chromosomes 3 and 12 play a crucial role in cardiovascular biology.
Scientists have developed a new molecular tool that pinpoint 'on-off switches' in genomes using next-gen sequencing technology. The research promises to clarify the role of vast stretches of non-coding DNA sequence, revealing powerful regulatory influence.
A large-scale genome-wide association scan found sequence variants associated with asthma, shedding light on disease mechanisms and potential biochemical pathways. The study also confirms previous findings linking the interleukin-1 gene cluster to asthma.
Researchers at Mayo Clinic have identified a gene variant on the X chromosome associated with an increased risk of developing late-onset Alzheimer's disease. Women who inherited two copies of the PCDH11X variant were found to be at substantially greater risk, while men with one copy also showed a significant increase in risk.
A recent whole-genome study identified genetic variants associated with Kawasaki disease, an inflammatory condition in children that affects the cardiovascular system. The research team found that genes involved in cardiovascular function and inflammation are key players, suggesting potential new diagnostics and treatments.
A genome-wide study has identified new genes involved in Kawasaki disease, a serious illness that affects young children and can cause coronary artery damage. The study found that genes related to cardiovascular function and inflammation may be key factors, leading to potential new diagnostics and treatments.
A study published in Nature Genetics identified genetic markers associated with risk for ulcerative colitis, bringing researchers closer to understanding the biological pathways involved in the disease. The findings may lead to the development of new treatments that specifically target these genes.
A new genetic study has identified variations in 31 genes that increase a child's risk of developing Kawasaki Disease, a rare and severe childhood disorder. The findings will enable scientists to develop more effective treatments by revealing new targets for therapy.
A genome-wide study has identified a new subtype of childhood acute lymphoblastic leukemia associated with a poor treatment outcome. The study found that patients with this subtype have a high relapse rate and poor disease-free survival, highlighting the need for further research and treatment options.
Two studies examine over 600,000 genetic markers in ADHD patients, finding that multiple genes contribute to the disorder. The findings highlight the need for larger studies to fully understand the genetic mechanisms underlying ADHD and to develop more effective treatments.
A study by University of Maryland researchers has identified a common gene variant associated with an increased risk of developing high blood pressure. The STK39 gene produces a protein that helps regulate salt processing in the kidneys, which plays a key role in determining blood pressure.
Scientists have found a genetic variation at the hexokinase-1 gene associated with glycated hemoglobin, an index of long-term blood glucose concentration. The study analyzed 14,618 women and found that variations at this gene are an important determinant of glycated hemoglobin concentrations.
A new study uncovers 11 gene variants associated with three blood lipids measured to determine cardiovascular disease risk. Researchers believe that these variants could lead to precise dietary recommendations for individuals at risk, such as carriers of certain gene variants who may benefit from low-cholesterol or Mediterranean diets.
Researchers discovered a gene mutation that significantly reduces triglyceride levels and produces a favorable cholesterol profile in the Old Order Amish population. Carriers of this mutation have higher levels of HDL-cholesterol and lower levels of LDL-cholesterol, reducing the risk of cardiovascular disease.
A genome-wide study has identified 23 regions of the genome associated with nine metabolic traits, including cardiovascular disease, type 2 diabetes, blood pressure, and inflammation. The study found 14 known genetic variants and nine novel variants, five of which are good candidates for important variants.
Researchers at Indiana University have created a comprehensive map of genes likely involved in bipolar disorder, identifying hundreds of genes that contribute to the illness. The study also lays the groundwork for personalized treatments and preventive measures using genetic risk scores.
A recent study has identified four novel genes associated with Alzheimer's disease, including a gene on chromosome 14 that may influence age of onset. The research also found connections to other diseases, such as spinocerebellar ataxia and innate immune system disorders.
A genome-wide study has uncovered a significant increase in genetic distances towards Northern Europe compared to Central Europe. The analysis of dense single nucleotide polymorphisms across the whole genome found substantial genetic differences between Eastern and Western Finland.
A genetic risk score was developed from three identified genes associated with increased uric acid levels and a 40-fold increased risk for developing gout. The study analyzed over 20,000 participants and found that more than 3 million US adults have gout due to factors such as obesity, diet, and certain medications.
Researchers at Salk Institute and Burnham Institute for Medical Research have identified 295 human host cell factors involved in HIV infection. This study may lead to the development of novel therapies aimed at disrupting human-HIV interactions and preventing viral replication.
Researchers identified two new genes and confirmed a third's role in increased uric acid levels, associated with up to 40-fold gout risk. Genetic testing may one day identify individuals at risk before symptoms develop.
A study found three genes associated with an increased risk of gout, enabling the development of a genetic risk score that can predict those at highest risk. This score could facilitate early and targeted treatments, improving outcomes for individuals affected by gout.
The NIH's Genes, Environment and Health Initiative has awarded grants to six studies aiming to identify genetic factors associated with stroke, glaucoma, high blood pressure, prostate cancer, and other conditions. Genome-wide association studies will be conducted to rapidly scan DNA markers across large groups of people.
Researchers will examine genomes of 4,000 participants in the CARDIA Study to determine how genes influence rising blood pressure with age. The study aims to discover pathways for targeted therapeutic intervention and could lead to new treatments for cardiovascular disease.
Researchers at TGen have devised a faster and less expensive way to identify genetic variants in the human genome. By using bar-coded multiplexed sequencing, scientists can index portions of the nearly 3-billion-base genetic code, making it easier to zero in on regions most likely to show variations in genetic traits.
Researchers identified variations in the MYH9 gene strongly associated with FSGS and HIV-associated FSGS among African-Americans, with a risk 300-500% higher than whites. The findings shed light on common genetic pathways to prevent kidney disease progression.
A recent study found that European American couples tend to prefer MHC-dissimilar mates, suggesting a biological component to mate choice. In contrast, African couples showed no significant MHC similarity or dissimilarity.
Researchers at UT Health Science Center aim to identify genetic clues to scleroderma by studying the genes of 1,500 patients and 3,000 controls. The goal is to develop better treatments and improve symptoms for those affected by this chronic disease.
Researchers at Harvard School of Public Health have discovered a common genetic influence on vitamin B12 levels in the blood, suggesting a new way to approach the biological connections between an important biochemical variable and deficiency-related diseases. The study found that a gene variant associated with higher B12 levels may pr...
A study published in Nature describes the use of DNA analysis to pinpoint the geographic origins of individuals from a sample of Europeans. The research revealed striking genetic maps of Europe, allowing for precise classification of individuals by region.