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.
Researchers at MLU and Georg August University Göttingen discovered a gene responsible for tyloma, an interdigital hyperplasia affecting up to 60% of German cattle. The disease can lead to tears in skin, bacterial infections, and shortened lifespans.
A team of CHOP researchers has discovered a genetic signature that can help diagnose adult-onset 'type 1.5' diabetes, which shares characteristics with pediatric-onset type 1 diabetes. The finding could lead to more effective diagnostic methods and improve treatment outcomes for adults.
A recent study from the University of Alberta suggests that many cancers, diabetes, and Alzheimer's diseases have a genetic contribution of no more than 5-10%. The research highlights the importance of metabolites, chemicals, proteins, or the microbiome in determining disease risk rather than genes.
A new study from the University of York found that parents' socioeconomic status and children's inherited DNA differences are powerful predictors of educational achievement. Children with high genetic propensity for education but poor backgrounds had limited access to higher education, while those with low genetic propensity but afflue...
A study published in the Journal of Allergy and Clinical Immunology identified over 300 genes and 200 CpG sites associated with reaction severity. The research suggests that neutrophil-mediated immunity plays a prominent role in peanut allergy reactions, offering potential new targets for treatment.
Researchers linked genetic variation in fruit fly mitochondrial genomes to changes in food intake, providing a new tool for studying human metabolic traits. The study used the Drosophila Genetic Reference Panel and identified specific haplotypes associated with increased food consumption.
A study by Duke-NUS Medical School researchers has uncovered new insights into how individual cell types in the brain contribute to Alzheimer's disease progression. The study found distinct gene expression profiles and networks across different cell types, providing potential druggable targets for future drug development.
Patients with inflammatory bowel disease are more likely to develop Parkinson's disease due to shared underlying inflammation. While the risk is small, early detection and intervention may be crucial in slowing or stopping PD progression.
A new study by UNC researchers found that using a polygenic risk score (PRS) improves psychosis risk prediction in persons meeting clinical high-risk criteria. The PRS, developed from genome-wide association studies (GWAS), discriminates persons with schizophrenia from unaffected individuals and predicts future psychosis.
Researchers found that 44% of colonies of the invasive species Didemnum vexillum are formed by gene chimera, which could promote genetic diversity and colonization success. The creation of chimera may also be a mechanism to increase adaptive success in new environments.
A recent study published in Nature Genetics has identified short tandem repeats, also known as eSTRs, which impact nearby gene expression in the human genome. The researchers found over 28,000 eSTRs associated with various complex traits, including schizophrenia, inflammatory bowel disease, and intelligence.
Researchers have identified a link between certain gut bacteria and an increased risk of bowel cancer. The study found that individuals with a specific type of bacteria from the Bacteroidales group had a slightly higher risk of developing the disease, with risks ranging from 2-15%.
Researchers found thousands of genes affected within ten minutes after water hitting a leaf, leading to strengthened defense hormones. The study also discovered a regulatory network that affects how plant defence hormones are strengthened by mechanical stimulation.
Researchers at NYU Abu Dhabi's Center for Genomics and Systems Biology have developed an improved assembly of the date palm genome using long-read sequencing technology. This will help advance research and inform propagation practices for this essential MENA region food source.
A new study developed genetic-based epilepsy risk scores that can accurately distinguish between healthy patients and those with epilepsy, as well as between patients with generalized and focal epilepsies. These scores have the potential to identify high-risk patients earlier and guide precision treatment.
Broadening diversity among participants enhances genomic studies' potential to uncover disease causes and treatments. The Psychiatric Genomics Consortium provides guidance on analyzing diverse data, highlighting opportunities, challenges, and solutions.
Researchers developed a new approach to identify plant genes that control traits, enabling more efficient breeding of affordable and sustainable crop varieties. The method is valuable for global food security and human nutrition, particularly for crops such as maize, vegetables, fruits, and grains.
A new study identifies a clear biological basis for PTSD, finding that genetics accounts for between five and 20 percent of the variability in PTSD risk following a traumatic event. The study also found significant overlap with other mental disorders, including depression, schizophrenia, and neuroticism.
A large genome-wide association study has identified 183 genetic loci associated with high serum urate levels, a major risk factor for gout. The study also found that these loci can be used to predict gout risk in independent populations.
Researchers at the University of Helsinki have identified 35 genetic loci associated with plasma lipid species levels, revealing a significant heritable component in cardiovascular disease risk. The study also highlights the potential of lipidomics to improve cardiovascular risk prediction and treatment.
Children with Down syndrome are 10-20 times more likely to develop Acute Lymphoblastic Leukemia (ALL) than children without the condition. Researchers at Baylor College of Medicine have made breakthroughs in understanding this risk, identifying genetic variants associated with increased ALL susceptibility.
A new UCL-led study found that some genes predicting high cholesterol don't apply to people from Uganda as they do in European populations. The researchers investigated genetic variants affecting blood fat levels and found that only 10% of markers were implicated in cardiovascular risk factors among Ugandan participants.
Researchers have uncovered 16 genetic regions linked to diabetic kidney disease, which may help identify potential targets for prevention and treatment. The study provides insights into the pathogenesis of DKD and could lead to new therapeutic strategies.
A study has identified TCF4 as a master regulator of schizophrenia during early human brain development. The gene is believed to play a crucial role in the disease's underlying genomic biology. Researchers hope that this discovery will pave the way for new treatments and precision medicine approaches.
A recent genome-wide association study involving over 470,000 participants found no meaningful link between genetic variants and same-sex sexual behavior. Instead, thousands of genetic variants with small effects contribute to individual differences in predisposition to the trait.
A large-scale study has identified a robust new signal and fine-mapped previously reported genetic variants associated with childhood obesity. The findings suggest that genetic influences on obesity operate across the lifespan and provide valuable insights into potential treatments.
A study of over 165,000 US military veterans has identified multiple genetic locations associated with the risk of re-experiencing traumatic memories, a hallmark symptom of post-traumatic stress disorder. The research also found genetic overlap with conditions such as hypertension and psychiatric disorders.
A genome-wide association study found specific genetic links to re-experiencing trauma symptoms in US veterans with PTSD, highlighting the role of brain cells in stress response. The study identified eight distinct genetic regions associated with PTSD vulnerability, providing potential targets for drug treatments.
A new study has found that the Nunavik Inuit population in Canada's Arctic have a distinct genetic profile, which may predispose them to brain aneurysms. Researchers analyzed the genetic characteristics of 170 Inuit volunteers and identified unique variants correlated with a higher risk of this condition.
A global genome-wide association study identified eight genetic variants linked to anorexia nervosa, revealing a complex interplay between metabolic and psychiatric factors. The research suggests that integrating metabolic information may help clinicians develop better treatment approaches for this potentially lethal illness.
A new study aims to identify genes that are unique to African Americans and contribute to hereditary breast cancer. The research will analyze large datasets of over 18,500 African American women, including those with diagnosed and cancer-free individuals.
A large-scale genetic study of diverse populations found that genetic mutations contributing to chronic diseases like diabetes vary across ethnicities. The research highlights the importance of including diverse populations in genetic studies to develop effective treatments for debilitating diseases.
A recent multicenter analysis found that including diverse populations in large-scale genomic studies is critical for reducing health disparities and accurately representing genetics-related disease risks. The study identified 27 new trait-variant associations, furthersing our understanding of the genetic architecture of traits.
A study published in the Journal of Neuromuscular Diseases reveals four clinical characteristics associated with secondary modifying genes in CMT1A. The researchers identified significant genomic loci containing candidate genes that could explain disease variability and potentially predict natural course of disease.
A genetic study found that genes regulating iron metabolism are responsible for excess liver iron in populations of European ancestry. The research suggests a systemic and not organ-related problem, with implications for treatment and therapy.
Researchers from Joslin Diabetes Center have identified a genetic factor linked to the development of diabetic peripheral neuropathy. The study suggests that people carrying a specific variant in a sodium channel may be protected from the complication, providing a potential target for pharmacological therapy.
A study of ancient DNA from Siberia, Alaska, and Canada found that a significant genetic contribution from Paleo-Eskimos shaped the modern populations in the region. The researchers discovered that Paleo-Eskimos interbred with southern Native peoples and influenced the spread of Na-Dene languages.
Researchers analyzed 41 ancient sub-Saharan Africans, revealing a multi-stage model for the spread of food production into Kenya and Tanzania. The study found that Stone Age herders across East Africa had closely related genomes, despite cultural differences, and that genes for lactose digestion were rare in first East African herders.
A genome-wide association study has identified five new genetic risk loci for harmful alcohol use, confirming one previously identified locus. The study provides insight into the role of genetics in this behavior and highlights the importance of habitual alcohol use on various health and behavioral traits.
Scientists from Sanford Burnham Prebys have revealed a new mechanism for ALS' pathogenesis and suggest that modulating membralin has potential in ALS therapy. A membralin-boosting gene therapy extended the survival of mice with ALS-like symptoms, providing an important new perspective into the disease.
A large international consortium analyzed protein-coding genes from nearly 46,000 people, linking rare DNA alterations to type 2 diabetes. The study identified four genes with rare variants that affect diabetes risk, providing potential targets for new medicines and guiding researchers to better understand the disease.
Researchers describe an effective, unbiased method for choosing the best algorithm for prioritizing GWAS results, called Benchmarker. Combining multiple strategies often gives the best results and certain algorithms perform best when looking for genes for specific traits.
A new mutation in the ADAMTS3 gene is associated with breathing difficulties in bulldogs and Norwich terriers. Swelling from edema in the airways can cause respiratory disease, independent of face shape. Screening for this mutation could help identify at-risk dogs and inform breeding practices.
A genome-wide test suggests that bitter and sweet beverage preferences are related to the psychoactive properties of these beverages, not genetic variations in taste genes. People prefer certain drinks due to their emotional and psychological impact.
Researchers identified 20 new genetic associations with bipolar disorder in a massive study of over 50,000 subjects across 14 countries. The findings highlight the complexity of the disease and its overlap with other psychiatric disorders.
A recent genome-wide association study found that childhood-onset asthma is associated with nearly three times as many genes as adult-onset asthma. The study identified 61 independent asthma-related genes, with most being specific to childhood onset. The findings suggest different mechanisms cause the inception of asthma in childhood c...
A new study published in Genome Biology identified key genomic features that may have enabled the domestication of corn and soybeans. The research found that these crops occupy a middle ground in their willingness to mutate, with higher mutation rates in modern varieties compared to their wild relatives.
A new genetic test, known as the Obesity Genome-wide Polygenic Score (GPS), has been developed to predict an individual's risk of developing severe obesity. The test uses a genetic score based on over 2 million variations in a person's genetic code and shows high predictive power.
Researchers have developed a scoring system based on genetic markers to predict an individual's inborn risk for obesity. The score accurately predicted BMI and obesity in over 300,000 individuals, with those in the top 10% being 29 pounds heavier on average and 25 times more likely to develop severe obesity.
A large GWAS study identified novel loci associated with asthma susceptibility, including the gene IL1RL1 and HLA-DQA1, in four major ethnic groups. The study suggests unique biological pathways contribute to asthma susceptibility across different ethnicities.
A large-scale genome-wide association study has identified 14 new variants associated with the development of kidney stones, including four linked to obesity and high blood uric acid levels. The findings may be useful for predicting individuals' risk of developing kidney stones and identifying new targets for prevention and treatment.
A genome-wide association study found that genetic variations linked to beauty also impact body mass in women and blood cholesterol levels in men. The study highlights the complex relationships between beauty and other human traits.
A recent study has identified the Greek wild crocus species C. cartwrightianus as the sole progenitor of modern saffron, revealing its origins in Attica. This breakthrough could enable plant breeders to create new saffron genotypes with increased genetic diversity.
A large genomic study of nearly 275,000 people identified 18 genetic variants associated with either heavy alcohol consumption or alcohol use disorder. The study suggests that certain genes, such as DRD2 and SIX3, may need to be present for people to develop AUD. This research may inform future treatments for each alcohol disorder.
A meta-analysis of 12 international stroke studies identified common genetic variants associated with poststroke recovery outcomes. The study found a significant genetic variant linked to worse outcomes, and suggests that genes may contribute to individual differences in recovery.
Researchers at Mount Sinai identified 413 genetic associations with schizophrenia across 13 brain regions, shedding light on the disease's mechanisms. Abnormal gene expression in specific brain areas contributes to increased risk of schizophrenia.
A recent publication touted genetic risk scores as a tool for identifying patients at high risk of heart disease, cancer, and diabetes. However, a new study questions the value of these scores, finding they have lower accuracy when considering individual patient factors.
Researchers have identified two new genes, ING3 and EPDR1, that affect bone-forming cells and may lead to stronger bone mineral density and fracture prevention. The study's innovative use of three-dimensional genomic geography analysis could also aid in the discovery of new treatments for other genetic diseases.
The bias in human genomics research limits understanding of health and disease, and the ability to make accurate predictions and develop new treatments. The authors call for increased diversity in studies to address health inequalities and mistrust
A new study attributes the link between earlier puberty and multiple sclerosis (MS) to body mass index (BMI), finding that increased BMI is also linked to a greater risk of MS. Researchers analyzed genetic data from over 329,000 women and found that people with an earlier age of puberty were more likely to develop MS.