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 have identified a specific genomic variant linked to obesity in West Africans and African-Americans, highlighting the importance of genomics research in diverse populations. The variant, found in approximately 1% of individuals, increases their risk of obesity by about six pounds.
Researchers have identified two genes linked to IgA nephropathy, a common cause of kidney failure. The study found that variations in these genes, C1GALT1 and C1GALT1C1, are significantly more common in patients with high levels of the Gd-IgA1 marker.
Australian scientists have discovered five key genetic regions that increase the risk of developing Macular Telangiectasia type 2 (MacTel), a degenerative eye disease leading to blindness. The findings will help researchers understand the disease and explore ways to prevent or treat its progression.
A large-scale study found that genetics accounts for about eight percent of people's differences in self-reported tiredness/low energy. Most of these genetic contributions overlapped with mental and physical health conditions, as well as lifestyle factors like smoking and weight.
A genomic study identified over 200 genetic regions linked to male pattern baldness, including genes related to hair structure and development. The research provides a formula to predict the chance of severe hair loss based on genetic markers.
A recent study found that depressed patients with an early age at onset and higher symptom severity have a significantly increased genetic risk for major depressive disorder, bipolar disorder, and schizophrenia. The research used genome-wide data to identify specific subgroups of depressed patients based on their clinical characteristics.
Researchers have identified 13 new genetic regions linked to chronic obstructive pulmonary disease (COPD), as well as overlap with asthma and pulmonary fibrosis. The study provides insight into the genetic basis of COPD and may lead to improved therapies for patients.
Researchers at UC San Francisco and Kaiser Permanente have identified genetic predictors of normal prostate-specific antigen (PSA) levels in healthy men. This information can be used to improve the accuracy of PSA-based prostate cancer screening tests.
A recent study has identified 83 DNA variants that modulate human height, with some affecting it by more than 2 cm. The discovery is significant for understanding the genetic basis of complex diseases such as diabetes and schizophrenia, and may lead to the development of new therapeutic strategies.
A new subset of helper T-cells, called peripheral helper T-cells (Tph cells), has been identified as a key player in the development of rheumatoid arthritis. These genetically distinct T-cells are found in tissues affected by RA and can induce plasma cell differentiation and inflammation.
Researchers from the University of Turku identified new links between DNA variations and inflammation tracers, suggesting potential new treatments for diseases such as multiple sclerosis and Crohn's disease. The study used a large dataset to investigate the molecular processes underlying inflammatory diseases.
A massive international study of over 750,000 people has uncovered 83 rare genetic variants that significantly affect human height. The findings shed light on previously unknown biological pathways involved in skeletal growth, with some variants influencing height by more than 2 cm.
Scientists have identified a genetic variant that doubles an individual's risk of developing ulcerative colitis and uncovered novel genetic associations to IBD risk. The study provides clues on new drug targets for IBD treatment.
A new study led by TSRI researchers discovered early brain changes in patients with Fragile X syndrome, a disorder affecting brain development. The study found that the mutation on the X chromosome triggers genome-wide DNA methylation changes, which may help explain similarities with autism spectrum disorder.
Researchers have discovered two novel genetic risk factors for bipolar disorder, FADS1 and FADS2, which play a crucial role in lipid metabolism. These findings support the notion that lipid abnormalities may contribute to the development of BD.
A University of Florida researcher led a global team to identify chemical combinations that improve tomato flavor. The team used classical genetics to replace bad alleles with good ones in modern tomato varieties.
Research at University of Colorado Boulder reveals nicotine reverses hypofrontality in mice with schizophrenic characteristics, suggesting novel non-addictive treatment option for 51 million people worldwide affected by the disease.
New studies by researchers at UCSF suggest that genetic variants affecting physical traits in men and women are linked to different disease risks. Autism risk is associated with genetic variants known to contribute differently to physical traits in boys and girls.
Researchers at ORNL released the largest-ever Populus SNP dataset, comprising over 28 million SNPs, to study genetic variations in poplar trees. The dataset aims to develop plant materials tailored to work with microbes to yield targeted products for biofuels, materials, and chemicals.
Researchers identified genetic variants that affect Crohn's disease severity, but found these variants do not determine individual risk of developing the condition. The study suggests new pathways for treating established disease.
Researchers identified four new regions of the genome associated with PSC risk, one of which is linked to increased levels of a protein called UBASH3A. The study found unique aspects to PSC biology and suggests the disease is not simply caused by IBD.
Researchers identified four new markers of primary sclerosing cholangitis risk on the human genome, bringing the total number of known predisposing locations to 20. The study also shed light on the genetic relationship between primary sclerosing cholangitis and inflammatory bowel disease.
A recent study from the University of Bristol found stronger evidence that schizophrenia risk predicts cannabis use, rather than the other way round. This suggests that people with schizophrenia may use cannabis as a form of self-medication to manage symptoms.
Scientists have identified over a dozen genes linked to bone density and strength, using a novel approach that could speed up the development of new osteoporosis treatments. By mapping these genes onto existing genome-wide association study locations, researchers predicted 33 genes controlling bone mineral density.
Researchers from Harvard T.H. Chan School found that 58% of men and 62% of women of European descent cannot smell the unpleasant odor present in urine after eating asparagus. In contrast, players of Pokémon GO showed a moderate increase in physical activity for six weeks after game installation, but this effect diminished over time.
A study found that 40% of participants could smell the distinct odor in their urine after eating asparagus, while 60% were unable to detect it. The researchers identified 871 genetic variants linked to asparagus anosmia and suggest future research on sense of smell receptors.
A new approach to analyzing big data has been developed at Columbia University, Princeton and Harvard University. The Influence score, or I-score, is a statistic that can identify highly predictive variables in large datasets. This method has potential applications in predicting diseases, social science phenomena, and financial markets.
Researchers have identified six loci linked to personality traits and found correlations between these traits and distinct psychiatric disorders. Personality factors such as extraversion and neuroticism were associated with specific genetic variants.
A genetic variant in the CXCL16 gene determines whether stallions become long-term carriers of equine arteritis virus. The study found that a specific allele codes for a protein that acts as an entry receptor for the virus, leading to persistence in carrier state.
Cancer Treatment Centers of America (CTCA) researchers present four studies on lung cancer treatment and survival, including a protein linked to malaria as a potential biomarker and genomic sequencing to accelerate therapeutics development.
A study of over 105,000 light and heavy social drinkers found a variation in the β-Klotho gene associated with decreased desire for alcohol. The less frequent variant is seen in approximately 40% of participants and is linked to a reduced risk of excessive drinking.
Researchers discovered eight locations in the genome with copy number variants associated with schizophrenia risk, affecting dozens of genes or disrupting single genes. These ultra-rare variants occurred more frequently in genes involved in synapse function and carried a four- to 60-fold increased risk for psychiatric illness.
A study analyzing the genomes of 25 individuals from 1,000 to 6,000 years ago and their descendants found that variants beneficial before European contact became disadvantageous upon arrival. The researchers discovered a significant decline in these alleles, suggesting negative selection may have contributed to population decline.
A genome-wide association study has identified two regions of the genome associated with ulcerative colitis only in people of African descent. The study found unique, African-specific loci and overlapping genome-wide associations for ulcerative colitis and IBD in African-Americans and other populations.
A study published in PLOS Genetics identified two genetic variations linked to age-related hearing impairment, shedding light on the disorder's biological basis. The research used a large cohort of patients' electronic medical records and genome sequences to discover these genetic links.
Researchers used electronic health records and genome sequences to identify two genetic variations linked to age-related hearing impairment. The study found novel variations near the ISG20 gene and within TRIOBP, a gene previously associated with another type of hearing loss.
UCLA scientists used a new technology to analyze DNA and found dozens of genes involved in the development of schizophrenia. The study provides important information on how the disorder originates and may lead to better treatments.
Researchers have developed statistical tools to pinpoint genomic regions that confer benefits to modern humans, such as the EPAS1 gene, which helps Tibetans adapt to high altitudes. The study suggests these interbred regions may have enabled archaic humans to survive in Eurasia and were passed on to present-day populations.
Columbia researchers have identified 41 key genes that may contribute to gum disease, offering a promising approach to developing individualized treatments. The study's findings could lead to new compounds that target specific genetic pathways involved in the disease process.
A genetic study has pinpointed a gene variant associated with childhood ear infections, providing an early clue for developing more effective treatments. Researchers found that children with the variant are more susceptible to acute otitis media (AOM), a painful condition requiring antibiotics.
Duke University scientists have identified 140 previously unknown proteins at inhibitory synapses, crucial for preventing overexcitement in the brain. The discovery opens new avenues to understanding and treating autism, intellectual disability, and epilepsy.
Researchers found misregulated imprinting at play in hybrid seeds from South American wild tomato species, affecting core gene regulation and contributing to seed failure. Genome-wide shifts occurred that favored maternal expression, suggesting a key role for epigenetic genomic imprinting in explaining differences in seed viability.
A research team has devised a new method to enhance genome-wide association studies for liver disease using purified liver cells made from induced pluripotent stem cells. The approach, developed by the Medical University of South Carolina, allows for more accurate identification of genetic mutations causing liver diseases.
A genome-wide association study identified genetic variants that contribute to the formation of healthy facial traits, including nose size and face width. The study confirmed previous findings and provided insights into the role genes play in facial development.
A recent study published in PLOS Genetics identified two genes associated with human facial size and found additional candidates for genes affecting facial shape. The research used a genome-wide association study on an African population, providing new insights into the genetic basis of normal human facial variation.
Researchers from Mount Sinai and international partners have identified specific genes that contribute to cardiometabolic diseases, such as heart attack and stroke. The study analyzed gene-expression data from patients with coronary artery disease and found genes that regulate blood lipid levels in abdominal fat.
A new study found that genetic factors account for 38.4% of the variation in chronic pain risk, while shared environment with spouses contributes to 18.7%. The research also discovered a correlation between chronic pain and depression, highlighting the importance of identifying shared causal mechanisms.
A new study reveals how immune cells access specific genes to fight inflammation and infections, using the cellular snowplow mechanism. The researchers found that nucleosome remodelers clear away blizzards of nucleosomes, allowing genes to be expressed.
A growing number of scientists argue that sex hormones and other variables affect how therapeutics behave, necessitating male and female inclusion in trials. Hormonal fluctuations during the menstrual cycle can significantly impact research, making it essential to consider these differences when testing drugs or transplant tolerance.
Researchers from MIT and Indiana University developed a new system to protect genomic database privacy through differential privacy. The system adds noise to query results, making it difficult for attackers to extract private information.
Researchers identified GALNT2 gene as a regulator of HDL-C levels through its effects on phospholipid transfer protein (PLTP) function. The study found that humans, mice, and rats lacking GALNT2 had low HDL levels compared to models with normal GALNT2 function.
Researchers identified new mechanisms controlling stem cell properties in flatworms, including alternative splicing processes that operate only in stem cells. The study also reveals a previously unknown interaction between proteins MBNL and CELF, which may have implications for human regenerative medicine.
Increased LDL-C levels increase CAD risk, while increased HDL-C and TG levels lower diabetes risk. This study uses genetics to investigate lipid associations, providing insights for drug development and potential effects on dysglycemia.
A genomic study using a novel method has identified 15 regions of the genome linked to depression in European ancestry individuals. The study analyzed data from over 300,000 individuals and found sites associated with risk genes, including those involved in brain development.
A team of Princeton researchers has developed a machine-learning approach that analyzes the entire human genome to predict which genes may cause autism spectrum disorder. By identifying 2,500 potential autism genes, this new method provides a significant breakthrough in understanding the genetic basis of autism.
A study published in Scientific Reports found tiny DNA changes linked to Parkinson's disease in unexpected places, including liver, fat, immune, and developmental cells. These findings suggest a diverse set of underlying causes for the disease, challenging current understanding of neurodegenerative disorders.
A new study identifies a genetic cause of ALS in 3% of cases, with the NEK1 gene playing a crucial role in neuronal function. The discovery highlights the importance of big data in ALS research and offers new targets for therapy development.
Researchers used a genetic scoring technique to predict academic achievement from DNA, achieving 10% accuracy. This surpasses previous methods like gender and 'grit', which explained only 1-5% of the variance in educational achievement.
A large international research team identified common genetic variants as the biggest culprits behind type 2 diabetes, with novel East Asian-specific variant PAX4 also found. The study's findings provide a more complete picture of the disease's genetics and hold promise for precision medicine.
Researchers have developed a cost-effective method to identify genes associated with complex traits in mice, including 66 different physical and behavioral characteristics. The technique, which uses genotype-by-sequencing and RNA sequencing, has identified two novel genes linked to methamphetamine sensitivity and anxiety-like behavior.