Articles tagged with Genetic Variation
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 major population study found that genetic variants associated with educational attainment also lower the risk of cardiovascular disease. These variants have implications for a healthier lifestyle, regardless of education level.
A new study found that using ACE inhibitors to lower blood pressure is associated with a 24% reduced risk of developing type 2 diabetes. Natural genetic variations in ACE concentrations are also linked to lower T2D risk. The researchers used Mendelian randomization to infer the causal effects of ACE inhibition on T2D risk.
A new study published in Science Advances found that genetic factors influencing adult obesity start to take effect in early childhood, around the age of 4-7 years old. Researchers discovered that nearly 100 genetic variants associated with adult BMI begin to play a role during this critical stage of development.
Researchers at Thomas Jefferson University have discovered two gene variations that may modulate platelet cell behavior and affect the risk of developing cardiovascular disease. The study suggests that these genetic variants could be potential targets for modulating expression of CD36, a key regulator of platelet levels and activation.
Researchers discovered that genetic variations influencing body mass index (BMI) are sensitive to environmental conditions, while those affecting human height are stable across environments. This finding could help determine whether specific traits are influenced by genetics or environment.
A massive study involving 17,606 participants has identified rare genetic variations associated with a higher risk of epilepsy. The research found that both severe and less severe forms of the disease share similar genetic features, paving the way for more targeted treatments.
A study of Finns with their similar DNA identified 26 potentially harmful genetic variations relevant to cardiovascular and metabolic health. These variations are more common in Finland than elsewhere in Europe, making them a valuable resource for understanding disease risk.
Researchers found that cryptic genetic variation enables bacteria to evolve green fluorescent proteins with increased diversity. The discovery could improve directed evolution techniques for developing new biomolecules for medical and other applications.
A new study published in Nature reveals the full spectrum of cells involved in congenital heart defect formation, identifying key cell types and their functions. The research uses single-cell RNA sequencing to uncover the molecular drivers of different cell types, shedding light on genetic mutations and disease mechanisms.
Stephen Montgomery, a Stanford University geneticist, receives ASHG's Early-Career Award for his innovative work on gene regulation, rare genetic variants, and exercise-induced molecular impacts. He has made significant contributions to the field, mentoring numerous students and postdoctoral researchers.
A recent study published in Evolution Letters found that a single old-growth tree can have up to 100,000 genetic differences between its base and tip. This suggests that these massive trees are capable of accumulating significant genetic variation over time.
A Mount Sinai study reveals that over 30% of heart disease risk is attributed to genetic factors, surpassing previous estimates. Researchers identified 28 independent gene networks active in coronary artery disease and found an additional 11% contribution to the inherited risk.
A new study using Mendelian randomisation found that higher BMI and fat mass are associated with an increased risk of aortic valve stenosis and most other cardiovascular diseases. The study used genetic variants to estimate the effect of BMI and body fat on 14 cardiovascular conditions in 367,703 participants.
Researchers created an AI algorithm, VarCoPP, to identify genetic combinations causing rare diseases. The algorithm provides confidence intervals for predicting pathogenicity, aiding doctors in diagnoses.
Research by Medical University of South Carolina investigators reveals genetic variations in fetal heart valve cells can cause mitral valve prolapse later in life. The study found that defects in primary cilia contribute to the disease, which can be present early but remains benign until decades later.
A study by Clemson University Center for Human Genetics reveals that there is extensive genetic variation in the propensity to consume cocaine and methamphetamine, as well as change in this behavior over time. The research uses Drosophila melanogaster fruit flies to assess naturally occurring variation in drug self-administration and f...
A recent study using Swedish Twin Registry data found that genetic variation explains more than half of the variation in dog ownership, implying a significant role for genetics in determining who owns a dog. The study's findings have major implications for understanding dog-human interaction throughout history and modern times.
Researchers from University of Copenhagen identify genetic variant on chromosome 2 that increases the risk of fainting. The study analyzed data from over 400,000 individuals and found that women under 35 are more likely to faint due to this gene variant.
Using stem cells from six people, researchers recreated retinal cells in the lab and found a specific genetic variation that contributes to AMD. The study suggests that reducing VEGFA expression may be a key factor in the development of AMD.
Recent hybridization of Gulf killifish has enabled them to adapt quickly to extreme pollution in the heavily polluted Houston Ship Channel. The study found that fish from more polluted sites were most resistant to pollution and that resistance was inherited through multiple generations.
A new framework analyzes gene regulation, identifying regulatory elements and their interactions with genes. The study reveals the structure of these elements, which influence gene expression and disease risk, and provides a model to understand genetic variation's impact on chromatin variability.
Studies suggest that fruit flies co-evolving with viruses have increased genetic variation underlying their susceptibility to future infections. The findings have implications for reducing disease, particularly in mosquito populations.
A study using family-based genetic analysis has identified the DENND1A gene as playing a major role in PCOS, enabling personalized medicine approaches and better disease prediction. The findings suggest that rare genetic variants in this gene contribute to the disorder's distinctive hormonal profile.
A new UCL-led study investigates three genetic markers that influence cannabis addiction. Researchers found differences in cognitive mechanisms and identified a specific gene associated with increased craving and attraction to cannabis-related imagery.
Researchers have identified genetic variants in the MC4R gene that increase the activity of the brain receptor, providing protection against obesity and its complications. These variants may be used as models for developing new, safer weight loss therapies.
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.
Researchers discover SRC-1 gene variants disrupt body weight regulation in mice and humans, highlighting the protein's key role in the hypothalamus. Genetic variants identified in severely obese children contribute to poor body weight control.
A DNA barcoding study has identified a group of cryptic species among the Warszewitsch's frog, found in Costa Rica and Panama. This finding highlights the need for modern DNA tools to study rapidly declining animal groups like amphibians.
Researchers found that Hirschsprung disease shares common genetic mechanisms with complex disorders like schizophrenia and autism. The study identified key genes, cellular mechanisms, and molecular targets for personalized treatment.
Researchers analyzed genetic information from 7,026 UK children to find polygenic scores that predict up to 11% of the difference in intelligence and 16% of the difference in educational achievement. The study used multivariate genomic approaches to increase predictive power and found improved accuracy when analyzing multiple traits.
A genetic study of over 160,000 adults in China found that moderate drinking has no protective effects against stroke and may even increase the risk. Blood pressure also rises with increased alcohol consumption.
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.
A new study led by Professor Mary Schooling found that testosterone is associated with a higher risk of blood clots and heart failure in men, but not heart attack. The findings suggest targeting testosterone could be a timely new avenue for preventing ischemic cardiovascular disease.
Researchers have identified five common genetic variants that increase the risk of autism, providing a new insight into the biological processes involved. The study also found genetic differences between clinical subgroups of autism and a significant overlap with other mental disorders.
A recent study has investigated the regulation of genes by noncoding DNA, which controls gene expression and determines cellular function. The research found that cell-specific enhancers have relatively small effects on target genes, highlighting the importance of tight regulation under normal conditions.
Researchers discovered multiple genetic variants associated with body-fat tissue regulation and distribution. The findings broaden the understanding of how genes predispose individuals to obesity.
Genomic analysis reveals East Africa's hunter-gatherers diverged from a shared ancestry around 20,000 years ago, driven by infectious disease and dietary adaptations. This study provides insight into the genetic diversity of African populations, shedding light on the role of diet and disease in shaping human evolution.
Researchers identified a genetic variant associated with an increased preference for menthol cigarettes, specifically in African-American smokers. The MRGPRX4 gene variant is five to eight times more frequent among menthol cigarette users, suggesting a potential underlying factor for the higher use of these products among this population.
Researchers at St. Jude Children's Research Hospital have identified genetic variations in ERG associated with an increased risk of acute lymphoblastic leukemia in Hispanic children. These variations were more common and had a stronger effect in Hispanic children than in other ethnic groups.
Researchers found that genetic variation in immune systems of rabbits allowed them to rapidly evolve resistance to the myxoma virus. The study discovered a multi-gene basis for this resistance, which emerged similarly in populations across Australia, France, and the UK.
Researchers identified six target disease genes at previously known AMD loci and three additional candidate genes, providing insights into the genetic architecture of AMD. The study used RNA sequencing data to expand on the genetic contributions to AMD.
Researchers discovered a correlation between specific genetic variants and the development of psychiatric disorders such as schizophrenia, depression, and autism. The study analyzed DNA samples from nearly all newborn babies in Denmark, finding that these variants are often present in individuals with these conditions.
Researchers discovered that isolated populations of threespine sticklebacks develop comparable characteristics in alkaline and acidic habitats, suggesting a shared genetic basis. The study found that changes in the genome proceed in similar ways across different habitats, making evolution predictable.
A recent study by the University of Cambridge found that individuals who are slim and healthy tend to have fewer genetic variants associated with obesity. The researchers identified new genetic regions involved in severe obesity and those contributing to healthy thinness, suggesting a genetic advantage for those who maintain their weight.
A genetic study of over 6,000 Latin Americans has identified new variations associated with skin colour and eyesight. The research found that lighter skin among Eurasian people evolved independently from different genetic backgrounds.
Research implicates genetic variants affecting NMDAR functioning as a risk factor for schizophrenia. Variants in four genes, including GRIN1 and GRIN2B, were found to be more common in people with schizophrenia.
A large international study has identified 124 genetic variants linked to risk tolerance, revealing biological mechanisms underlying willingness to take risks. The findings shed light on the shared genetic influences across various specific risky behaviors.
A Penn study reveals that individual genetic variation can predict how well patients respond to certain anti-diabetes drugs, including thiazolidinediones. The researchers identified a specific genetic variation associated with increased cholesterol levels in response to rosiglitazone treatment.
Researchers have developed a novel way to streamline genetic analysis by utilizing the blacklist computing concept. This method has shown promise as a key to faster therapeutic innovation, enabling clinicians and researchers to focus on true disease-causing mutations., By removing non-pathogenic genetic variants from consideration, thi...
New research suggests sex-specific dominance reversal for fitness is a strong and common phenomenon throughout the genome. This mechanism helps maintain genetic variation that has led to life's spectacular diversity.
Researchers discovered 40 new genetic variants associated with an increased risk of colon cancer, validating 55 previously identified variants. The study also identified a rare protective variant for sporadic colorectal cancer, offering hope for targeted treatments.
A major international collaboration has identified genetic variants that increase the risk of ADHD, providing new insights into the biology behind the disorder. The study found twelve locations in the genome where people with a particular genetic variant have an increased risk of ADHD compared to those who do not.
Research reveals that variation in opsin gene expression affects guppy females' preferences for male orange colors, highlighting the interplay between visual properties and mate choice. Genetic polymorphisms and environmental factors contribute to differing light sensitivity, driving the evolution of diverse male sexual colors.
Scientists at La Jolla Institute for Immunology have created an immune cell atlas, DICE, to decipher how natural genetic variation shapes the immune system's ability to protect health. The database provides detailed profiles of 15 immune cell types and 91 healthy donors, revealing a wide impact of genetic variation on gene activity.
A study on female guppies reveals that genetic variation and light exposure during rearing impact their color preferences. The findings suggest a link between female guppies' responsiveness to visual signals and the evolution of diverse male color patterns.
Researchers found three genetic variations linked to increased liver fat, which could lead to new treatment options for non-alcoholic fatty liver disease (NAFLD). The study, led by Westmead Institute for Medical Research, identified the mechanisms behind hepatic steatosis, a major risk factor for NAFLD.
A genetic variation in TMEM106B has been identified as a potential risk factor for chronic traumatic encephalopathy (CTE) disease severity and pathology. The study found that this variation may predict increased CTE pathology and brain inflammation, and is associated with a higher risk of developing dementia.
Researchers found that common genetic variations can significantly increase breast cancer risk for female pediatric cancer survivors, with a two-fold higher risk compared to average survivors. The collective effect of these variations is comparable to having a high-risk mutation in breast cancer predisposition genes.
A study by University of Colorado researchers found genetic variants in the FUT2 gene increase the risk of recurrent or chronic middle ear infections in children. The variants affect the microbiome of the middle ear, making it more susceptible to specific bacteria.
Researchers have assembled the largest sets of African genomic data, creating a resource to study genetic structure, disease, and protein function. They identified 10 new associations specific to African populations, including links between genetic variants and diseases such as alpha thalassemia and diabetes.