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.
Researchers analyzed 1,200 genome-wide polymorphisms in 432 Indian individuals, revealing low levels of genetic divergence across geographically and linguistically diverse populations. The study provides a foundation for future research on the genetic basis of common diseases in Asian Indians.
A study in PLOS ONE finds that genetically variable wolves are more likely to be recruited into the breeding population, reducing the negative effects of inbreeding. This means the accumulation of inbreeding's negative effects will occur much slower than previously believed.
An international team of researchers has identified a novel gene mutation linked to Crohn's disease and ulcerative colitis, which may offer a new pathway for tracking the disease process and potential drug treatments.
A recent study by Dartmouth researchers found that individuals with a specific genetic variation in their ODC gene are more likely to benefit from aspirin use in preventing colon cancer. These individuals were 23% less likely to develop new adenomas and 49% less likely to develop more advanced lesions.
A study pooled data from over 20 groups conducting breast cancer research, identifying 16 single nucleotide polymorphisms (SNPs) that may be linked to breast cancer risk. The authors found that five SNPs showed borderline statistical significance and could contribute to breast cancer incidence.
A Tulane University study suggests that bats may have been responsible for the origin of the deadly Marburg hemorrhagic fever outbreak in the Democratic Republic of Congo. The research identified multiple genetic variants of the virus, indicating repeated introductions from a primary reservoir rather than person-to-person spread.
A comprehensive scan of the human genome has identified 51 chromosomal regions linked to alcohol addiction. The study provides new tools for understanding the physiological foundation of addiction and identifying individuals at risk.
A genetic variant in the SERPINH1 gene has been identified as a potential cause of premature delivery in African-American women. The variant reduces collagen production, making membranes more prone to rupture. This discovery may help physicians identify high-risk patients and prevent serious pregnancy complications.
Researchers found an association between specific genetic variations and a 50-100% increased stroke risk in younger women, with particular emphasis on the PDE4D gene. The study suggests a potential genetic test to identify high-risk women who may benefit from more intensive screening and counseling.
A genetic variation in the CFH gene is associated with an increased risk of age-related macular degeneration (AMD). The study found that individuals with the mutation had a 48% cumulative risk of developing late AMD by age 95, while those without it had a lower risk.
The study found that environmental quality increases the heritability of birth weight, but selection strength weakens in better environments. This suggests that biologically realistic models are crucial for predicting evolution in wild populations.
The Broad Institute scientists will survey DNA of 50,000 individuals using large-scale genotyping technologies and advanced informatics to highlight genetic differences in specific genes. The project aims to accelerate the pace of identifying risk factors and genetic variants associated with human diseases.
Researchers found widespread evidence of evolution in all populations studied, with signals of positive selection detected in genes related to metabolism, skin pigmentation, and brain development. The study identified over 700 recently evolving genes, including the lactase gene, which enabled Europeans to digest milk into adulthood.
A study found that genetic variation in the leptin and leptin receptor genes is associated with an increased risk of developing breast cancer. Individuals with two copies of the polymorphism had a threefold higher risk of developing breast cancer than those without it.
The collaboration aims to uncover the genetic basis underlying important agricultural traits in rice. By identifying sequence variation between major rice varieties, researchers can associate DNA variations with traits like drought resistance or vitamin content, ultimately helping to breed more resilient and nutritious rice strains.
The Human HapMap project provides a powerful tool for exploring the root causes of common diseases. By mapping genetic variation across the entire genome, researchers can identify genetic contributions to diseases such as diabetes, cancer, and Alzheimer's disease more efficiently.
Researchers discovered genetic variations in the VKORC1 gene that affect warfarin dosing, allowing for more precise patient treatment. The study, supported by the NIH Pharmacogenetics Research Network, may enable doctors to set ideal doses quickly and precisely.
A genetic study found significant associations between two single nucleotide polymorphisms (SNPs) and alcohol dependence in a Russian population. The variations were in the GABRA2 receptor subtype, which is involved in regulating brain activity and can decrease activity of the entire brain and body.
Researchers found significant associations between two SNPs and alcohol dependence in a Russian population, similar to U.S. findings. The study suggests that the GABRA2 gene influences risk for alcoholism regardless of environmental factors.
African-American study participants with a genetic variant for the mood-elevating hormone norepinephrine are at higher risk of depression, anxiety, and hypertension. Elevated norepinephrine levels, heart rate, and blood pressure were observed in those with the genetic variant.
A new mapping effort captures most common human genetic variation across European American, African American, and Han Chinese American ancestry. The research provides a tool for exploring the causal role of common DNA variation in complex human traits.
Researchers found a genetic variant of the CYP1A1 gene associated with lower estrogen levels, higher bone resorption markers, and lower bone density in hip bones. This variant may serve as an important genetic marker for identifying women at high risk of osteoporosis.
The Texas Bison Herd is struggling due to inbreeding depression, a condition caused by lack of genetic variation. The herd's average age has increased, and birth rates are low, posing a threat to its survival.
A study found that genetic variations in taste receptors affect the way people perceive the bitterness of alcohol, influencing their drinking habits. Individuals who are supertasters and can't taste the bitterness of PROP may consume more alcohol than those who are nontasters.
The new center will provide tools for SNP selection, discovery, and analysis, enabling researchers to identify genetic markers associated with diseases. The center aims to make this capability accessible to many biomedical researchers, leading to a better understanding of human genetic variation and its association with disease.
Researchers at Washington University in St. Louis found that genetically distinct populations of brown lizards (Anolis sagrei) introduced to five countries can be traced back to Florida. The study, which analyzed DNA from over 600 individuals, suggests that the Sunshine State is a key site for species migration.
A recent study found that genetic variations in the HLA and TNF gene regions are associated with response to treatment in early rheumatoid arthritis patients. Patients with two copies of the shared epitope were four times more likely to achieve significant improvement in disease activity compared to those with one or no copies.
Researchers discovered strong evidence for natural selection at eight genes in European-American populations, likely related to environmental conditions. The study found connections between genetic variation and diseases such as diabetes, obesity, high blood pressure, kidney disease, and Alzheimer's.
A study found that genetic differences are the primary cause of variation in long-term average alcohol intake. Some genes affect both intake and dependence, while others influence only dependence. The research suggests that individuals can make lifestyle choices to improve their health and reduce risk, even with a family history of hea...
Researchers discovered a genetic marker, PTPN22, associated with a two-fold increased risk of rheumatoid arthritis. The variant impairs immune regulation, leading to hyperresponsiveness and inflammation.
A comprehensive DNA analysis of 744 healthy volunteers has identified 49 distinct genetic variants associated with increased risk of sudden cardiac death. These variants were found in specific ethnic groups and may impact diagnosis and testing for long QT syndrome, particularly among minority patients.
A new study identified three genetic variants associated with a 30% increase in prostate-specific antigen (PSA) levels. The discovery could lead to more accurate testing and fewer unnecessary biopsies, particularly for black men who are at higher risk of developing prostate cancer.
A recent study by A. A. Hoffmann et al. found that the fruit fly Drosophila birchii lacks genetic variation to adapt to changing thermal conditions, a concern for endangered species. UC Riverside's Derek Roff warns that global warming may exacerbate this issue, threatening the survival of already endangered species.
Researchers have found a potential genetic link between variations in the beta-2 receptor gene and a reduced risk of heart attack and death from coronary disease. The study, published by the American Heart Association, suggests that individuals with certain forms of the gene may be more resilient to cardiovascular disease.
Researchers found that cardiac surgery patients with the factor V Leiden gene variant lost less blood and required fewer transfusions than those without the mutation. The study suggests a new approach to personalized medicine, tailoring therapies based on individual genetic risk factors.
Researchers found that specific genetic variants, such as the val158met polymorphism in the COMT gene, influence an individual's sensitivity to pain. This genetic variation affects brain regions involved in pain perception and emotional regulation, leading to increased pain ratings and a more negative internal state.
A recent study found that individuals with two linked genetic variations are more likely to experience anxiety after consuming caffeine. The researchers validated a methodology that can identify individual differences in how people respond to major drugs, paving the way for future studies on other substances.
The HapMap project aims to chart genetic variation within the human genome by comparing differences among individuals. Researchers hope to create a tool to detect genetic contributions to many diseases, improving drug design and diagnostic tools.
A genetic variation in monoamine oxidase A (MAO A) enzyme may protect maltreated children against antisocial behavior, with a ninefold increased risk of aggression in those with low enzyme activity. In contrast, higher MAO A levels were associated with trauma resistance and reduced behavior problems.
A recent study published in Science finds that the genetic variation of the nene bird species decreased significantly between 160-850 years ago, likely due to human expansion on the island of Hawaii. The researchers used DNA analysis from ancient specimens and modern captive birds to draw this conclusion.
Researchers found that Hsp90 helps proteins fold properly by acting as a buffer for subtle genetic mutations. Lowering its function releases hidden genetic changes, which can lead to valuable new traits in plants and animals.
A study by Dr. David Veenstra at the University of Washington identified two genetic variants associated with an increased risk of severe bleeding incidents in patients taking warfarin. Patients with these variants required longer time to achieve stable dosing, suggesting potential for dose adjustment and closer monitoring.
Researchers have discovered genetic variations associated with high blood pressure, enabling a predictive test for hypertension risk. The test detects GRK4 protein variations linked to sodium elimination errors, significantly increasing lifetime risk.
Scientists challenge textbook example of natural selection eliminating variation from closely linked genes; Chromosome 4 has multiple regions with varying levels of recombination. High levels of genetic diversity are found on this previously thought 'non-recombining' chromosome.
A team of scientists led by Joanne Chory and Detlef Weigel studied the natural variation in light sensitivity across different Arabidopsis varieties. They found that strains from lower latitudes were less sensitive to light, and that specific genetic mutations affected the molecule's ability to transmit signals. The study sheds light o...
A systematic study confirms the potential of pharmacogenomics to improve drug therapies by selecting treatments based on a patient's genetic profile. However, the practice faces significant challenges, including inadequate training, funding, and concerns about racial inequities.
Researchers found that HBV polymerase mutations can restore viral replication rate while maintaining drug resistance, affecting treatment efficacy. Entecavir proved effective against even the most vigorous drug-resistant mutants, offering a promising alternative to lamivudine.
Studies found human evolution led to a decrease in high-risk genetic variants associated with these diseases, instead increasing protective e2 and e3 variants. Analysis suggests advantageous mutations may have driven this shift.
A study by Duke University Medical Center researchers has found a possible genetic link determining which heart patients are more likely to suffer kidney damage after surgery. The research team found that the E-4 variant of the apolipoprotein APO gene, already implicated in Alzheimer's disease, appears to offer protection to the kidneys.
A genetic variant of HIV linked to rapid disease progression in the US and Europe is rare in Africa, according to a new study. The findings may impact the design of HIV vaccines and therapies for underdeveloped regions where the epidemic is expanding.
Research suggests that people with E-4 variant of the apo gene are at high risk for developing Alzheimer's disease and vascular diseases. The study found significant differences in brain volume and white matter abnormalities between those with and without the gene variant, suggesting a link to silent strokes and cognitive decline.
Researchers at the University of Chicago have discovered a molecular mechanism that allows organisms to evolve new traits in response to environmental stress. The mechanism involves the protein heat shock protein 90 (Hsp 90), which normally keeps genetic variations silent but can reveal them during times of stress.
Researchers at Wake Forest University Baptist Medical Center demonstrated a gene-diet interaction that affects cholesterol absorption in humans. The study found that individuals with the apo A-IV-2 gene variant absorbed less cholesterol than those without the variant, particularly on diets high in polyunsaturated fat.
Scientists have discovered two new variants of the APC gene associated with an increased risk of bowel cancer. These variants, found in a study published in the Proceedings of the National Academy of Sciences, may be more common than previously thought and increase susceptibility to pre-cancerous polyps.
Researchers have identified a genetic risk factor for late-onset Alzheimer's disease, combining the E4 variant of apolipoprotein E with the butyrylcholinesterase K variant. This combination significantly increases the risk of developing Alzheimer's disease in people over 65 years old.
A study found that certain genetic variants next to the human obesity (OB) gene are associated with obesity in young women, as well as depression and anxiety. The results suggest a direct link between the OB gene variants and depression, rather than just secondary effects.
A University at Buffalo study finds that certain genetic variants near the human obesity gene are associated with obesity in young women, as well as depression and anxiety. The study also suggests that these genes may contribute to the development of behavioral disorders in young women.