Articles tagged with Polymorphism
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.
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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 study by Yale University researchers has identified a gene, ENPP1, linked to preterm birth and low birth weight in Hispanic women. The study found that this variant of the gene may be associated with deranged energy metabolism, a possible explanation for preterm births.
Researchers at Ohio State University have successfully used TRAP to preserve the genetic diversity of ornamental geranium collections. The study resulted in a significant reduction of the collection size from approximately 800 plants to around 200, making it more manageable for breeders and researchers.
The study found that plants without the linamarase enzyme lack the Li gene, while those with it produce cyanogenic glucosides. Researchers are testing hypotheses on why acyanogenic plants occur in cold climates, including the possibility of plant suicide due to frequent frosts.
A USC study found that sex-specific genomic profiling can predict clinical outcomes in colorectal cancer patients. The study, led by Dr. Heinz-Josef Lenz, identified molecular markers that differ between men and women, providing new insights into personalized chemotherapy treatments.
A study published in PLOS Medicine found a clear inverse relationship between the strength of alcohol control policies and alcohol consumption rates in 30 countries. The researchers used a new metric called the Alcohol Policy Index to compare policy strength across countries.
A study found that individuals with a G allele of the mu-opioid receptor gene crave alcohol more than those with the A allele. This genetic marker may be related to how much a person craves alcohol in high-risk situations, potentially affecting treatment options.
A study found associations between genetic polymorphisms and response to antidepressant treatment, suggesting personalized treatment options. Patients carrying specific gene variations had better response rates to norepinephrine reuptake inhibitors (NRIs) or selective serotonin reuptake inhibitors (SSRIs).
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.
Researchers found that Caucasians with the K55R polymorphism had an accelerated breakdown of beneficial fatty acids called EETs, which play a protective role in the cardiovascular system. This increase in EET degradation is associated with higher coronary heart disease risk.
A large European study found that a top candidate gene variant does not significantly increase the risk of osteoporosis, contrary to previous research. The study, which involved over 20,000 participants, suggests that genetic testing for this variant alone is not sufficient to accurately predict fracture risk.
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.
A study by Lopez et al. found that anti-malarial drugs significantly lower TNF-alpha levels in lupus patients with specific polymorphisms, improving treatment outcomes. Patients taking anti-malarials had better responses to therapy compared to those not on the medication.
Research confirms that individuals with a specific PTPN22 polymorphism are more likely to develop rheumatoid arthritis, with anti-CCP antibodies also playing a key role. The combination of these factors strongly predicts the onset of RA with a specificity of 100% for the disease.
Researchers identified six gene variants associated with post-operative myocardial infarction following cardiac surgery. Collectively, these variants can explain 75% of the variability in heart damage, allowing physicians to identify high-risk patients and take precautions during and after surgery.
Researchers identified a genetic link between inflammation and an increased risk of stroke after heart surgery. A specific combination of polymorphisms in genes responsible for C-reactive protein and interleukin-6 was found to be associated with a higher rate of stroke in patients.
Research suggests that certain genetic variations associated with asthma and allergies may lower the risk of glioblastoma multiforme (GBM), the most common type of brain cancer. The study found that individuals with specific polymorphisms on two genes, IL-4RA and IL-13, had a lower GBM risk.
Research suggests that saturated and trans fats activate a specific potassium channel in the pancreas, increasing blood sugar levels and insulin secretion. People with a specific genetic polymorphism, found in about 2 million Canadians, may be more susceptible to type 2 diabetes if they consume high-fat diets or are overweight.
A new study from St. Jude Children's Research Hospital found that both inherited genetic traits and tumor mutations can affect the response to treatment of leukemia. The research identified specific genes, such as GSTM1 and TYMS, that predict which children are at higher risk of relapse after initial therapy.
Researchers identified specific genetic variants that increase the risk of kidney damage after heart surgery. Patients with these polymorphisms have a higher likelihood of renal dysfunction due to amplified inflammatory responses and vascular constriction.
A genetic variant in PPAR-alpha has been linked to reduced heart pumping strength, with patients inheriting the polymorphism experiencing lower ejection fractions. The study's findings suggest that PPAR signaling may play a key role in the development of heart failure, and future research aims to develop therapies targeting this pathway.
A study published in JAMA found that a specific genetic variation in the COX-2 gene is associated with a reduced risk of myocardial infarction and ischemic stroke. The -765GC polymorphism was more prevalent in controls than in patients, resulting in a 52% lower relative risk of MI and a 67% lower relative risk of ischemic stroke.
Researchers found that a gene variation associated with schizophrenia may have an evolutionary advantage, promoting human survival. The HOPA12pb polymorphism is more common in men and may be involved in resistance to infection and infant survival.
A UCSD study of 1,049 HIV-infected children found that specific genetic mutations can affect disease progression and immune system response to the virus. Children with certain polymorphisms, such as CCR5-delta32, showed slower disease progression, while others were more susceptible to worsening symptoms.
Researchers identified a distinct phenotype of individuals with co-existing ADHD and alcoholism, characterized by increased severity of alcohol dependence and earlier age of onset. Adults with ADHD were found to be at high risk of developing an alcohol-use disorder, with a significantly higher daily intake of alcohol.
A recent study found an association between the DdeI polymorphism of the DRD1 gene and sensation seeking among alcoholic males. The research suggests that genetic factors, such as this specific dopamine receptor gene, may play a role in understanding the complex disorder of alcoholism.
A study of over 78,000 women found that those who worked rotating night shifts for years had a 35% greater risk of developing colorectal cancer. Additionally, research on melanoma suggests two separate pathways may lead to its development, and polymorphisms in certain genes may be associated with prostate cancer risk.
Researchers investigated a repeat polymorphism in the estrogen receptor alpha gene and found associations with neuroticism, psychoticism, and non-conformity. The study suggests that genetic variations in this gene may contribute to specific components of personality.
A study has identified specific combinations of H. pylori bacterial strain and host genetic variations that increase the risk of stomach cancer in infected individuals. These findings suggest that personalized genotyping can help identify high-risk individuals, who may benefit from targeted H. pylori eradication treatment.
A study led by Mark T. Keating found that 13.2% of African-Americans carry an altered form of the SCN5A gene, linked to prolonged contraction of heart muscle cells and arrhythmia risk. The variant can be detected through simple tests, allowing for preventive measures such as avoiding certain medications and monitoring potassium levels.
A genetic variant of an immune system receptor appears to simultaneously dampen the body's immune response to bacteria and other microbial toxins and provide protection against atherosclerosis. The researchers believe this discovery suggests a possible new approach to anti-atherosclerosis drugs.
A genetic polymorphism in the PON1 gene has been found to significantly increase stroke risk in young adults by a factor of 4.10 compared to those without the abnormality. The presence of this genetic abnormality also interacts with other risk factors, such as smoking and high blood pressure, to multiply stroke risk.
The study examined PON1 activity in children and adolescents with high lipid levels, finding associations between certain genotypes and HDL cholesterol levels. The researchers also found that dietary fat intake increased over time, contradicting expected trends in the nutritional intervention population.
A new statistical approach identifies four DNA sequence variations in three genes that work together to heighten a woman's risk of breast cancer. The technique, called Multifactor Dimensionality Reduction, can analyze multiple gene interactions using data from a reasonable number of patients.
Scientists have found evidence that trichromatic or full color vision originated in prosimians, a group of lemurs, Bush Babies and pottos, rather than in higher primates. The new research pushes the origin of primate color vision back roughly 20 million years to about 55 million years ago.
Researchers found a link between fruit fly gene variations and mood disorders in males, but not females. The study suggests the human homologue of the white gene may play a role in controlling mood and anxiety.
Researchers found that aspirin targets patients with the altered gene PlA2 polymorphism, making them 10 times more sensitive to its effect. This discovery could help determine which people benefit most from daily aspirin doses and when other non-aspirin drugs are needed.
Researchers found no association between a serotonin transporter gene polymorphism and the tridimensional personality questionnaire's harm avoidance dimension. The study included 120 normal adult volunteers and explored relationships between the serotonin transporter gene polymorphism and various personality dimensions, including novel...
Researchers discovered a significant link between a specific genetic polymorphism and opioid dependence in humans. The long form of the dopamine D4 receptor Exon III seven repeat allele was found to be overrepresented in opioid-dependent subjects, indicating a potential genetic predisposition to addictive behavior.