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 identified DNA sequence variations associated with abnormal heart rhythms in multiple regions of the human genome. The study found links between these variations and increased risk for sudden cardiac death and heart damage.
Researchers found a genetic difference in TEP1 gene conferring resistance to human malaria parasites in one of two emerging Anopheles gambiae species, M and S. The study suggests that this resistance could impact malaria transmission efforts.
A study found that primate immune system differences explain why humans are more susceptible to certain viral infections, such as HIV and hepatitis B. Genomic comparisons revealed unique gene expression patterns in humans compared to chimpanzees and rhesus macaques.
Researchers found a duplicated region of DNA on chromosome 5 predisposes people to major depression, implicating disruptions in neurotransmission networks. The study identified 12 copy number variations exclusive to MDD cases, with a large duplication of the SLIT3 gene contributing to the risk.
The National Eye Institute has expanded its genetic and clinical research database by adding more than 72,000 lens and fundus photographs from the Age-Related Eye Disease Study (AREDS). These images are now accessible to scientists through NCBI's online database of Genotypes and Phenotypes, dbGaP.
Scientists have discovered 30 new genes that control the age of sexual maturation in women, which also affect body weight regulation and fat metabolism. The study found associations between these genes and early menarche, as well as increased risk of health problems like obesity, type 2 diabetes, and cardiovascular disease.
Researchers found intriguing clues to genes associated with anorexia nervosa, including genes active in neuronal signaling and shaping interconnections among brain cells. The study also identified several rare CNVs that occurred only in AN cases, suggesting that both common SNPs and rare CNVs contribute to the disorder.
Mayo Clinic researchers discovered a connection between two proteins, progranulin and sortilin, which may lead to new treatment options for frontotemporal lobar degeneration. The study found strong associations between genetic variants in the same region of chromosome 1 and plasma progranulin levels.
Researchers tested genetic variations in 1,262 people with no history of heart disease and found that genetic scores can modify the estimated risk of heart attack. The study suggests that genetic screening may be most valuable for individuals thought to be at intermediate risk using current models.
A study of nearly 50,000 people has identified DNA sequence variations associated with cardiac electrical activity, which may lead to novel approaches to prevent or treat serious rhythm disorders. The findings provide new clues about the biologic pathways that influence cardiac conduction and identify genes and genetic pathways involve...
Researchers at Children's Hospital Boston identified a novel human pain gene, α2δ3, associated with different sensitivity to acute and chronic pain. Minor variations in this gene were found to be linked to reduced pain sensitivity, while certain polymorphisms were also associated with increased risk of chronic pain.
Researchers at the Allen Institute have published a comprehensive study on the effects of sleep deprivation on gene expression in the mouse brain. The findings reveal novel genes and brain areas affected by sleep deprivation, providing potential targets for therapeutic intervention.
A recent study published in PLoS Genetics has identified genetic variants that may modify the risk of breast cancer in women with BRCA2 mutations. The research found that variants near the ZNF365 gene decreased breast cancer risk by approximately 25 percent, while other variants like FGFR2 increased risk.
Two strains of the Anopheles gambiae mosquito are becoming genetically distinct, potentially rendering current control methods ineffective against one strain. The research highlights the need for targeted strategies to monitor and adapt to these genetic changes.
A genome-wide association study of 2,622 patients with psoriasis and 5,667 healthy individuals has identified six regions of the genome associated with the condition. The study found evidence for an interaction between two associated regions – HLA-C and ERAP1, providing new insights into psoriasis susceptibility.
Researchers identified 17 copy number variations associated with childhood obesity, exclusive to obese children across two ethnicities. The study adds to the evidence that genes play a strong role in childhood obesity, highlighting potential genetic influences for prevention and treatment.
Researchers identified multiple genetic mutations associated with childhood obesity, including deletions and duplications of specific genes. The study reveals unique genetic profiles exclusive to two ethnicities, offering new insights into the complex biology underlying childhood obesity.
Researchers identified biomarkers associated with radiation response that could help tailor individual cancer treatments. The study employed a pharmacogenomics approach, integrating genome-wide data to find genetic variants and gene expression patterns linked to radiation response.
A global team of scientists, led by Albert Einstein College of Medicine researcher Robert Kaplan, has identified hundreds of gene variants that influence adult height. The study, which analyzed data from nearly 184,000 people worldwide, proves the effectiveness of genome-wide association studies in explaining observable traits.
A large international study has identified hundreds of genes contributing to human height, revealing that a combination of multiple genes determines an individual's stature. The research points the way for future studies exploring how these genes interact to impact growth and development.
A collaborative study identified 180 genetic loci influencing height, clustered around genes in six biological pathways. The findings shed light on the complex genetics of height and its relationship to other traits.
A genome-wide association study has identified a gene, MTHFD1L, associated with an increased risk of late-onset Alzheimer's disease. Individuals with a particular variation in this gene may be twice as likely to develop the disease.
A consortium of cancer researchers has identified four chromosome locations with genetic changes that may alter a woman's risk of developing ovarian cancer. These findings are based on a large genome-wide association study and could lead to individualized risk assessments for ovarian cancer.
Researchers identified five genetic variants associated with increased breast cancer risk in BRCA1 carriers, including those related to estrogen-receptor-negative and triple-negative disease. These findings may help identify individuals at lower or higher risk of cancer, enabling tailored cancer prevention strategies.
Researchers at VCU have identified a potential risk gene for schizophrenia, CMYA5, associated with cardiomyopathy. The study involved over 33,000 participants and verified the findings through multiple independent samples.
A team of researchers from Mayo Clinic used electronic medical records (EMRs) to launch a genome-wide association study of peripheral arterial disease (PAD), which affects approximately eight million Americans. The study demonstrates the feasibility of leveraging EMRs for genetic research, offering advantages over traditional approaches.
Studies confirm a region of chromosome 9 is associated with an increased risk of ALS across multiple populations. Genetic variations identified in the Finnish population contribute to familial and sporadic cases, suggesting a strong genetic link. The study provides new insights into the causes of ALS.
Scientists at Nationwide Children's Hospital have discovered a distinct blood transcriptional signature associated with active TB, which may help identify patients at risk of developing the disease. The study found that this signature was present in 10-20% of latent TB patients and correlated with disease extent in active TB patients.
Researchers have discovered a genetic risk factor associated with common types of migraine, revealing a potential explanation for the link. A DNA variant on Chromosome 8 regulates glutamate levels in nerve cells, which may play a key role in migraine attacks.
A genome-wide association study has revealed a strong link between a gene in the human leukocyte antigen region and Parkinson's disease, implicating the immune system. The study suggests that inflammation is involved in the origin of the disease, not just a symptom.
Researchers found that gene variants associated with type-1 diabetes and rheumatoid arthritis confer previously unknown benefits to their human carriers. This suggests that the human race may be evolving towards greater susceptibility to complex diseases.
Researchers identified a genetic variant on chromosome 18 associated with increased TB susceptibility in African populations. The study demonstrates the feasibility of genome-wide association studies in Africa, which have been successful in European populations but faced challenges due to high genetic diversity.
Researchers discovered 95 gene loci associated with lipid metabolism, including factors like cholesterol and triglycerides. The findings may lead to new treatments for coronary artery disease, as genetic variants offer molecular targets for cholesterol-lowering drugs.
The study analyzed DNA from over 100,000 people worldwide and found 95 genetic variants contributing to high cholesterol and triglyceride levels. The findings provide new clues for developing effective medicines to combat heart disease.
A genome scan has identified a gene, Sort1, that regulates LDL-C levels and is associated with heart disease. The study found that increasing liver sortilin protein reduced plasma cholesterol and may provide a new target for treating cardiovascular disease.
A study published in JAMA found that a genetic risk score is strongly associated with an increased risk of breast cancer and can predict the type of disease. The researchers identified specific genes that have different effects on different subtypes of breast cancer.
A new study by Jorge Contreras explores the 15-year struggle over data-release decisions in human genome research, highlighting a balancing act between researchers' needs and data users' rights. The study's findings have implications for various scientific fields beyond genomics, including climate change and chemistry.
Researchers have identified associations with the HLA-B51 region of the MHC and variants on chromosome 1, including a known variant of the IL10 gene. These findings suggest that low levels of IL-10 protein may be a risk factor for Behcet's disease.
A genetic variant associated with increased expression of oncogene MYC has been identified in a gene desert, increasing prostate cancer risk. The study showcases a new protocol for studying cancer-risk variants in gene deserts and highlights the importance of regulatory sequences in controlling gene expression.
Researchers from Boston University identified 19 genetic clusters, or 'signatures,' associated with exceptional longevity in centenarians. These signatures correlated with differences in disease prevalence and age-of-onset, potentially helping identify subgroups of healthy aging.
Researchers discovered 12 new regions on the genome with DNA variants linked to type 2 diabetes, raising hopes for early detection and prevention. The study also revealed surprising overlaps between type 2 diabetes and non-related diseases.
23andMe's web-based research framework facilitates rapid recruitment of participants, reducing time and money needed for new discoveries. The study replicated several known genetic associations, including novel SNP associations for hair curl and freckling.
Researchers found a group of seven genes that significantly impact platelet clumping, offering new targets for developing diagnostic tests and treatments for arterial disease. The study used data from two large studies to identify the genetic factors behind blood clotting, providing insights into promoting healing and stalling disease ...
Researchers found rare variants in the SIAE gene that occur almost nine times more frequently in individuals with autoimmune disorders. These variants interfere with the enzyme's activity or secretion, potentially leading to an increased risk of conditions like rheumatoid arthritis and type 1 diabetes.
A study found that genetic variants and neuroimaging measures are associated with Alzheimer's disease risk, providing new insights into the condition's mechanisms. The research identified three new genetic loci linked to Alzheimer's disease, as well as two new targets for future study.
A genome-wide association study found three genetic variants significantly associated with vitamin D concentrations and risk of insufficiency. Participants with certain genotypes were at two-and-a-half times increased risk of having low vitamin D levels, highlighting the importance of genetic factors in regulating vitamin D status.
A recent study has found that Jewish people from different regions share a common ancestry and distinct genetic traits. The research provides detailed genetic maps of major Jewish subpopulations, which can help understand genetic links to diseases like heart disease, cancer, and diabetes.
Researchers have identified distinct Jewish population clusters with shared Middle Eastern ancestry and variable degrees of European and North African genetic intermingling. The study suggests that Jewishness can be identified through genetic analysis and highlights the importance of understanding the complex history of Jewish migrations.
Researchers found genetic risk factors for nasopharyngeal carcinoma (NPC) linked to HLA locus and three new genes TNFRSF19, MDSIEVI1, and CDKN2A/2B. The study advances understanding of NPC's role in southern China's high prevalence.
A new study found that genome-wide association studies (GWA) have identified several genetic risk factors for common cancers, but their predictive power is limited by small effect sizes. The study suggests that performing GWA studies using larger sample sizes would yield more genetic loci with smaller or very small effects.
Researchers at Stanford University present an environment-wide association study (EWAS) to examine the contributions of hundreds of environmental factors in Type 2 diabetes. They found strong associations with pesticide derivatives and certain nutrients, suggesting a potential protective role.
Researchers at Stanford University School of Medicine discovered a previously unknown association between type-2 diabetes and high levels of polychlorinated biphenyls and gamma-tocopherol, a form of vitamin E. The novel analytic technique, called environment wide association studies (EWAS), identified these relationships surpassing tho...
A team of researchers has identified two new genes that may play a role in the development of late-onset Alzheimer's disease. The study, published in the Journal of the American Medical Association, used genome-wide association analysis to identify the genes on chromosomes 2 and 19, which were found to be associated with AD.
A study identified two genetic variations linked to Alzheimer's disease, but these did not enhance the ability to predict AD risk. The findings provide insights into pathophysiological mechanisms of AD.
A genome-wide association study has identified three new genetic loci significantly associated with quantitative eye colour variation, explaining over 50% of the trait's variance. The study used high-resolution full-eye photographs to quantify human eye colour along multiple dimensions.
The Fred Hutchinson Cancer Center has been awarded $10.24 million from the NIH to investigate breast cancer disparities among Hispanic women. The research aims to understand and prevent breast cancer in this population, with a focus on improving mammography screening rates and exploring the interplay of risk factors and biology.
A study published in Nature Genetics has identified four genes, including MAFB and ABCA4, linked to cleft lip and/or cleft palate. The genome-wide association study involved 1,900 families from diverse ancestry groups, revealing new insights into the causes of this congenital malformation.
A new approach detects rare but powerful causal gene variants, accounting for significant proportions of the 'missing heritability' problem in common diseases. The technique may identify individual patients with specific mutations, enabling more meaningful diagnostic results and potential treatments.
A new genetic link to systemic sclerosis has been identified in a study published in Nature Genetics. The research found that a region of the human genome associated with increased susceptibility to the disease was discovered, which could lead to developing interventions to block its activity.
Scientists at Duke University Medical Center discovered a strong link between rare gene variants on chromosome 16 and the development of various seizure disorders. The study found that deletions in this region can cause a wide range of neurological disorders, including schizophrenia and specific forms of epilepsy.