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.
Research at Karolinska Institutet in Sweden links specific DNA variants to IBS in women, explaining its higher prevalence compared to men. The study found associations with constipation-predominant IBS and harder stools, reinforcing the role of sex-hormones.
The study found that Buša cattle account for a significant proportion of neutral genetic diversity in Bos taurus worldwide. The breed's unique genetic variation makes it an important conservation target for maintaining global genetic and functional diversity.
An international team has confirmed a new genetic mutation link to amyotrophic lateral sclerosis (ALS) by identifying KIF5A as a key player in axonal transport. The study used massive amounts of genetic data to pinpoint the link, providing important new directions for future gene therapies.
Researchers identified new genetic clues for enhanced racing pigeon performance through whole genome sequencing and gene expression analysis. They found a polygenic basis for the birds' adaptations, with key genes involved in athletic performance such as CASK, SIK1, and PTPRD.
A new liquid biopsy method has been developed to detect cancer heterogeneity with high accuracy and reduced cost. The approach uses a streamlined protocol to profile single circulating tumor cells from a simple blood test, enabling genome-driven targeted therapy selection and monitoring of disease progression.
A large-scale genome-wide association study found that insomnia has a partially heritable basis and a strong genetic link to type 2 diabetes. The study also identified specific gene variants on chromosomes 7 and 9 associated with insomnia.
Researchers have developed a polygenic risk score to identify adults with mild cognitive impairment (MCI) in their 50s, who are at higher risk of developing Alzheimer's disease. The score correctly identified individuals with MCI and showed that those with cognitive deficits other than memory problems were more likely to have diabetes.
A new approach filters genes for study, reducing false leads and accelerating research on diseases like Parkinson's and Alzheimer's. The strategy focuses on active genes, group interactions, mutation vulnerability and past studies to narrow down gene candidates, saving researchers time and money.
Researchers identified dozens of genetic variations affecting blood pressure by analyzing cigarette smoking behavior in a large cohort. The study confirms the role of known genes and identifies novel ones associated with blood pressure regulation, offering potential for individually targeted treatments.
The study provides a comprehensive genomic portrait of elephants, including extinct mammoths and mastodons. Gene flow between species was more common than previously thought, contradicting simple tree-like relationships.
A genome-wide association study identified a new genetic alteration, RGMA variant, linked to opioid dependence in European-Americans. The study provides insight into the biological origins of opioid dependence and may lead to novel pharmacological approaches for treatment.
The study confirmed two major migrations through southeastern Europe, with early farmers from Anatolia spreading westward and a steppe population replacing northern Europe's population. The region remained a genetic contact zone between East and West until the Bronze Age.
A large-scale study of genetics and smoking habits sheds new light on the complexities of controlling blood pressure, identifying potential genes of interest for new treatments. The research found surprising links between blood pressure and genes related to addiction, metabolic problems, and kidney disease.
A genome-wide association study has identified 1,407 genetic variations affecting 58 traits in a large cohort of Japanese individuals. The study also found complex interrelations between clinical measurements and diseases, highlighting the value of conducting GWAS for multiple traits in a single cohort.
A study has identified five novel genetic variants associated with attention-deficit/hyperactivity disorder (ADHD) that also influence educational attainment. The findings suggest a shared genetic basis between the two conditions, which may contribute to academic underachievement in children with ADHD.
Researchers analyzed blood samples from nearly 10,000 people and found gene variants associated with intrinsic and extrinsic epigenetic age acceleration. Variants in the TERT gene were linked to older epigenetic aging rates and longer telomeres, highlighting its critical role in regulating the epigenetic clock.
A study published in Science Advances found that prenatal famine exposure leads to changes in DNA methylation, which can influence adult body mass index and triglycerides levels. The researchers discovered that these epigenetic changes are similar to those seen in the general population.
A study of Irish genomes reveals 23 distinct clusters separated by geography, with British ancestry influencing western populations. The research also detects genetic input from Europe and estimates the timing of historical migrations, including those of the Norse-Vikings and Anglo-Normans.
A new genetic tool predicts the age of onset for aggressive prostate cancer, guiding decisions on PSA screening. The polygenic hazard score is a highly significant predictor of age at diagnosis, estimating individual genetic risk.
A large-scale study published in Nature Genetics identified 13 genes associated with body mass index (BMI) and obesity. The study found that genetic variations in these genes can affect the function of the genes and their proteins, leading to weight gain or loss. The researchers hope that this discovery will lead to personalized treatm...
An international study discovered five new regions of the genome associated with increased asthma risk, characterized by epigenetic marks on gene enhancers. The genetic variants also show associations with auto-immune diseases and inflammatory component diseases, highlighting the importance of pleiotropy in multifactorial diseases.
A large-scale international study has expanded the number of genetic markers associated with human longevity to 25, including genes involved in senescence and inflammation. The findings suggest that combining multiple genetic variants can influence human lifespan, highlighting potential targets for interventions.
A large-scale international study has identified 25 genetic loci associated with exceptional longevity in 389,166 UK biobank participants. The study found that genes involved in senescence and inflammation play a significant role in determining human lifespan.
A University of Kansas study found that genetic differences between populations of Malaysian torrent frogs were misinterpreted using common methods, leading to the overestimation of new species. The researchers suggest a more cautious approach to species identification, accounting for gene flow among populations.
Researchers characterized two classes of GGAA-microsatellites that interact with EWS/FLI binding sites, revealing unique regulatory mechanisms for cancer susceptibility and treatment
Researchers have developed a comprehensive genomic sequencing approach that guides timely treatment for recurring brain cancer, resulting in extended progression-free survival. Two patients survived over a year without disease recurrence, demonstrating the potential of precision medicine in aggressive and refractory tumors.
A large genome-wide association analysis identifies novel gene-smoking interactions in lung cancer development, providing new candidate biomarkers. The study found three SNPs associated with non-small cell and squamous cell lung cancer risk, stratifying lung cancer risk by smoking behavior.
A study published in Nature Communications has identified five genetic risk loci associated with food allergies in children, highlighting the importance of skin and mucous membrane barriers. The research, involving over 1,500 participants, also found that four of the five risk loci are linked to other chronic inflammatory diseases.
Researchers at Tokyo Medical and Dental University identified two variants of single-nucleotide polymorphism associated with SVC arrhythmogenicity. These genetic factors, age, body mass index, and left ventricular ejection fraction, play a role in atrial fibrillation development.
Researchers have identified a new gene associated with peanut allergy, suggesting a role in general allergic predisposition. The study's findings suggest potential targets for predicting and managing food allergy treatments.
A DNA variant in the DNMT3B gene is associated with an increased risk of nicotine dependence, as well as heavier smoking and a higher likelihood of developing lung cancer. The study, which analyzed over 38,600 participants, provides new insights into the genetic factors influencing addiction.
Researchers identified a mutated gene in budgies that synthesizes the bird's yellow pigments. The findings could be applied to many parrots around the world and shed light on the evolutionary change that led to their brilliant colors.
A unique mutation in the ACMSD gene has been identified in a 74-year-old man with Parkinson's disease, which may be linked to an increased risk of neurodegeneration. This discovery could lead to a better understanding of the disease and potentially inform the development of new therapeutic strategies.
A landmark study has identified six gene regions associated with the length of pregnancy and timing of birth, which may lead to new ways to prevent preterm birth and its consequences. The study, involving over 50,000 women, provides a robust understanding of genetic factors contributing to preterm birth.
A massive genetic study has identified 153 new gene variants linked to osteoporosis, which could lead to the development of a new treatment. The study found that removing a strongly implicated gene GPC6 in animal models resulted in increased bone thickness.
A recent study suggests that variations in mitochondrial DNA originating from ancient human migrations may play a key role in predisposition to autism spectrum disorders. Individuals with specific European haplogroups had significantly higher risks of ASD compared to others.
A new study published in Nature Communications reveals genetic variants that affect the immune response to infections, linking genetics and environment to disease risk. The research identified hundreds of genes where gene expression changes depend on individual genetic variants, shedding light on the genomic elements underlying immune ...
Women with early or normal onset menopause are at a higher risk of developing type 2 diabetes than those with late onset menopause. The study found that women who experienced menopause before age 40 were almost 4 times more likely to develop T2D.
Researchers found that a mutation causing an inversion on the Z chromosome increases sperm velocity and morphology, leading to higher fertilization rates and reproductive success. This study provides insight into the evolutionary mechanisms underlying infertility in zebra finches.
A new study has identified 18 genetic variations associated with lung cancer risk and 10 new gene variations. The research, conducted by an international team, used a special research platform called OncoArray to gather genotype data from different studies worldwide.
A study by Harvard University found a genetic 'switch' that controls the activity of a key skeletal gene related to height, which is also linked to an increased risk of osteoarthritis. The variant, more prevalent in Eurasian populations, favors shortness and is associated with lower GDF5 activity in growth plates.
A large international team of researchers has identified genetic abnormalities that are the first definitive risk genes for Tourette Syndrome. The study, which analyzed a sample of 2,400 patients and 4,000 controls, found that variations in copy number at specific genes were associated with an increased risk of developing the disorder.
A research team has identified rare mutations in two genes, NRXN1 and CNTN6, that increase the risk of Tourette syndrome. The study found an overall increase in large, rare copy-number variants in TS patients, with each variant primarily occurring in just one individual.
A gene variant protecting against Alzheimer's disease significantly decreases plasma beta-amyloid levels in a population cohort. The findings provide support for the amyloid cascade hypothesis and offer insights into future research directions.
A new study published in Cell suggests that virtually any gene can influence disease, with peripheral genes having tiny but significant effects. The 'omnigenic model' proposes a more nuanced understanding of genetic variation and its role in disease.
Researchers have identified 18 new lung cancer susceptibility loci, including 10 novel ones, in the largest genome-wide association study to date. The study found variation around a subunit of the nicotinic receptor and genes related to telomere function play a significant role in adenocarcinoma risk.
Researchers linked lower levels of WNT10A protein to male pattern baldness and found a treatment mechanism involving beta-catenin signaling. Small molecule drugs targeting this pathway may treat hair thinning and palm skin defects in WNT10A patients.
A new study found that genetic variants on chromosome 3 are associated with better performance on the 'Reading the Mind in the Eyes' Test, which measures cognitive empathy. Women tend to score higher than men, and variations in the gene LRRN1 are linked to increased volume of the brain region involved in this skill.
A recent study has successfully recovered and analyzed ancient DNA from Egyptian mummies, providing new insights into the genetic history of ancient Egyptians. The research found that modern Egyptians share more ancestry with Sub-Saharan Africans than ancient Egyptians did, and were most closely related to ancient populations in the Ne...
Researchers identified a risk locus for urinary incontinence near the endothelin gene, which is involved in bladder contraction. The study suggests that drugs targeting this pathway may help alleviate symptoms, offering new hope for women suffering from stress and isolated urgency incontinence.
Researchers have identified 16 new genetic markers associated with psoriasis, bringing the total to 63 loci linked to the disease. The largest psoriasis meta-analysis to date, involving over 39,000 participants, has shed light on pathways related to the disease and pinpointed potential gene targets.
Researchers identified a genetic locus on chromosome 12 associated with anorexia nervosa, which also shows correlations with neuroticism and schizophrenia. The study suggests that anorexia may have both psychiatric and metabolic roots, potentially leading to new treatment opportunities.
A large study from the Psychiatric Genomics Consortium found that genetic influences play a role in PTSD risk after trauma, with strongest effects among women. The research also identified significant overlap between PTSD and other mental disorders like schizophrenia and bipolar disorder.
Researchers discovered rare genetic variants on chromosomes 4 and 7 linked to extended survival and lower risks of cardiovascular disease and Alzheimer's. The study highlights the importance of studying rare cases to identify combinations of common and rare variants associated with extreme longevity.
A UB-led study of postmenopausal women found that those at the highest genetic risk for fracture benefit most from hormone therapy. The study, which included nearly 10,000 participants, suggests personalized medicine could help prevent fractures in older women.
A genome-wide association study reveals three novel genomic loci linked to Fuchs endothelial corneal dystrophy (FECD), a condition affecting the cornea and causing progressive vision loss. The findings provide new insights into the disease's pathology and potential therapeutic targets.
A massive meta-analysis of brain tumor data has identified 13 new genetic risk factors for glioma, doubling known risk factors. The study provides a better understanding of the disease and may help doctors diagnose high-risk patients early.
A massive study of over 30,000 participants has identified 13 new genetic mutations that significantly increase the risk of developing glioma, the most common form of brain cancer. The research also strengthens evidence for previously known genes linked to glioma and other cancers.
Researchers have created a polygenic hazard score that predicts age-specific risk of developing Alzheimer's disease based on genetic information. The score identifies individuals with higher genetic risk who develop AD at an earlier age, even among those without the APOE E4 allele.
A team of USC researchers has identified the intraflagellar transport 88 (IFT88) gene as a potential cause of human cleft lip and palate. The study found that three siblings born with the condition shared a common gene mutation, which was also present in mouse models.