Articles tagged with Genome Wide Association Studies
Weill Cornell Medicine researchers have developed a new approach to analyze genetic mutations associated with spina bifida, shedding light on this complex birth defect. The study uses machine learning to identify genes and molecular pathways relevant to neural tube closure.
Researchers identify eleven rare genetic variants associated with eczema, accounting for over 20% of the disease's heritability. The variants are found in genes that code for proteins involved in inflammatory reactions, providing promising targets for new therapeutic approaches.
Researchers have developed a polygenic risk score using diverse genomic data to predict elevated low-density lipoprotein cholesterol levels. This improves identification of genomic variants associated with blood lipid levels and provides a more accurate estimate of individual risk for heart disease.
A study found that specific DNA changes influence bowel habits and predisposition to IBS. Genetic profiles were correlated with questionnaire data, identifying regions of the genome involved in gut motility. This discovery may lead to new drug targets for treating constipation, diarrhoea, and dysmotility syndromes.
A Michigan Medicine study combined genetic samples from patients of different ethnic backgrounds, identifying two new psoriasis genetic signals. The inclusion of South Asian subjects allowed researchers to pinpoint several genetic variations within HLA genes that are likely to play a causal role in psoriasis.
A large-scale genome-wide association study has identified a region on chromosome 7 containing DNA variations that increase the risk of attempting suicide. The study found overlap between the genetic basis of suicide attempts and related psychiatric disorders, as well as non-psychiatric risk factors such as smoking and sleep disturbances.
A new study from Keck School of Medicine of USC shows that vaping is associated with dysregulation of mitochondrial genes and immune response genes, similar to smoking. The research found that over 80% of gene dysregulation in vapers correlated with the intensity and duration of current vaping.
A study led by Children's Hospital of Philadelphia researchers used stem cells to implicate several genes involved in bodily functions associated with the hypothalamus. The findings could help clinicians identify potential causes of dysfunction for traits regulated by the hypothalamus, such as sleep and stress.
New research enables regionally relevant eating-quality traits to be selected early in breeding programs, saving time and effort. Genetic markers associated with 10 grain-quality traits have been identified, which can now be used by rice breeders in Latin America and potentially worldwide.
Researchers at Johns Hopkins Kimmel Cancer Center found a new treatment option for inoperable pleural mesothelioma using immunotherapy agent durvalumab combined with platinum-based chemotherapy. Patients with epithelioid tumors experienced higher survival rates, including some who remained tumor-free after completing the trial.
Researchers at Osaka University analyzed data from over 200 health-related traits and diseases in an Asian population to identify specific genomic loci related to medical indications. The study found 14,000 genomic loci of phenotypic significance, including 5,000 novel discoveries.
A recent study has discovered genetic markers associated with high levels of lipopolysaccharide (LPS) in the blood, a toxin linked to sepsis and cardiovascular diseases. The research also found a connection between LPS levels and blood coagulation disorders, such as thromboembolism and stroke.
Researchers have discovered three new genetic variants linked to fibromuscular dysplasia, which affects women in their prime and is often associated with high blood pressure and cardiovascular complications. The study provides new insights into the disease's genetic basis and potential therapeutic targets.
Researchers have developed a federated analytics system, FAMHE, that enables healthcare providers to collaborate on statistical analyses and machine learning models without exchanging underlying datasets. The system has been proven mathematically secure and accurately reproduced published studies in multi-centric settings.
A study found that chronic stress, measured by allostatic load, was associated with a lower likelihood of completing chemotherapy and lower overall survival rate in patients with lymph node-positive or high-risk lymph node-negative HER2-negative breast cancer. Allostatic load may be a better predictor than genetic ancestry for chemothe...
A recent study using genome-wide data from 82 ancient individuals in central and southern Italy has clarified the origins of the enigmatic Etruscans. The results show that despite their unique cultural expressions, the Etruscans were closely related to their Italic neighbors, with genetic transformations associated with historical events.
Despite 10,000 years of inbreeding, the kākāpō genome sequencing reveals that the species has lost potentially deleterious mutations and now carries fewer harmful mutations than extinct mainland populations. This finding suggests that natural selection may have facilitated genetic purging in small populations.
Children genetically predisposed to overproduce lymphocytes in relation to other white blood cells are at higher risk of developing ALL, according to a new USC study. The research found that the ratio of lymphocytes to other key blood cells is significant in predicting leukemia risk.
A research team led by Dr Chaogu ZHENG discovered that bacteria-derived curli amyloid fibril promotes neurodegeneration in the host. Inhibiting curli production may be a preventative treatment for neurodegenerative diseases.
Researchers have uncovered thousands of new regulatory regions that control disease-linked genes, providing a significant step forward for genomics-driven precision medicine. This new resource, available worldwide, could help identify markers revealing which patients will benefit most from specific treatments.
Research identifies genetic variants associated with adherence to medication, suggesting a link between individual behavior and biological factors. The study found positive correlations between adherence and traits controlled by multiple genes, such as educational achievement and body mass index.
Researchers identified a large list of candidate genes associated with alcohol consumption and AUD, including SPI1 and MAPT. These genes are linked to other psychiatric and neurodegenerative disorders, such as depression and Alzheimer's disease.
Researchers at the University of Pennsylvania School of Medicine have identified 182 genes likely responsible for kidney function and 88 genes for hypertension. The study provides a clearer picture of the genetic underpinnings of chronic kidney disease, paving the way for potential treatments.
Researchers predict two nicotine biomarkers, NMR and TNE, in smokers of multiple ethnicities using machine learning approaches. These models can estimate nicotine biomarker levels from DNA data or existing genomic information.
A recent study found that genome-wide association studies (GWAS) often miss important associations between genotype and phenotype due to high genetic heterogeneity, but examining smaller, genetically homogeneous samples yields valuable new insights
A study by Karan Bedi and colleagues found that RNA splicing is inefficient, leaving many intronic sequences unspliced. The team analyzed Bru-seq data from six cell lines and identified variable patterns of splicing across genes and cell types.
The study used single cell technology to map epigenetic changes in different cells involved in coronary artery disease, revealing that genetic risk variants are particularly enriched in endothelial and smooth muscle cells. This research provides a new understanding of the role of these cells in transmitting susceptibility to the disease.
A global initiative involving Qatar Foundation Research has identified 13 loci associated with severe COVID-19 severity. The study highlights the importance of diversity in genetic datasets and paves the way for future therapeutic targets.
A comprehensive genetic study led by the University of Bonn has identified 45 new regions in the human genome associated with an increased risk of cleft lip and palate. These regions are linked to variations in DNA sequences that regulate gene activity, disrupting normal facial development.
A recent study published in Nature Human Behaviour has identified hundreds of genetic variants that influence the timing of first sex and birth. The research, led by Professor Melinda Mills, found that these genetic markers interact with environmental factors to shape reproductive behavior and later life disease risk.
A new study by Emory psychologists explains that genetic risks for nicotine dependence are linked to multiple traits and diseases, including schizophrenia, depression, and neuroticism. The research provides a more comprehensive understanding of the heritability of nicotine dependence, accounting for nearly 4% of its variation.
Researchers used genome-wide association studies (GWAS) to analyze whole-genome sequencing data of SARS-CoV-2 mutations and COVID-19 mortality data. They identified a mutation in the spike protein linked to increased mortality, which was later found to be part of the P.1 variant.
Researchers analyzed 7,548 SARS-CoV-2 genomes to find associations between genomic variants and patient deaths. They identified a key mutation linked to changes in the viral spike protein, which plays a crucial role in viral entry.
A large-scale ethnically diverse genetic study has identified more regions of the genome linked to blood glucose and insulin levels, contributing to type 2 diabetes risk. The study found that including different multi-ethnic participants yields more and better results than conducting research in Europeans alone.
A new study by Iowa State University scientists has developed an integrated framework to explain the complex interactions between a plant's genotype and environment. The framework uses advanced data analytics to predict crop performance and could lead to more accurate breeding of high-yielding crops.
Researchers discovered a genetic link between the HLA-DRB1*04:01 gene and reduced severity of COVID-19. The study found that individuals with this gene are three times more likely to remain asymptomatic compared to those without, suggesting potential protection against severe illness.
A genomic study of 194,000 females and 167,000 males in the UK Biobank finds no correlation between farming and reduced sex differences in size and shape. Genetic variations linked to physical traits show no significant increase in either males or females over the past 3,000 years.
A UCI-led study has identified key molecular mechanisms underlying complex traits and diseases, providing new insights into the role of genetic variation and environmental factors. The research reveals that specific molecular features associated with phenotypic variations contribute substantially to disease risk.
A global collaboration involving The Lundquist Institute has discovered 24 additional genome-wide loci linked to glycaemic traits in diverse populations. This expansion of genomic research has led to more accurate diagnoses and better treatment options for type 2 diabetes.
A large-scale genetic analysis of depression identified 178 loci and 223 single-nucleotide polymorphisms associated with increased depression risk. The study, involving over 1.2 million participants, provides new insights into the biological basis of depression and potential drug repurposing.
Researchers analyzed ancient DNA from 25 humans, revealing that the population dynamics between 40,000-9.5 ka were influenced by Ice Age climatic fluctuations. The study provides evidence for an Asian-specific variant associated with anthropogenic traits.
A new study has identified 178 gene variants linked to major depression, providing insights into the disorder's genetic complexity and potential treatments. The findings may help identify individuals most at risk of depression and inform personalized treatment approaches.
A study published in Nature Genetics found 64 genome regions associated with an increased risk of bipolar disorder, providing new insights into the condition's underlying biology. The research also highlights potential therapeutic targets for future treatments.
Research at Karolinska Institutet suggests a link between psychosis and a genetic change affecting the brain's immune system, potentially impacting the development of modern medicines. Psychosis affects approximately 2-3% of the population, with increased life expectancy for those with schizophrenia.
Researchers confirm presence of two distinct but interbreeding species of caecilians on São Tomé island. The study suggests that volcanic activity may have driven the divergence of the limbless amphibians around 300,000 years ago.
A study by Brigham and Women's Hospital has uncovered five genetic locations associated with progression in Parkinson's disease, identifying potential new targets for treatment. The research also developed a risk score to predict progression to dementia, a key factor in quality of life.
Researchers found that house mice on the east and west coasts developed similar traits, such as larger bodies and bigger nests, to cope with the cold. These genetic changes suggest distinct regional features like rainfall and soil color may have driven parallel evolution along the latitudinal gradient.
Researchers have identified 19 genes and 25 corresponding proteins that may contribute to the cause of depression. These findings offer promise as potential targets for new depression treatments and could serve as biomarkers for depressive symptoms.
A new study published in PLOS Genetics has found that genetic differences may contribute to higher rates of chronic pain in women. The study analyzed genetic variants associated with chronic pain in 209,093 women and 178,556 men, revealing sex-specific differences in gene activity.
A study has identified 13 rare gene variants associated with Alzheimer's disease, which are linked to the functioning of synapses and neuroplasticity. These discoveries could help guide the development of new therapies for this devastating neurological condition.
Researchers at Penn State developed a new statistical tool, MAMBA, to enhance replicability of large genomic datasets. The method estimates the probability that an experiment can be replicated with different individuals, mitigating the reproducibility crisis.
Researchers have discovered genes in peach's wild relatives that enable them to withstand stressful conditions, including cold, drought, and ultraviolet radiation. These genetic adaptations could help improve the resilience of domesticated peaches, making them better equipped to cope with climate change.
A new study has identified genetic variations that may contribute to the development of keratoconus, a progressive eye condition causing sight loss. The findings could lead to earlier diagnosis and potentially new therapeutic targets.
A new study reveals that fairy wrasses' diverged in form and colour after repeated sea level rises and falls during the last ice age, driven by an 'evolutionary arms race' to court females and chase off rival males. The research used a novel genome-wide dataset to reconstruct the fish's evolutionary history.
A recent study published in PLOS Medicine found that genetically determined vitamin D levels do not have a large effect on risk of type 1 diabetes among Europeans. The researchers used a Mendelian randomization design to examine the causal effect of vitamin D levels on the disease.
A new study reveals that over one third of genetic variants associated with coronary artery disease regulate liver-specific genes involved in cholesterol metabolism. Researchers pinpoint the causal single nucleotide polymorphisms and target genes mediating the risk, expanding our understanding of the disease's mechanisms.
Researchers investigated dynamic changes to DNA methylation in shift workers, finding that rest and recovery can restore gene function. The study suggests that insufficient sleep and related inflammatory consequences may mediate shift work disorder, highlighting the importance of sufficient rest for overall health.
African Americans have a distinct genetic risk landscape for inflammatory bowel disease (IBD), with specific genes contributing to risk, according to the first whole-genome study. The study identified rare genetic variants and highlights the need for personalized approaches to IBD treatment.
A genetic study found that increased Polynesian ancestry is linked to a higher risk of obesity, Type-2 diabetes, and heart failure in Native Hawaiians. The study suggests both genetic and lifestyle factors contribute to these disease risks.
Researchers identified three mechanisms that promote napping and found many genes also regulate sleep. The study linked napping to cardiometabolic health concerns, suggesting personalized recommendations may be needed.