Articles tagged with Genome Wide Association Studies
Researchers have identified 68 genetic variants involved in platelet formation, including a novel role for tropomyosin 1 in platelet production. The study found that genes associated with heart attacks and strokes overlap with those affecting platelets, offering potential new targets for treatments.
A study characterizes epigenetic signatures of autism in brain tissue, finding hundreds of genomic loci affected by altered histone methylation. The research provides new insights into the genetic and epigenetic risk maps of developmental brain disorders.
A genome-wide association study has identified the TBL1X gene as a novel candidate gene for autism spectrum disorder (ASD) in males. The study found an association between variations in the TBL1X gene and an increased risk of ASD, with an estimated 15% increase in risk.
Researchers have identified a human chromosome containing a specific gene associated with susceptibility to herpes simplex labialis (HSL), the common cold sore. The study found a positive link between the frequency of outbreaks, hereditability, and the presence of a specific gene, C21orf91, on chromosome 21.
Researchers have identified two genetic variants associated with increased dengue susceptibility, offering clues to the body's response to infection. The study found changes in DNA code of MICB and PLCE1 genes that increase a child's risk of dengue shock syndrome.
A new study has identified 42 genetic regions associated with liver function, providing a better understanding of liver damage and disease. The research, involving over 61,000 people, may lead to new treatments that can improve liver function and prevent liver damage.
A genome-wide association study found genetic variants associated with increased risk of low testosterone concentrations in men. The study, which pooled data from 14,429 Caucasian men, identified specific genes, including SHBG and X chromosome variants, linked to lower testosterone levels.
Research reveals a link between diabetes and cancer, showing that cancer-promoting proteins like Lin28a can increase insulin sensitivity in mice, while others with high let-7 levels become more resistant to diabetes.
A new study reveals that fruit fly aggression is correlated with smaller brain parts and involves complex interactions between networks of important genes. The findings also show that certain portions of the fly brain affected by hyper-aggressive flies, and that calming did not necessarily come through chemistry.
A large-scale genetic study has uncovered new genes associated with type 1 diabetes, a condition affecting 200 million people worldwide. The research adds to knowledge of gene networks involved in the origin of this complex disorder.
Researchers develop a comprehensive genetic model that integrates various types of genetic variation, including single gene changes, chromosomal alterations, and de novo mutations. This framework recognizes the importance of both inherited and new genetic variants in disease susceptibility.
A genetic variant in the GLCCI1 gene may explain why some people with asthma do not respond well to inhaled corticosteroids. Researchers found that individuals with two copies of the variant responded only one-third as well to steroid inhalers as those with regular genes.
Researchers analyzed genomes from East Asian, European, and African populations to discover the San people diverged from other humans 130,000 years ago. This finding contradicts previous estimates, providing a richer understanding of human evolution.
Research reveals 11 genomic regions associated with mental illness, including six previously unknown areas. The findings provide fresh insight into the causes of schizophrenia and bipolar disorder, potentially leading to new treatment options.
A team of researchers has found that common genetic variants contribute to the risk of schizophrenia and bipolar disorder, with many variations found in both diseases. The study identifies six new molecular evidence links with these diseases and suggests disruption of development processes as a factor in mental disorders.
A large international study of over 50,000 adults has identified 11 common genetic variations associated with an increased risk of schizophrenia and bipolar disorder. The study found that many of these variants contribute to both diseases, providing new molecular evidence for the causes of these chronic brain disorders.
Researchers identified 29 DNA sequence variations linked to blood pressure, suggesting a complex genetic regulatory mechanism. The study pooled data from over 200,000 people worldwide and found common genetic variants in individuals of Asian and African ancestry.
An international study identifies 28 new gene regions associated with blood pressure, including a previously unknown physiologic pathway involved in blood pressure control. The findings suggest potential targets for new hypertension drugs and may lead to improved treatment options for cardiovascular complications.
Two new genetic variants, rs4129267 and rs7130588, linked to increased asthma risk have been discovered. These variants may lead to the development of a new treatment for asthma using drugs currently used to treat rheumatoid arthritis.
Researchers identified 37 previously unknown genetic risk loci associated with complex common diseases and elucidated their effect on human metabolism. The study provides a comprehensive evaluation of genetic variance in human metabolism, combining genome-wide association studies and metabolomics.
The study reveals 37 new variants associated with common diseases, including chronic kidney disease, type 2 diabetes, and blood clotting. The researchers also identified a possible mechanism to detoxify substances, which could affect the risk of developing kidney disease.
A study published in Nature Genetics identified six new genetic variants associated with type 2 diabetes in South Asians. The research found that people of South Asian ancestry are up to four times more likely to develop the disease, affecting around 55 million worldwide.
A new gene, MCF2L, associated with osteoarthritis has been identified through a genome-wide association scan using the 1000 Genomes Project data. The variant is found on chromosome 13 and regulates nerve growth factor (NGF), suggesting that MCF2L plays a role in the development of osteoarthritis.
Researchers at Mount Sinai School of Medicine will identify genetic markers for each patient enrolled in the study, inputting them into electronic medical records for tailored treatment. The study aims to improve management of heart disease risk factors and prevent onset.
A defective gene can contribute to the onset of rheumatoid arthritis by disrupting inflammatory responses, and a new mouse model reveals this connection. Researchers identified A20 as a key player in controlling inflammation, suggesting it may be a target for developing new treatments.
Scientists at the Allen Institute have identified complex cellular patterns in brain development, suggesting multiple mechanisms beyond Reelin involved in proper neuron migration. The findings have major implications for understanding brain disorders like autism.
A new national collaboration of asthma genetics researchers has identified a novel gene association specific to populations of African descent, including the previously unreported PYHIN1 gene. The study also replicated four other gene associations with asthma risk, offering promising insights into the genetic roots of the disease.
Researchers identified three new susceptibility loci for adult asthma in the Japanese population through a genome-wide study of 4836 individuals. The findings provide insights into the genetic factors contributing to asthma and may lead to more effective treatment techniques.
Researchers will create the largest library of sickle cell disease-specific iPS cell lines to study the disease's genetic context and develop new therapies. The goal is to understand how specific genes behave in different tissues and clarify the mechanisms by which a gene associated with a disease affects tissue biology.
Researchers at BGI developed a novel pipeline to detect structural variations (SVs) in whole genome assembly, identifying 277,243 SVs with high accuracy and precision. The study demonstrates the potential of de novo assembly for creating comprehensive SV maps.
Researchers found two genetic variations linked to increased risk of second cancers in childhood Hodgkin's lymphoma patients treated with radiation. These markers appear to decrease activation of the PRDM1 gene, which can protect against cancer when exposed to radiation.
A comprehensive whole sequence variation map of rhesus macaque has been published, providing a valuable resource for evolutionary and biomedical research. The study identified 5.5 million SNPs and 125,150 structural variations, including annotated nonsynonymous SNPs related to human disease and drug-target genes.
Scientists at Buck Institute discover that inhibiting an mRNA translation factor increases stress response genes and extends lifespan in C. elegans. The study highlights the importance of mRNA translation in aging and may lead to the development of therapeutics to slow age-related diseases.
A genome-wide study identified a genetic variant associated with liver cancer development in chronic hepatitis C virus carriers. The DEPDC5 SNP was found to roughly double the odds of developing HCC among Japanese individuals with chronic HCV infection.
A genome-wide association study has identified a novel genetic variation in the BAZ2B gene linked to an increased risk of sudden cardiac arrest. This variation may predispose individuals to double their risk of having a sudden cardiac arrest, a disorder that is fatal in about 95% of cases.
Large-scale genome-wide association studies have identified 15 gene variants associated with white blood cell count diversity among whites, African-Americans, and Japanese. These findings could lead to new clinical advances, including earlier disease risk assessments and potential gene therapies.
Researchers developed a new strategy to improve the outcome of genome-wide association studies by linking initial association signals to functional DNA changes. The framework streamlined discovery of functional DNA variants underlying GWA signals, benefiting scientists worldwide.
Researchers at Boston University have found four new genetic variants associated with a higher risk of systemic lupus erythematosus (lupus) in African American women. The study, based on data from the Black Women's Health Study, reveals that these genetic factors may be shared among women of different genetic ancestries.
The study discovered two novel genetic associations with Parkinson's disease, one near the SCARB2 gene and another near SREBF1 and RAI1 genes. The research also replicated twenty previously known genetic associations, providing strong evidence for the web-based design used in this study.
Researchers have identified three new genes associated with the risk of progressive supranuclear palsy (PSP), a rare neurodegenerative disease. The study found that genetic variations in EIF2AK3, STX6, and MOBP contribute to PSP risk, while also shedding light on the underlying cause of the disease.
A genome-wide association study found three SNPs associated with PSP, suggesting they may contribute to disease susceptibility. These genes are involved in tau protein regulation and membrane recycling.
23andMe has built one of the world's largest databases with over 100,000 individuals' genetic data, facilitating rapid recruitment for genome-wide association studies. The company's novel research approach has led to new genetic associations for common traits and rare diseases.
Researchers identified FYCO1 as a key gene in the development of autosomal-recessive CCs. The study found that FYCO1 mutations lead to abnormal protein accumulation, disrupting lens transparency.
Researchers have expanded on existing knowledge of Alzheimer's disease by identifying a novel location within the MS4A gene cluster associated with the condition. The study suggests that the immune system plays a key role in its progression, with several genes implicated in allergies and autoimmune diseases.
A team of researchers has pinpointed genome regions that contribute to the debilitating lung disease associated with cystic fibrosis, providing insight into its causes and potential diagnostic markers. The study also points to new therapeutic approaches for related diseases such as COPD.
Researchers at Washington University and King's College London have independently identified a DNA region on chromosome 3 associated with depression. The region contains up to 90 genes and shows genome-wide significance, suggesting that many genes may be involved in depression.
A new genomics study has identified genetic patterns in children with CVID, a complex and unpredictable immune disorder. The researchers have developed a predictive algorithm that can distinguish CVID from healthy controls with 99% accuracy.
A new study identifies SLC6A15 as a novel susceptibility gene for major depression, which may lead to the discovery of novel antidepressant drugs. The researchers found that lower expression of SLC6A15 in the hippocampus is linked to increased stress susceptibility and altered neuronal circuits.
The ENCODE project has released a comprehensive guide to its DNA elements database, providing a framework for understanding the human genome's function. The dataset enables scientists to associate single nucleotides with diseases and identify new paths for studying noncoding variants.
A study published in the Proceedings of the National Academy of Sciences has identified a novel gene, AUTS2, associated with differences in alcohol consumption. The research team analyzed data from over 48,000 individuals and found that this gene contributes to individual variations in drinking patterns.
Studies reveal Tet protein maintains pluripotency in stem cells by silencing differentiation genes while activating pluripotency genes. The protein's product, 5-hydroxymethylcytosine, plays a crucial role in regulating transcription and is the first genome-wide location of its role in development and disease.
Researchers mapped chromatin marks in nine cell types and linked non-coding SNPs to regulatory networks. This study provides insights into the functions of non-coding regions associated with human disease.
Researchers have identified 15 new genetic regions associated with an increased risk of developing primary biliary cirrhosis. The study used genome data from 2,500 patients and 7,500 healthy individuals, tripling the number of known genetic regions to 22.
Researchers identified a single genetic mutation in the CUBN gene linked to albuminuria, a condition indicating kidney disease, in both diabetic and non-diabetic individuals. The study's findings have significant implications for understanding the mechanisms behind kidney disease and potentially leading to novel treatment targets.
Researchers discovered 13 novel genetic variants linked to coronary artery disease, including seven related to LDL cholesterol and hypertension. The findings shed light on previously unknown mechanisms increasing heart disease risk.
A massive study has identified 13 new genes linked to coronary artery disease, with most operating through unknown mechanisms. The discovery opens up new avenues for therapies and highlights the complexities of heart disease.
A large-scale international study has identified 13 new gene regions that predispose people to heart attacks, doubling the number of known genetic factors. The study's findings suggest that genetic profiling may become a routine part of clinical care in the near future.
A new study reveals a previously unrecognized susceptibility factor for bipolar disorder, with genetic variation in the neurocan (NCAN) gene associated with an increased risk. The findings suggest that NCAN variants may disturb neuronal processes in patients with bipolar disorder, leading to cognitive deficits.
UK child psychiatrist Sir Michael Rutter reviews the latest scientific developments in autism research, covering clinical features, genetics, environmental factors, and psychological treatments. Despite substantial gains in knowledge, prevention and cure remain major puzzles in autism research.
Researchers found a rare genetic glitch in patients with schizophrenia that could lead to improved treatments. The VIPR2 gene mutation was linked to overactive VIP activity, which can impact brain development and learning, offering potential targets for new therapies.