Articles tagged with Genome Wide Association Studies
A study by Mount Sinai researchers has identified several pathophysiological mechanisms underlying perianal fistulae in Crohn’s disease. The findings highlight key transcription factor binding events and epigenetic phenomena that contribute to the higher rates of complications in African American patients. The research provides avenues...
A new study has identified a deficit in the placental expression of IGFBP1 and low circulating levels as associated with insulin resistance during pregnancy. The findings suggest that measuring IGFBP1 levels could help identify people at risk of developing gestational diabetes early in pregnancy.
Researchers have identified new genetic variants linked to susceptibility of cervical cancer-causing virus, raising the risk of getting cervical cancer from high-risk HPV infection. The study found polygenic risk scores to determine likelihood of having prevalent or persistent HPV infections.
A new study from the Keck School of Medicine of USC found that genome-wide association studies' imputation technique works better for European, African American, and Latino groups than others. The researchers evaluated over 100 global populations, finding that imputation is less reliable for those farther away from Europe.
Scientists discovered that tiny brain bubbles called small extracellular vesicles carry more complete instructions for altering cellular function than previously thought. Researchers found nearly 80% of identified mRNAs were full-length, allowing them to be transcribed by recipient cells into viable proteins.
Researchers developed a single-assay approach using exome sequencing data to detect large-scale pathogenic mutations, detecting 91 previously undetectable mutations. This shift could enable earlier diagnoses and save the NHS vital resources.
A new study has identified 17 significant genetic variants linked to Alzheimer's disease in five genomic regions. The findings highlight the value of whole genome sequencing data in gaining long-sought insight into the ultimate causes and risk factors for Alzheimer's, which is the fifth leading cause of death among people 65 and older.
Researchers developed chronological age prediction models by analyzing gene expression changes in the prefrontal cortex, identifying genes associated with aging and potential mechanisms. The models showed high correlation with age and demonstrated female and male-specific differences.
Researchers linked red/processed meat consumption to increased colorectal cancer risk, highlighting two genetic markers (HAS2 and SMAD7) that alter cancer risk levels based on meat intake. The study analyzed data from nearly 70,000 people and found a 30-40% increased risk for those with high red or processed meat intake.
This study introduces a computational model that uncovers the genetic architecture of tree growth in Populus euphratica, focusing on above- and below-ground traits. The model successfully delineates genetic contributions and network topology driving phenotypic formation, highlighting distinct time-varying growth characteristics.
A new perspective article suggests that integrating environmental effects into genetic research is crucial to understand the intricate nature of gene-environment interactions. The authors propose expanding genome-wide association studies by incorporating environmental data, which could help mitigate deterministic thinking in genetics.
A large, diverse genetic study identified novel genetic locations associated with primary open-angle glaucoma (POAG), a leading cause of irreversible blindness globally. The study implicated vascular and cancer-related genes in POAG risk, with 20% of associated genes related to primary cilia.
A study has identified 1,289 genetic markers associated with Type 2 diabetes, including 145 newly discovered markers. The research provides risk scores for diabetes complications and suggests potential genetic targets for new treatments.
A study published in Nature Communications has identified key genes, biological processes, and cell types that may contribute to the development of primary open-angle glaucoma. The research highlights potential mechanisms involving gene expression, cellular regulation, and vascular development.
A team of scientists has identified two key human genetic factors that contribute to severe Lassa fever. The study, which involved 16 years of collaborative effort, found a set of LARGE1 variants linked to reduced Lassa fever risk and could lay the foundation for better treatments.
A new statistical model developed by UChicago researchers accurately identifies causal genes and variants for a disease. The tool reduces false positives and takes into account multiple genes and variants, leading to the discovery of 35 putative causal genes for LDL cholesterol levels.
A global study has identified over 200 genes linked to depression, including 50 new genetic loci and 205 novel genes. The research also suggests potential for drug repurposing and highlights the need for more diverse genetic datasets to develop effective treatments.
A new study has identified three genes, MANBA, TNFRSF13B, and EEF1A1, as crucial in the regulation of IgG galactosylation, a trait associated with ageing. The research used GWAS to analyze IgG glycosylation phenotypes in a large sample size, increasing the understanding of this complex posttranslational modification.
The December issues of The American Journal of Psychiatry and Psychiatric Services explore postpartum depression, responses to stress in adulthood, and adversity in children. APA highlights increased rates of suicide among Black women, shedding light on childhood resilience and genetics.
Researchers discuss a new approach integrating genomic, epigenomic, transcriptomic, and machine learning methods to identify functional genetic variants and characterize their mode of action in regulating target genes. This method aims to improve understanding of disease etiology and prioritize causative inherited genetic variants.
Researchers at University of Pittsburgh and KU Leuven identified 30 genetic regions associated with head shape, shedding light on the biological basis of craniosynostosis. The study also found that many genes play key roles in early head formation and bone development.
Researchers characterized changes in cognitive behaviors, neuronal morphology and gene expression in a tauopathy mouse model. The study found significant decreases in dendritic arborization and synaptic gene upregulation over time.
A large-scale genomic study confirms the heritability of postpartum depression, suggesting a significant genetic component. The research also reveals that the only FDA-approved treatment for PPD, brexanolone, likely acts on GABAergic neurons in specific brain regions.
Researchers created the world's largest primate brain-wide atlas using single-cell technologies, revealing over 4 million cellular profiles. The study provides a comprehensive multimodal molecular atlas to explore links between molecules, cells, brain function and disease.
Research reveals that faster placental growth increases the risk of preeclampsia and shorter pregnancy duration. Genetic variations affecting placental size also influence baby weight and mother's health.
A new study has identified two main pathways involved in Alzheimer's disease, with one acting through amyloid and tau proteins and the other based on immune system reactions. The research also found that certain genes have opposite effects in men and women, suggesting a need for further investigation.
A genome-wide association study reveals 34 genes potentially involved in choosing a vegetarian diet, including those related to lipid metabolism and brain function. The findings suggest that genetics play a role in the ability to subsist on a vegetarian diet.
A new study found three genes strongly linked to vegetarianism, including those involved in lipid metabolism and brain function. The study suggests that genetics play a role in determining whether someone can stick to a strict vegetarian diet.
Australian researchers analyzed over 1,300 Golden staph strains, linking specific genes to antibiotic resistance and the bacteria's ability to linger in the bloodstream. The study highlights the diagnostic power of integrating clinical and genomic data to develop targeted solutions for deadly superbug infections.
A recent study published in Molecular Ecology found widespread hybridization between two species of sea stars along the North Atlantic coast. The researchers used genomic data to analyze the genetic differences between the species and found that hybrids were thriving in areas with temperatures tolerable by both species.
A study published in Nature has identified 51 significant genome-wide loci associated with COVID-19 severity and SARS-CoV-2 susceptibility. The research adds 28 new loci to the list, providing valuable information about three key biological pathways involved in determining disease outcomes.
A massive genetic study has identified specific DNA changes that increase the risk of developing epilepsy. The research found 26 distinct areas in our DNA involved in epilepsy and proposed alternative drugs targeting these genes. The findings may inform better diagnosis, classification, and treatment strategies for epilepsy.
A computational genetic model has been developed to predict individual genetic risk of developing breast cancer based on a woman's genetic profile. The model uses data from a large-scale international study and identifies women at high risk, who may benefit from earlier and more frequent screening.
A new study has identified four genetic variants associated with the direction of human scalp hair whorls, revealing a polygenic inheritance pattern. The findings may help unravel biological processes related to abnormal neurological development.
The GEMINI blood test uses machine learning to identify cancer-causing mutations in single molecules of cell-free DNA. The test detected over 90% of lung cancers, including stage I and II cases, in a proof-of-concept study published in Nature Genetics.
Researchers found a novel region in the genome associated with spontaneous control of HIV in populations of African ancestries. CHD1L, a protein involved in DNA repair, shows genetic variation specific to these populations and limits HIV replication in white blood cells.
The study identified two genes, SOX9 and KLF5, that contribute to the development of hidradenitis suppurativa. These genes play a role in hair follicle and epidermal development, respectively, and their mutations may lead to improper development of hair follicles and inflammation.
A groundbreaking Oxford study reveals a significant genetic component to people's probability of participating in genetic studies. The research identified detectable 'footprints' in genetics data that can be exploited statistically to enhance research accuracy for both participants and non-participants alike.
A team of scientists at Harvard Medical School has identified six chemical cocktails that can restore cellular aging and rejuvenate human cells. The study builds upon the discovery of Yamanaka factors, which can convert adult cells into induced pluripotent stem cells, raising hopes for treating age-related diseases and injuries. The im...
Researchers discovered a genetic variant associated with faster disease progression in multiple sclerosis, linked to years of disability. The study provides new leads on addressing the nervous system component of MS and developing effective treatments.
A large international collaboration has identified a genetic variant associated with faster disease progression in multiple sclerosis, highlighting the need to focus on nervous system resilience and repair. The study found that individuals with two copies of the gene variant experience accelerated disability due to MS.
Researchers have identified a number of candidate genes that may drive the development of conditions like Type 2 Diabetes. The study found that proteins such as PCSK1, SUR1 and GLUT2 play a role in calcium ion dynamics and insulin secretion.
A study by Brigham and Women's Hospital found that higher levels of diglycerides and triglycerides are associated with an increased risk of primary open-angle glaucoma. The research suggests that these lipid metabolites play a role in the disease's pathogenesis, highlighting potential new targets for prevention or treatment.
Researchers have unlocked the large-scale genomic analysis of foxtail millet, an important cereal crop that has been grown for roughly 11,000 years. The study identified key genes and marker-panels for its evolution and improvement in different environments.
A study of over 55,000 people identified new genetic variants associated with insulin resistance after eating, which may help inform future treatments of type 2 diabetes. The discovery highlights the importance of understanding how glucose regulation works in the body, particularly in the fed state.
Researchers at The Hospital for Sick Children identified high densities of variants linked to blood pressure genes in the non-coding genome. The study uses massively parallel reporter assay technology to examine genetic variants and provides a functional map of regulators of blood pressure genes.
A recent study has uncovered three previously unreported genetic loci associated with eyebrow thickness in Europeans, as well as rediscovering two of the four genetic loci previously found in non-Europeans. The research expands genetic knowledge on human eyebrow variation, with implications for dermatology and other fields.
A study by Massachusetts General Hospital identified genetic variants associated with response to metformin and glipizide, which can help tailor treatment selection for population subgroups. The findings may lead to personalized strategies for diabetes prevention and care treatment.
Researchers identified mRNAs and long non-coding RNAs targeted by stress granule proteins, which accumulate AD-associated gene transcripts in these structures. SGs may play a key role in regulating AD development through the impairment of protein neurohomeostasis.
A large genome-wide association study identified novel PSA-associated variants and developed a polygenic score to correct for genetic variations in PSA levels. This approach improved biopsy referral decisions, reducing unnecessary procedures while detecting more aggressive tumors.
A new study explores the genetic mechanisms underlying honey bee colony defense and aggression, revealing that gene regulation influences collective behavior and division of labor. Researchers found that brain gene regulatory networks differ between soldiers and foragers, particularly in more aggressive colonies.
Researchers developed a computational approach to identify causal noncoding variants affecting blood cell trait changes. The study identified 69 mutations impacting transcription factor PU.1 binding, with 51 altering its site, suggesting a link between these variants and disease.
Alternative gene splicing has been linked to an increased risk of alcohol use disorder (AUD), according to a recent study published in Molecular Psychiatry. The researchers identified 27 exon skipping events that may contribute to AUD risk, opening up new possibilities for finding new therapeutics.
The study analyzed genome-wide data from 55 individuals to understand the genetic structure of Taiwan's Indigenous groups. The results suggest that highland groups, such as the Atayal, have a distinctive genetic profile indicating isolation for over 3,000 years.
A new computer-modeling system, scDesign3, has been developed to generate realistic synthetic data for analyzing genetic makeup of cells. The system can help researchers evaluate and validate computational methods for tasks such as gene expression analysis and cell trajectory modeling.
A new study using ancient DNA from northern and central Mexico reveals population continuity despite drastic environmental change, providing new insights into the region's demographic history. The research also identifies two 'ghost' populations contributing to pre-Hispanic populations, revealing a complex demographic landscape.
The UC Santa Cruz Genomics Institute will run the Data Coordination Center for the Scalable and Systematic Neurobiology of Psychiatric and Neurodevelopmental Disorder Risk Genes (SSPsyGene) Consortium. The team will coordinate an initial selection of 250 relevant genes from nearly 30,000 protein coding genes in the human genome.
A new approach, STING-seq, combines genetic association studies, gene editing, and single-cell sequencing to identify causal variants and genetic mechanisms for blood cell traits. This method can help scientists identify drug targets for diseases with a genetic basis.
Researchers at UCL have identified proteins in the blood associated with an increased risk of developing heart diseases, including heart failure. The findings could lead to more refined cancer treatments that minimize cardiotoxicity and improve survival rates.
A team of researchers conducted the largest proteomic study on yeast cells to gain a detailed picture of previously unknown gene functions. The study revealed general principles governing protein expression and identified thousands of proteins with their biophysical properties.