Articles tagged with Genetic Variation
Researchers used induced pluripotent stem cells to identify correlations between genetic variants and altered expression patterns in human cells. The study found thousands of disease-associated genetic variants linked to specific diseases, including coronary heart disease and hereditary cancers.
A new reference dataset reflects 64 assembled human genomes, capturing genetic differences across 25 populations from around the world. This comprehensive resource enables accurate study of genetic variants and their role in disease, paving the way for personalized medicine.
A new high-throughput biological assay technique has been developed to systematically analyze the impact of nearly 100,000 genetic variants on transcription factor binding to DNA. The study found that noncoding genetic variant rs7118999 can affect DNA binding with a transcription factor, regulating blood lipid levels in type 2 diabetes.
Approximately 4% of the population naturally lack the activation receptor NKG2C due to a genetic variation. This absence is associated with an increased risk of developing severe COVID-19, particularly in intensive care unit patients.
A new study by University of Arkansas psychologist Anastasia Makhanova found a correlation between the CD38 CC gene variation and higher levels of gratitude, trust, forgiveness, and increased marriage satisfaction. Individuals with the CC variation reported more positive perceptions beneficial to successful relationships.
A recent study has shed new light on the evolutionary history and genomic variation of tigers, revealing population bottlenecks and recent divergence between subspecies. The research highlights the importance of local adaptation and genetic rescue efforts in tiger conservation.
A large-scale study published in the BMJ found that genetic testing technology widely used by commercial companies is unreliable in detecting very rare variants. The study analyzed data from nearly 50,000 people and found that the technology produced false positive results for rare disease-causing genetic variants in over 80% of cases.
The study analyzed over 53,000 individuals from minority populations, providing new genetic insights into heart, lung, blood, and sleep disorders. The research aims to improve diagnosis, treatment, and prevention of common conditions leading to disability or death.
A new computational method has been developed to analyze genetic and environmental interactions influencing disease risk, including body mass index and diabetes. The study found that prioritizing a smaller number of genetic variants in the genome improves analysis efficiency.
A large-scale study has found specific genetic variants that increase the risk of nocturnal enuresis, commonly known as bedwetting. The study provides new insights into the processes causing this widespread phenomenon and highlights the importance of genetic factors in its development.
Researchers discovered hundreds of previously unknown genetic variations affecting small molecule concentrations in the blood, which can impact diseases such as diabetes and eye disorders. The findings provide valuable biomarkers for clinical diagnosis and therapy.
Researchers identified two novel genetic variants in the Siglec-10 protein that predispose individuals to polyneuropathy after gut infection. These variants impair the protein's ability to bind gangliosides, leading to autoantibody production and damage to neurons.
A new rhesus macaque reference genome has been established, identifying over 85 million genetic variants, the largest database of its kind. This will support detailed analyses of fundamental questions in molecular genetics and help find naturally occurring models of genetic disorders.
A UCLA study published in Science found that desert tortoises with higher genetic variation had higher survival rates after relocation. The researchers analyzed blood samples from 79 surviving and 87 deceased tortoises and found that survivors averaged 23% greater heterozygosity than those that perished.
Translocation of desert tortoises with high genomic variability leads to higher survival rates than those with lower genetic diversity. The study suggests that targeting individuals based on overall genetic diversity may improve conservation outcomes.
Researchers have sequenced multiple wheat and barley genomes, revealing hidden genetic variation that can be used to breed more productive and resilient crop varieties. The project aims to increase global wheat production by over 50% by 2050 to meet future food demands.
Researchers found genetic variation related to placental biology is partly responsible for miscarriage etiopathogenesis. Miscarriage has been linked to health outcomes such as asthma, depression, and irritable bowel syndrome.
Researchers used genetic evidence to explain how different species of capuchino seedeaters acquired distinct patterns of coloration. Soft selective sweeps were found to be the primary cause of these differences, driven by changes in environment and sexual selection.
Researchers are harnessing the genetic potential of old crop varieties, known as landraces, to develop improved climate-adapted hybrid varieties. By analyzing gene variations, they have identified traits such as early plant development, wind resistance, and growth form that can be beneficial in breeding climate-resilient crops.
A recent study published in Gastroenterology identified rare and common genetic variants that significantly increase the risk of developing life-threatening blood clots in IBD patients. The research suggests that genomic medicine could help lower this threat, enabling physicians to provide more precise care.
A study published in PLOS Biology found that genetic variants of the ROBO1 gene in young children are associated with grey matter volume in the right parietal cortex, predicting mathematical test scores. The research suggests that genetic variability may shape mathematical ability by influencing early brain development.
A study of genetic variation across populations has found no significant impact on SARS-CoV-2 viral entry and severity. Preexisting medical conditions, individual histories, and environmental factors are more likely contributors to morbidity and mortality.
Research shows that maintaining good cardiovascular health can significantly reduce the risk of developing type 2 diabetes in middle-aged individuals, regardless of their genetic susceptibility. The study found that individuals with ideal CVH had a lower lifetime risk of T2D compared to those with poor or intermediate CVH.
A genetic variation has been identified that may increase the risk of cognitive decline in some individuals, even those without amyloid plaques or tau tangles. The variation affects glutathione metabolism and is associated with thinning of the brain cortex.
The GTEx project has mapped genetic variations that affect gene expression across over four dozen tissues, revealing the importance of cell type in understanding gene regulation. The study cataloged QTLs governing the expression of over 23,000 genes, highlighting the complexity underlying genetic control of gene expression.
Researchers at Johns Hopkins University have developed a computational system called Watershed to predict the functions of rare genetic variants in individual genomes. This breakthrough could lead to the identification of genetic causes for previously undiagnosed disorders and health issues, with implications for public health.
The GTEx resource provides an important tool to address the relationship between genetic variants and gene regulation, with analysis discovering eQTLs and sQTLs for the vast majority of genes. The study details mechanisms of how genetic effects from coding and non-coding regions affect gene expression and splicing regulation.
Two large-scale genetic studies identified over 7,000 regions of the human genome influencing blood cell characteristics. These findings bring us closer to using genetic scoring in clinics to predict personal risk of developing blood disorders.
A common inherited genetic variant has been identified as a frequent cause of deafness in adults. The RIPOR2 genetic variant is found in thousands of people at risk of developing hearing loss, making it an ideal target for gene therapy. Researchers estimate that up to 30,000 individuals in northern Europe may be affected.
Scientists from Hackensack Meridian Health have discovered specific locations in the DNA where expression changes are imbalanced, indicating risks of cancer and other diseases. This finding provides a key to understanding the beginnings of both cancers and non-cancerous diseases.
A massive genomic analysis has found hundreds of new genetic variants associated with type-2 diabetes, as well as those tied to related conditions like coronary heart disease and chronic kidney disease. The discovery may lead to personalized treatments for patients at high risk of developing the disease.
Researchers sequenced and compared the genomes of 100 different tomato varieties, identifying over 230,000 structural variants that underpin the vast diversity among tomatoes. These genomic variations affect flavor, yield, and other traits, providing breeders with new power to improve tomato properties.
Scientists used genomic analysis to assess genetic variability in 17 seal species, finding that past population fluctuations have had a significant effect on contemporary populations. The study estimates the risk of genetic impoverishment and inbreeding, with implications for conservation efforts.
A recent study analyzing data from over three million individuals found widespread sex-differential participation bias, suggesting that men and women are more likely to participate in genetic studies based on different characteristics. This bias can impact the accuracy of results and conclusions drawn from genetic association studies.
The gnomAD Consortium has published its first major studies of human genetic variation, revealing new insights into rare types of genetic variation. The research provides better tools for clinical geneticists to diagnose patients with rare genetic diseases and evaluate proposed drug targets.
A new genomic analysis reveals a decrease in genetic variants associated with ADHD across the human evolutionary lineage. The study suggests that favourable selection may have occurred in ancestral environments, leading to the high prevalence of ADHD in modern populations.
A study published in BMC Biology suggests that northern and southern Italian populations diverged genetically as early as 19,000-12,000 years ago. The research found distinct genetic variants between individuals from different regions, with adaptations to climate-specific genes.
A recent study has identified the complement component 4 (C4) gene as a key factor in understanding sex biases in autoimmune disorders and schizophrenia. Individuals with more C4 genes were found to be less likely to develop autoimmune conditions but more likely to develop schizophrenia.
A large-scale genome-wide study has identified 301 distinct genetic signals associated with type 2 diabetes in East Asians. The research highlights the importance of studying different ancestries and expands the number of genetic variants linked to the disease, providing new insights into its pathophysiology.
A study identified a rare genetic variant in the ANGPTL7 gene that lowers intraocular pressure and significantly reduces the risk of glaucoma. The findings open up new therapeutic possibilities for treating this eye disease.
The use of genomic data is crucial in combating extinction, as 44.3% of species are currently in decline. Conservation genomics can help identify bad mutations that can weaken populations and inform breeding strategies.
A new subtype of myelodysplastic syndromes (MDS) has been proposed based on the presence of a genetic mutation, known as SF3B1. This subtype is characterized by ineffective production of red blood cells and may benefit from treatment with luspatercept.
Researchers at Children's Hospital of Philadelphia have identified a genetic variation responsible for driving IBD development. The study found that the rs1887428 SNP alters gene expression in the JAK2 pathway, which is also targeted by immunotherapies.
A new study suggests that rare, damaging inherited mutations can have a significant impact on an individual's healthspan and longevity. Researchers found that people with more ultra-rare protein-truncating variants (PTVs) had shorter lifespans and healthspans, with each additional variant accounting for a six-month reduction in lifespa...
Researchers discovered genetic variants linked to vitamin D concentration and found that certain genes influence the body's ability to make vitamin D in response to sunlight. These findings provide new insights into how our bodies handle vitamin D and may help explain why low levels are associated with poor health.
A global collaboration has identified over 300 genetic variants influencing cerebral cortex structure and its relationship with psychiatric disorders. The study provides a genetic roadmap for understanding how genes impact brain structure and neurological consequences.
Researchers at Baylor College of Medicine have identified a genetic signature combining certain maternal and fetal gene variants that are associated with a higher risk of preeclampsia. This genetic signature could be used to identify women at risk and prepare in advance to manage their condition.
A systematic review of 149 studies has identified 24 genetic variants that increase the risk of endometrial cancer by up to 3.16 times. The study provides a polygenic risk score for personalized risk assessment, facilitating targeted screening and prevention strategies.
A DNA study of over 10,000 people has identified naturally occurring gene variants that reduce the risk of Alzheimer's disease by impairing tyrosine phosphatase activity and cell survival. The findings suggest PI3K/Akt/GSK-3β signalling pathway as a key target for therapeutic drugs.
Researchers mapped 102 new autism genes in a major international study, revealing new insights into the disorder's biology. The findings could lead to earlier diagnoses and more precise treatments for individuals with autism.
A major international study has identified over 350 DNA 'errors' that increase breast cancer risk, providing the most detailed picture yet of how differences in our DNA put some women at greater risk. The researchers found that 191 genes are likely target genes for these variants.
A Yale University study has identified six genetic variants linked to anxiety in approximately 200,000 military veterans. The research provides the first convincing molecular explanation for the coexistence of anxiety and depression, suggesting shared genetic risks.
A new study by University of Chicago biologists found that Mediterranean mussels with existing genetic variation can adapt to declining pH levels in seawater caused by carbon emissions. The surviving population in the low pH environment differed genetically from others, suggesting a faster adaptation process if no new mutation arises.
SHAPEIT4 is a powerful computer tool that allows researchers to quickly identify haplotypes in hundreds of thousands of unrelated individuals. This enables the analysis of complex traits and disease risk with unprecedented accuracy.
A new Texas A&M University study reveals the Cleveland Bay horse breed has the third-lowest genetic variation level among domestic horses. This low genetic diversity puts the breed at risk for various health conditions, making it critically endangered.
A new study has identified a genetic variation that significantly increases the risk of heart failure in African and Latino Americans. The transthyretin or TTR V122I genetic variant was associated with an increased risk of heart failure, with patients being two-fold more likely to have the condition.
A new study has identified a genetic variation in the Mucin 6 gene that may contribute to late-onset Alzheimer disease. The findings suggest a strong association between the genetic variant and the disease, implying a large effect size and opening up possibilities for future therapeutic targets.
A study by Uppsala University researchers found a genetic tug-of-war between males and females that maintains genetic variation. This conflict leads to different gene variants being favored in each sex, contributing to the balance of genetic diversity.
Researchers identified genetic variations in non-coding enhancer regions of specific brain cell types, such as microglia, which may play a role in disease risk. The study provides new insights into how genes are regulated in individual cell types and has significant implications for understanding neurological conditions.
A Penn Medicine study reveals a strong link between genetic variants associated with height and the risk of atrial fibrillation. Taller individuals are at an increased risk, with every one-inch increase in height translating to a three percent increase in risk.