Articles tagged with Genetic Variation
A new report recommends that Congress authorize the development of nationally scaled genomic data systems for patient safety, public health, and scientific advancement. The authors argue that existing regulatory resources are insufficient to assure patients of maximal benefits from genomic testing.
ClinGen, a comprehensive program, aims to evaluate the clinical relevance of genetic variants for precision medicine. The database will facilitate data sharing among laboratories and clinicians, improving understanding of genetic variation's role in human health and disease.
A large-scale meta-analysis discovered 10 new genes that tune cholesterol levels in individuals. The study, led by researchers at the University of Helsinki, analyzed DNA data from over 60,000 people and identified genetic variants associated with cholesterol levels.
The GTEx project analyzed over 54,000 genes across 43 body sites from 175 individuals to identify distinct regions in the genome that affect gene expression. This work sheds light on how genetic variation predisposes people to disease and provides a resource for future studies investigating genetic control of gene expression.
Researchers found moderate genetic variation in five sloth bear populations and two genetic clusters, suggesting habitat corridors play a crucial role in maintaining gene flow. The study highlights the importance of protecting threatened habitats connecting isolated sloth bear populations.
The honeybee queen uses polyandry to mate with multiple drones and recombination to maintain genetic variation. High recombination rates help the colony adapt to environmental changes.
Researchers create robust platform to investigate hundreds of mutations in a single experiment, allowing for the mapping of gene expression networks and understanding how genetic variations contribute to human diseases. The tool helps identify disruptions in gene regulation, leading to disease.
Researchers analyzed genomic data from 16,000 individuals to understand the impact of mutations in two genes associated with a blood disorder. They found that about 1.3% carry a mutation in at least one gene, and algorithms predicted varying levels of harm from these mutations.
A new study published in the New England Journal of Medicine found a direct link between shorter height and higher risk of coronary heart disease. The research, led by Professor Sir Nilesh Samani, used genetic data to show that every 2.5 inches change in height increased the risk by 13.5%.
Researchers have identified a new pathway guiding the development of the enteric nervous system, which is separate from the central nervous system. This pathway interacts with specific genes and proteins to cause Hirschsprung's disease, a rare condition that can be fatal if left untreated.
A Johns Hopkins-led team of researchers has identified a rare genetic cause of autism, which may also be linked to other complex genetic conditions. The study used a novel approach that focused on families severely affected by autism to pinpoint the CTNND2 gene as a potential culprit.
Researchers analyzed gene and epigenetic mark changes in a mouse model of Alzheimer's disease to understand the role of microglia and immune pathways in disease progression. They found conserved epigenomic signatures between mice and humans, suggesting a potential therapeutic target.
A worldwide study of 100,000 women has discovered two new genetic variants associated with an increased risk of breast cancer. The variants are specifically linked to the most common form of breast cancer, oestrogen receptor positive, providing important clues about its causes and potential leads for treatment discovery.
The study identified 35 genetic factors associated with motion sickness, including those affecting balance, eye, ear, and cranial development, as well as glucose homeostasis. The findings suggest a role for the nervous system in motion sickness and may provide insight into other nausea-related conditions.
Researchers identified five genetic variants influencing brain structure size, particularly in regions associated with memory and movement. The study, the largest analysis of brain structure and genetics, aims to understand the causes of variation in human brain development and disease predisposition.
Research identifies strong genetic association between apolipoprotein L1 variants and FSGS in African Americans, highlighting the need for targeted therapies. Patients with these variants respond to immunosuppressant treatments but tend to progress more rapidly to kidney failure than others.
A study of Swedish teenagers found that three genetic variants interacted with environmental factors to increase the risk of delinquency, while a positive parent-child relationship decreased the risk. The research suggests that genes affect brain function and behavior by altering sensitivity to negative or positive environments.
A genetic variant linked to heavy smoking is associated with lower BMI in current smokers but higher BMI in people who have never smoked. This difference suggests the variant influences BMI via pathways other than smoking.
A University of Minnesota study found that natural genetic variation in a protective antiviral enzyme, APOBEC3H, can limit HIV-1 replication if the virus has weak Vif. This discovery opens doors to potential treatments by targeting Vif's ability to disable APOBEC3.
A genetically diverse mouse model has been developed to predict human responses to chemical exposures. The Diversity Outbred mice show a range of susceptibility to benzene exposure, similar to humans, and can help identify genetic factors involved.
Researchers at UNC Chapel Hill have developed a genetic strain of mice that accurately reflect human Ebola symptoms. The new mouse model enables rapid development of potential vaccines and treatments, addressing the global public health crisis caused by Ebola.
A new study pinpoints the complex genetic origins of multiple autoimmune diseases, including type 1 diabetes and MS. The researchers discovered that specific DNA variations, even outside genes, can alter immune system functions. Epigenetic characteristics of immune cells were also found to play a crucial role in disease development.
A large analysis of over 40,000 individuals has identified two new genetic variants that influence how 'bad' cholesterol levels respond to statin therapy. The study found that these genetic variants collectively account for about 5% of the variation in inter-individual response to statins.
Professor Matthew Stephens at the University of Chicago has received a $1.5 million Moore Foundation grant to develop and apply statistical methods for integrating diverse types of biological data. His work aims to improve our understanding of genetic regulation within living cells.
The study found that Native American ancestry is associated with a lower asthma risk, while African ancestry is linked to a higher risk in Latino children. Lung function on average was also lower among children with greater African ancestry, even without asthma.
A study published in Nature Genetics has identified a fifth of the genetic factors that cause height to vary between individuals, doubling the number of known genome regions involved in height to more than 400. The research found that simple common genetic variation explains more than half of the factors involved in determining height.
A new study reveals that genetic variations in taste receptors influence intensity perceptions of alcohol-related sensations. Researchers found that individuals with different versions of bitter and burn receptor genes experience varying levels of bitterness and burning sensations when consuming alcohol.
A study published in Alcoholism: Clinical and Experimental Research found that people's perception of alcohol taste varies due to genetic differences in bitter taste receptors. These differences can influence drinking habits, with some individuals experiencing more bitterness and lower liking for alcoholic beverages.
A global team of scientists has found 23 new genetic variants associated with an increased risk of prostate cancer. The study, which analyzed data from over 87,000 men, suggests that these variants may be important in regulating genes rather than making proteins.
A new study by University of California, Berkeley scientists found that human facial traits are more variable than other bodily traits and show higher levels of genetic variation. This is consistent with the idea that evolution has favored uniqueness in facial features to enhance recognition and social interaction.
A rare genetic variant in the APOC3 gene has been identified as a significant contributor to reduced triglyceride levels, associated with lower risk of cardiovascular disease. The study analyzed data from 4,000 healthy individuals and found that approximately 0.2% of the population carries this variant.
New research reveals schizophrenia to be a group of eight genetically distinct disorders, each with its own set of symptoms. The study analyzed genetic influences on over 4,000 people with schizophrenia and identified distinct gene clusters that contribute to the condition.
A recent study using stem cells found that a rare genetic variation, known as DISC1, reduces synapse growth in young brain cells, contributing to schizophrenia and depression. The researchers also discovered that the variation regulates the activity of over 100 genes related to synapses.
A University of Utah-led study identifies a genetic variation in Tibetans that contributes to their adaptation to high altitudes. The EGLN1 gene change protects Tibetans from complications caused by low oxygen levels, allowing them to thrive in thin air.
Two rare variants in the AKAP9 gene are associated with an increased risk of Alzheimer's disease in African Americans. Carriers of these variants have a 2.8-3.6 times greater risk of developing AD.
A genetic variant in the HMG CoA reductase gene has been identified as a significant protector against common Alzheimer's disease, delaying its onset by up to 4 years. This breakthrough discovery opens up new possibilities for treatment and pharmaceutical interventions.
Researchers at Case Western Reserve University will analyze genetic data from 11,000 individuals to identify rare variants that may protect or contribute to Alzheimer's risk. The goal is to illuminate the genetic architecture of Alzheimer's and discover therapeutic targets.
A Boston University School of Medicine study found that women who had their last child after age 33 had twice the odds of living to 95 years or older compared to those who had their last child before age 29. This suggests that women may be driving the evolution of genetic variants that slow aging and increase longevity.
A study found that genetic variations common in African Americans increase risk of bleeding and death, while Caucasians with a different variant are at higher risk of repeat heart attacks and death. These variations affect the way people metabolize clopidogrel, a blood-thinning drug commonly prescribed after a heart attack.
A study has found that copy number variants (CNVs) are a common event contributing to various conditions, including blindness, deafness, and metabolic disorders. CNV screening can aid in diagnosis, clinical management, and prognosis, providing valuable information for reproductive counselling.
Researchers found a genetic variant in noncoding DNA that leads to protein overproduction in heart cells, increasing the risk of sudden cardiac death by 40%. The discovery could lead to new drug treatments and improve understanding of cardiac repolarization.
Researchers have created an atlas of genetic associations with human metabolism, identifying 90 new genetic variants linked to metabolites. The study provides a powerful tool for understanding the molecular pathways underlying complex diseases and improving drug discovery for metabolic disorders.
A USGS study identifies four genetically distinct populations of diamondback terrapins, shedding light on the species' conservation needs. The research aims to develop targeted conservation plans, including habitat protection and migration corridors, to maintain genetic diversity and support the terrapin's overall population numbers.
Researchers found that individual variations in the genetic code can collectively produce significant changes in an organism's physical characteristics, depending on other variants. This study may help explain the 'missing heritability' problem, where additive genetic variants do not entirely explain many inherited diseases and traits.
Researchers discovered genetic variation influencing immune cell function is linked to increased risk of neurodegenerative diseases like Alzheimer's. The study found a striking enrichment of functional effects in monocytes for these variants, highlighting the potential role of immune system cells in human disease pathology.
A new study identifies how a genetic variant in the SPG7 gene contributes to cardiovascular health by promoting chronic inflammation and cell division. The researchers found that the variant can activate itself in certain circumstances, leading to increased production of free radicals and more rapid cell division.
The proposed guidelines focus on study design, gene-variant implication, and database implications, emphasizing the need for detailed statistical analysis and evidence-based claims. Researchers highlight the importance of sharing genetic and clinical data to accelerate research and infrastructure development.
A genetic variant found in one in three people increases the risk of colorectal cancer when consuming processed meat. The study, involving 18,000 participants, suggests that targeted prevention strategies may be possible based on genomic profiles.
A study by University of Chicago scientists found that genetic variants associated with enjoying the effects of amphetamine also reduce the risk for developing schizophrenia and ADHD. This suggests a complex role for dopamine in these diseases.
A new study identified genetic variants associated with increased risk of bladder cancer recurrence. Inheriting certain DNA sequences may affect a patient's prognosis, allowing physicians to tailor surveillance and treatment plans.
Researchers have developed a new tool that combines genetic and epigenetic data to identify the underlying causes of complex diseases. By analyzing overlapping patterns, scientists can pinpoint specific genetic variants linked to conditions such as cancer and metabolic disorders.
A study of whole-genome sequencing (WGS) found it can aid clinical diagnosis and reveal genetic bases of rare diseases, but also raises questions about reproducibility and reportable findings. Comprehensive interpretation and reporting of clinically significant findings are seldom performed.
A new study found that some common genetic variants may be indicators of rare mutations with greater influence on disease risk in prostate cancer. The research identified four common genetic variants associated with a small increase in risk, but also discovered an alternative explanation - a small proportion of men with these variants ...
Researchers analyzed genetic variation in the X chromosome to understand individual differences in traits such as height, BMI, and blood pressure. They identified a genetic variant near ITM2A that affects cartilage development and is more prevalent among shorter individuals, with stronger effects on women.
A new study has found that genetic regions associated with increased risk of type 2 diabetes were unlikely to have been beneficial to people at stages through human evolution. The researchers tested this theory by examining 65 genetic regions and found no evidence to support the thrifty gene hypothesis.
Researchers identified two genetic variations in the MAPT gene associated with sporadic amyotrophic lateral sclerosis (ALS) in the Chinese Han population. Patients with these variations were more prone to bulbar palsy and breathing difficulties than those with the wild-type genotype.
Researchers at the University of Melbourne have identified a genetic marker that signals increased susceptibility to emerging influenza strains. This breakthrough allows clinicians to develop early intervention strategies for high-risk patients.
A genetic trait linked to stress sensitivity is responsible for a 38% increased risk of heart attacks and deaths in patients with heart disease. Researchers identified a specific gene variation that causes an overactive stress response, leading to higher rates of cardiovascular disease and death.
Researchers at The Feinstein Institute for Medical Research have discovered a new genetic risk factor called NDST3 for schizophrenia and bipolar disorder. This genetic variant alters the expression of the gene, affecting neurodevelopmental processes, offering potential therapeutic targets for treatment.
Scientists have used genetics to analyze DNA and discover an influx of European genes into Caribbean populations after Columbus' arrival. The results demonstrate how deciphering genetic echoes can illuminate human history, highlighting differences in susceptibility to diseases among populations.