Articles tagged with Genetic Variation
A new gene, ANKRD55, has been discovered to play a significant role in the neuro-inflammation process of Multiple Sclerosis. The study found that genetic variants associated with MS increase the production of ANKRD55 transcripts in immune cells, suggesting a key gene involved in deregulation.
Two papers address challenges in interpreting clinical genome and exome sequencing results. The CSER Consortium has developed approaches for using sequencing to diagnose rare diseases, cancer, and other conditions. A new set of guidelines may help different labs interpret sequencing results consistently.
A large-scale genetic study identified 74 variants linked to educational attainment, which also influence cognitive function and personality traits. The findings suggest that genetic factors account for a small fraction of individual differences in education, with many genes playing a role in brain development.
Researchers at Cedars-Sinai Medical Center discovered that genetic variants can prevent 'good' gut bacteria from functioning properly, contributing to the development of Crohn's disease. This study provides new insight into the interaction between genes and microorganisms in promoting health and preventing inflammation.
Researchers identified two genes associated with twinning, including one linked to higher levels of FSH that may lead to multiple eggs being released at once. The findings have implications for infertility treatments and may help predict how women respond to fertility treatments.
Researchers identified thousands of RNA splicing mutations involved in complex traits and diseases, enabling accurate functional interpretation of genome-wide association study data. The findings highlight the importance of RNA splicing in linking genetic variation to disease.
A large-scale international study has identified three genetic variants associated with happiness and two variants linked to depression. The findings provide new insights into the genetic basis of neuroticism and the interplay between nature and nurture in shaping human happiness.
The Channel Island fox population has been found to have a surprising absence of genetic variation, with one population on San Nicolas Island showing an order of magnitude lower variation than any other known species. This near-absence of genetic variation poses a puzzle as to how the foxes have managed to thrive despite it.
A multi-institutional team of over 190 researchers analyzed genomic data from nearly 300,000 people to identify genetic variants associated with subjective well-being, depressive symptoms, and neuroticism. The study found three genes linked to happiness, two genes linked to depression, and 11 genes linked to neuroticism.
Researchers found three genetic variants associated with subjective wellbeing, two with depressive symptoms, and 11 with neuroticism. The study suggests that these traits are influenced by the same set of genes and may be studied jointly in future work.
Researchers found a genetic variation linked to slower Parkinson's disease progression, lower alpha-synuclein levels, and tremor-dominant symptoms. The 'good' GG genotype was associated with better outcomes for patients, including slower physical decline and lower dementia risk.
Researchers have improved upon previous assemblies of the gorilla genome using long-read sequencing technology and algorithms, reducing sequence gaps by 96% and closing 94% of previously identified gaps. The new assembly provides a better understanding of genetic variation between humans and non-human primates.
Researchers created accurate 'maps' of gene networks across 400 human cell types, describing hundreds of thousands of regulatory interactions. This global view provides new insights into disease mechanisms, pinpointing affected genes and tissues in complex diseases.
A study found that HIV patients in Africa with a certain genetic variant have a 63-percent lower chance of developing tuberculosis than those without the variant. This discovery may lead to the development of new TB treatments effective for both HIV-positive individuals and the general population.
A recent study suggests that genome-wide association studies (GWAS) should also identify genetic variants that predict behaviors increasing disease risk, allowing for targeted interventions. The study's lead author believes that GWAS can help develop more effective and better-targeted treatments by identifying modifiable risk factors.
A study of 2,022 patients found that genetic variations associated with a higher risk of fatal heart rhythms did not necessarily cause abnormal electrocardiogram readings. This highlights the importance of considering ECG data and other patient information before returning genetic results.
A study found that most patients with genetic variations linked to cardiac disorders did not show symptoms or signs of the conditions. The researchers suggest that some variants may have low penetrance or cause subclinical disease, raising questions about the validity of returning incidental genetic findings to patients.
Researchers have identified two genetic variants, ABCA7 and MA4A6A, associated with brain atrophy in Alzheimer's disease. The study found that protein levels in the blood produced by these genes could be used as biomarkers for diagnosis and potential treatment.
Researchers identified 52 genetic variations associated with AMD across 34 gene regions, offering hope for developing diagnostic tests and therapeutics. The study also found rare genetic variations in one subtype of AMD, which could explain why anti-VEGF therapy is less effective in some patients.
Researchers have identified 52 genetic variants associated with AMD, including associations between CFH and TIMP3 genes and the extracellular matrix. The study provides a framework for future studies of AMD biology and therapy development.
Research from St. Jude Children's Research Hospital found genetic variations associated with an 8-to-15-fold increased risk for osteonecrosis in young ALL patients. These variants were more common in patients who developed osteonecrosis, particularly near the BMP7 gene important for bone development.
A PhD project from the National Food Institute found that certain genetic variations increase the risk of lower vitamin D levels in Danes. The study identified two genes, CYP2R1 and GC, as influencers of vitamin D status. Genetic predisposition may be used to identify individuals at risk of lower vitamin D levels.
A study published in Nature Neuroscience found that genetic variants associated with schizophrenia were enriched for changes in DNA methylation in the developing brain. The research team identified potential implications for understanding the origins of schizophrenia and other neurodevelopmental disorders.
A genetic study of 35,000 patients with inflammatory bowel disease (IBD) reveals new insights into disease progression and severity. The research suggests that IBD may be an array of bowel disorders, rather than a single condition, and could lead to more effective treatments if identified early.
A consensus statement by 22 experts rejects the use of genetic testing to spot sporting talent or boost performance in children and young athletes. The limited scientific data on genetics of sports performance is insufficient to support these commercial tests.
A genetic variant has been found to increase the risk of fatty liver disease in obese children and adolescents, despite lower total and LDL cholesterol levels. The variant affects the TM6SF2 protein, which regulates fat metabolism in the liver.
Research finds men carrying ApoE4 gene suffer more tiny brain bleeds and memory loss than women with similar diagnoses. The study provides new insights into the effects of ApoE4 on Alzheimer's disease in humans.
New research suggests the cacao tree is 10 million years old, offering a chance for genetic variation to improve disease resistance and flavor diversity in the industry. This ancient origin provides a solution to the lack of genetic variation in cultivated cacao, making it vulnerable to pests and climate change.
Researchers have developed a new model that can accurately predict which genetic mutations significantly change how genes splice and may warrant increased attention from disease researchers. The model, trained on vast amounts of synthetic biological data, is available online and can help rule out unwanted variations in genetic sequences.
Researchers identified 10 new genetic variations associated with eczema, shedding light on the immune system's regulation. The study, involving 377,000 subjects, also found evidence of genetic overlap with inflammatory bowel disease.
A genome-wide association study has identified subtle genetic changes that affect the immune response to common viruses. The study found correlations between genetic variations and immune responses to four viruses: influenza A, Epstein-Barr, JC polyomavirus, and Merkel cell polyomavirus.
Researchers have discovered a new gene locus that explains why some African children develop severe malaria while others do not. The genetic variant, found in Kenyan children, reduces the risk of severe malaria by about 40% and lies within a region of the genome shared with chimpanzees.
Researchers at Brigham and Women's Hospital have found a link between genetic risk factors for Alzheimer's disease and key immune cells, paving the way for new diagnostic tools and treatments. The study suggests that higher levels of TREM2 may be associated with increased risk of Alzheimer's disease.
A new UK Biobank study has identified six independent genetic variants associated with lung health and chronic obstructive pulmonary disease (COPD). The findings also suggest that genetic variations affecting gene regulation may play a role in COPD, providing potential targets for novel therapeutic strategies.
Researchers will develop computational methods to analyze millions of genomic variants and narrow down the set of candidate disease-causing variants. They aim to understand how non-coding genetic variation affects gene regulation and disease risk.
A study of nearly 10,000 people from 14 European countries found a strong correlation between genes that increase height and those that produce reduced body mass index. This discovery could help explain why people from northern Europe are often taller and slimmer than others.
The UK10K project analyzed nearly 10,000 individuals to understand the contribution of rare genetic variants to various diseases. The study identified new genetic variants and genes underlying disease risk, increasing the resolution of genetic discoveries.
An international research team has identified a novel gene, EN1, associated with osteoporosis and bone mineral density. The study used extensive genetic data from the UK10K project to uncover a genetic variant near EN1 with the strongest effect on BMD and fracture.
Researchers from the University of Ottawa Heart Institute and Oxford University found that multiple common genetic variants contribute to heart disease, rather than a few rare variants. They identified 202 genetic variants in 129 gene regions that explain approximately 23% of coronary heart disease's heritability.
A recent study published in SLEEP reveals that African genetic ancestry is associated with lower slow-wave sleep amounts in African-American adults. The research found a significant genetic basis for racial differences in slow-wave sleep, which may lead to the development of population-specific treatment approaches.
Researchers discovered that genetic variation impacts multiple, separated gene regulatory elements simultaneously, revealing a harmonized and synergistic behavior. This study sheds light on fundamental aspects of genome biology and its role in complex diseases such as cancer and diabetes.
An international team of researchers has identified two robust genetic variants associated with major depressive disorder (MDD). The study, published in Nature, found that these variants are located on chromosome 10 and may be linked to mitochondrial function.
A study published in Molecular Psychiatry identified a genetic mutation linked to healthy information processing, shedding light on cognitive aging and age-related diseases. The CADM2 gene was found to be strongly associated with performance on tests of information processing speed.
Research reveals genetic differences in processing tenofovir among individuals, which could affect its effectiveness when used as a topical gel. Genetic variants identified in a study may lead to reduced activation of the drug, highlighting the need for personalized treatment approaches.
Researchers found a rare genetic variant in the A2ML1 gene associated with an increased risk of middle ear infections. The study, led by Dr. Regie Santos-Cortez, identified the variant in 37 Filipinos and two European-Americans with otitis media, suggesting it may be the result of a founder effect from Spain.
A new study from the University of Exeter found that sexually antagonistic genes can maintain genetic variation in insect populations, including resistance to pesticides. This discovery has significant implications for pest management and our understanding of evolutionary dynamics.
Scientists discover corals are already adapting to global warming through genetic variants that allow them to tolerate warmer waters. By exchanging coral immigrants, humans can help spread these heat-tolerant genes and boost reef survival.
A study found that influenza viruses use both airline and commuter road travel to distribute across the continental US. The commuter network was more often associated with genetic distance than other measures of spatial or network distance for the H1N1 subtype.
Researchers at EMBL-EBI developed a new method and algorithm that enables fast and efficient genetic analysis of large cohorts. The mSet algorithm allows for the simultaneous analysis of many genetic variants and traits, improving statistical power and enabling the study of up to half a million individuals.
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.
ClinGen aims to standardize genetic variant interpretation, resolving differences between labs and clinicians. The program uses ClinVar, a database of over 170,000 variant submissions, and has formed expert working groups to interpret gene-disease relationships and improve clinical decision-making.
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.
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.