Articles tagged with Genetic Variation
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A recent study has identified a link between rare Disrupted in Schizophrenia-1 (DISC1) gene variants and psychiatric disorders, as well as altered brain structure and function. The research reveals that common DISC1 variants impair signaling pathways and disrupt brain development, potentially influencing diagnosis and treatment.
Researchers created databases showing how genes turn on and off in multiple brain regions through development, revealing a 'consistent molecular architecture' across individuals. Key findings include individual genetic variations linked to expression patterns, with most genes reversing their direction of expression after birth.
Researchers identified a specific rare mutation, CFH R1210C, associated with advanced AMD and visual loss in patients. This discovery suggests that loss of CFH function drives AMD risk, pointing to new treatments for high-risk individuals.
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.
Researchers from UCLA's Henry Samueli School of Engineering and Applied Science contributed to the development of a comprehensive genetic catalog of 17 strains of mice. The study provides a complete picture of genetic variation in these mouse strains, enabling scientists to accurately predict gene expression levels and identify variant...
Researchers have identified 16 new genetic variations that affect blood pressure, providing a significant step towards better diagnostics and treatment. The discovery was made using genetic data from over 200,000 Europeans and reveals new genetic risk groups to help predict the risk of strokes and heart attacks.
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 found a genetic variation in the LRRK2 gene that reduces the risk of Parkinson's disease by nearly 20% in many populations. The study also identified different variants of the same gene that increase Parkinson's risk in Caucasians and Asians, providing evidence for multiple genetic risks contributing to the disease.
A team of researchers has identified five genetic variants that play a key role in the progression and mortality of prostate cancer. The discovery could lead to the development of a simple blood test to determine which patients need aggressive treatment versus conservative care.
A team of researchers has discovered that a genetic mutation in the CDKAL1 gene can lead to misreading of specific parts of the insulin-producing gene, resulting in decreased insulin production and impaired cell function. This finding sheds light on the underlying mechanisms of Type 2 diabetes.
A recent study by Yale University researchers has identified more than two dozen new genetic variants linked to disease risk in multiple sclerosis and other autoimmune diseases. The findings suggest a common genetic basis for many devastating immune system disorders.
Researchers identified 29 new genetic variants linked to multiple sclerosis, shedding light on immunological pathways and immune system involvement. The study confirms 23 known genetic associations and provides insight into a possible link between genetic and environmental risk factors.
An international team of scientists identified 29 new genetic variants linked to multiple sclerosis, providing key insights into the biology of the disease. The study confirms 23 previously known genetic associations and doubles the number of genes associated with MS.
Researchers launch pioneering study to create human platelet cells from stem cells to study inherited blood clotting abnormalities and genetic variations affecting platelet function. The goal is to develop a new approach to generating blood cells for patients in need of chronic infusions.
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.
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.
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.
Research reveals climbing affects plant size and distribution, altering genetic variation; conservation plans recommended to protect native vegetation
Researchers at George Washington University have identified 18 novel genetic markers for autism spectrum disorders, highlighting four distinct subtypes and ten associated variants. These findings provide potential genetic biomarkers for diagnostic screening and advance the understanding of autism's genetic contributions.
Researchers found that genetic variations can predict how persistently people will believe advice, even when it contradicts their experience. The study highlights the role of confirmation bias in decision-making, where people tend to distort experiences to align with pre-existing beliefs.
Researchers have discovered two genes linked to caffeine consumption, revealing a genetic basis for individual differences in caffeine intake. The study found that individuals with specific genetic variants consumed significantly more or less caffeine than others, highlighting the importance of genetic factors in shaping daily habits.
A new study suggests that rare genetic variants are more likely to influence disease than common ones. Researchers sequenced the complete genomes of 29 people and found that functional regions of DNA were more enriched in rare variants.
Researchers discovered new genetic variants affecting nonalcoholic fatty liver disease (NAFLD), which may help doctors diagnose and treat the condition more effectively. The study found that approximately one quarter of NAFLD variation is influenced by genetics, with potential applications for clinical algorithms and novel therapeutics.
Scientists have developed a new method to understand how different genes interact and affect cellular processes. The technique enables the identification of genes that influence each other's effects, similar to Facebook suggesting friend pairs, which could help predict patient outcomes and adapt treatments for diseases like cancer.
Scientists at the University of Nottingham are part of a £7 million research programme to increase wheat diversity and boost yield, addressing climate change and environmental concerns. The project aims to develop new high-yielding varieties adapted to global warming and environmentally friendly farming practices.
Researchers at Stanford University School of Medicine have identified genetic variations in a hormone involved in insulin secretion that occur more frequently in some human populations. These variants are associated with higher fasting levels of blood glucose and may help scientists understand the subtle changes in human metabolism, en...
A comprehensive analysis of human genomes identified 28,000 structural variants, including over 1,000 gene-altering mutations linked to diseases. The findings shed light on why some parts of the genome mutate more frequently than others.
Researchers have identified five additional genetic variations that contribute significantly to Parkinson's disease risk, with 20% of patients carrying high-risk variants being two-and-a-half times more likely to develop PD. The study highlights the importance of common genetic variation in the development of this debilitating condition.
Researchers at Duke University Medical Center found that genetic sequencing is insufficient to understand human disease, highlighting the need for functional tests. The study used a suite of diseases called ciliopathies, which can cause various traits in patients.
A new NIH-funded study aims to identify genetic variations that influence the outcome of stem-cell transplants for blood cancers and predict complications. The research, led by Dr. John Hansen, will analyze data from over 5,000 patients treated with allogeneic hematopoietic cell transplants.
Scientists at Cornell University have identified the genes related to leaf angle in corn, a key trait for closer planting, leading to an eight-fold increase in yield since the early 1900s. The study used a genomewide association study method to analyze genetic variation across the maize genome and predict traits with high accuracy.
A large collaborative study has identified 64 new genetic variants associated with adult height, providing insight into the complex trait. The research suggests that genotyping arrays with rare and uncommon single-nucleotide polymorphisms can capture new signals and disease variants.
A genetic variant of the HTR2B brain receptor molecule has been found to contribute to violent impulsivity, particularly when combined with alcohol consumption. The study, conducted by NIH researchers and their international collaborators, used human genetic analyses and gene knockout studies in mice to identify the mutation.
Research identifies two genetic variants associated with an increased risk of developing endometriosis, a condition characterized by pelvic pain and infertility. The variants were found on chromosomes 7 and 1, respectively, and are linked to hormone metabolism and the development of the female reproductive tract.
Researchers found that common genetic variants near aging-related genes influence the production of circular RNAs, which control INK4/ARF gene expression and risk of diseases like heart attack and stroke. Individuals with more of these circular forms have increased INK4/ARF gene expression.
A study of over 4,000 participants found that having a first-degree relative with atrial fibrillation increases the risk of developing AF. The risk is approximately 40% higher than those without familial AF.
Researchers at UCLA used brain imaging and genetic detective work to illustrate how genetic variants alter the brain, behavior, and learning. The discovery could lead to earlier detection of autism and targeted therapies to rebalance brain function.
The project produced a comprehensive map of human genetic variation using next-generation DNA sequencing technologies, containing approximately 15 million SNPs and over 20,000 structural variations. The database contains more than 95 percent of the currently measurable variants found in any individual.
A new study found that gene activity patterns in the brain differ significantly among individuals with varying genetic backgrounds. The study, published in PNAS, mapped gene expression across 49 genes in seven genetically distinct mouse groups, revealing localized differences in gene activity.
A collaborative study identified 180 genetic loci influencing height, clustered around genes in six biological pathways. The findings shed light on the complex genetics of height and its relationship to other traits.
A large-scale genetic study of 26,000 people has identified seven locations on the genome where differences in the genetic code are associated with asthma. The findings suggest that allergies may be a consequence of asthma rather than a cause, and that genetic testing is unlikely to predict who will develop the disease.
Spanish researchers have discovered a genetic link between the 677C>T variant and osteoporotic vertebral fractures in post-menopausal women. This finding highlights the importance of genetic analysis in identifying individuals at high risk for bone-related illnesses.
A large clinical study found patients with specific genetic variations in the IL-1Ra gene were almost twice as likely to progress to severe osteoarthritis. The study suggests using genetic patterns to identify high-risk patients for clinical trials and personalize treatment plans.
A study by Timothy Vyse and colleagues found that common CRP genetic variants are associated with acute-phase serum CRP concentrations in patients with rheumatoid arthritis. This association may influence therapeutic decision making and lead to improved clinical interpretation of inflammatory disease activity.
The latest phase of the HapMap Project reveals rare genetic variants distributed unevenly among populations, with some genes under selection in different populations. The study provides a framework for future genetic studies of variation and disease, highlighting the importance of examining diverse populations.
Studies confirm a region of chromosome 9 is associated with an increased risk of ALS across multiple populations. Genetic variations identified in the Finnish population contribute to familial and sporadic cases, suggesting a strong genetic link. The study provides new insights into the causes of ALS.
A study found that genetic variation in ABCB1 affects clopidogrel metabolism, leading to increased cardiovascular risk. The variation, which is common in half the population, can render standard clopidogrel treatment less effective, highlighting the importance of personalized medicine approaches.
A study found ticagrelor to be more effective than clopidogrel in preventing blood clots, regardless of genetic variations. This means patients with acute coronary syndromes can use ticagrelor instead of clopidogrel, eliminating the need for genetic testing.
Four common genetic variants of the PRKCB1 gene are associated with development of end-stage renal disease in Chinese patients with type 2 diabetes. The likelihood for ESRD increased with a greater number of risk alleles, with an adjusted risk six times higher for patients with 4 risk alleles compared to those with 0 or 1.
A team of researchers has discovered a genetic link between the immune system and Parkinson's disease, finding a new association with the HLA region. The study, which analyzed over 2,000 patients and healthy volunteers, suggests that immune function may play a role in the development and progression of Parkinson's disease.
Researchers identified a genetic variant on chromosome 18 associated with increased TB susceptibility in African populations. The study demonstrates the feasibility of genome-wide association studies in Africa, which have been successful in European populations but faced challenges due to high genetic diversity.
Dr. Nadeau's research focuses on the impact of ancestral generations on an individual's health status, challenging traditional studies that rely solely on inherited genes and environmental exposures. The NIH Director's Pioneer Award supports his five-year investigation into transgenerational genetic effects.
Researchers discovered 95 gene loci associated with lipid metabolism, including factors like cholesterol and triglycerides. The findings may lead to new treatments for coronary artery disease, as genetic variants offer molecular targets for cholesterol-lowering drugs.
A new study reveals that a combination of common and rare genetic variants contribute to hypertriglyceridemia. Researchers found that patients with high triglycerides had excess rare variants in four genes, adding up to 28% of cases.
Research identifies APOL1 gene variants associated with increased risk of kidney disease in African-Americans. The genetic variants may have evolved as a survival mechanism against parasitic disease in Africa.
A study by Beth Israel Deaconess Medical Center investigators identified the APOL-1 gene as a key factor in kidney disease among African Americans. The researchers found that variants in this gene are more common in individuals of recent African ancestry and may have evolved as a survival mechanism against parasitic disease in Africa.
Researchers from Boston University identified 19 genetic clusters, or 'signatures,' associated with exceptional longevity in centenarians. These signatures correlated with differences in disease prevalence and age-of-onset, potentially helping identify subgroups of healthy aging.
The UK10K project will analyze the genomes of 4,000 people with extensive health data and 6,000 people with extreme obesity and other conditions. The goal is to identify rare genetic variants important in human disease and improve our understanding of genetics.
Researchers have identified a genetic link between the CISH gene and increased susceptibility to tuberculosis, malaria, and serious bacterial infections. The study found that a single genetic variant in the CISH gene increases disease risk by 18% compared to those without the variant.
A new method has been developed to identify genetic mutations in active genes, enabling studies of disease effects and improving diagnostic accuracy. This technique allows researchers to study specific cellular processes and identify minority cells in tissue samples.