Articles tagged with Genetic Variation
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.
A new study of 43,596 Danish individuals found no statistically significant link between specific genetic variants and an increased risk of Crohn's disease. The study suggests that the effect of these genetic variants on disease risk is likely to be low, challenging personalized medicine approaches.
A Yale-led team has discovered three new genetic factors that significantly increase the risk of developing brain aneurysms. The study analyzed over 20,000 subjects and found that individuals carrying these variants are up to seven times more likely to suffer an aneurysm than those with no risk factors.
A genetic variation at the GPC5 gene has been linked to a reduced risk of sudden cardiac arrest. The study found that individuals with this variation have a 15% lower likelihood of experiencing the heart disorder, which claims over 250,000 American lives each year.
A study on fruit-flies published in PLOS Biology found that genes beneficial to males are detrimental to females, and vice versa. This genetic conflict maintains genetic variation within species by regulating sex-specific characteristics and strategies, such as resource acquisition for reproduction.
The study found that comparing the genomes of an entire family increases accuracy, identifies rare genetic variants, and helps understand disease-linked genes. This approach has the potential to revolutionize genetic research, enabling scientists to diagnose and treat individual family members more effectively.
Researchers at UCLA found a biochemical link between misery and death, as well as a genetic variation that blocks this link. They discovered that individuals with the rare IL6 gene variant were less susceptible to death due to inflammation-related mortality causes under adverse social-environmental conditions.
A University of Melbourne study reveals a genetic link between mammographic density and breast cancer, identifying two variants associated with increased risk. The findings confirm the long-suspected connection between higher mammographic density and breast cancer.
A study published in Nature found that around seven in every thousand morbidly obese people are missing a section of their DNA containing approximately 30 genes. This genetic variation is linked to severe obesity and can be identified through genetic testing.
Scientists at Duke University Medical Center found that rare genetic variants, rather than common ones, may be responsible for the genetic component of most common diseases. Simulation studies revealed 'synthetic' genome-wide signals of disease risk, suggesting a shift in research focus to detecting rare variants.
Researchers have discovered a genetic variant associated with aggressive prostate cancer, which may help identify men at risk of developing the disease. The study found that this genetic marker was present in 25% more men with aggressive disease than those with slow-growing disease.
Researchers identified a new tumor suppressor gene, SCARA5, that is frequently silenced in human liver cancer, and also found genetic variants in the HSPB7 gene linked to heart failure. The study suggests that these genetic changes can contribute to cancer development and progression.
A team of researchers has identified 12 genetic variants in the HSPB7 gene associated with heart failure. The study found a block of 12 genetic variants linked to heart failure in a large group of individuals.
Researchers at the University of North Carolina found genetic variations that lead to less efficient glucose metabolism in African-American patients compared to whites. These findings suggest a link between diet and environment in shaping genetic predispositions to diabetes.
Researchers have identified thousands of diverse genes in genetically inaccessible portions of the maize genome using new techniques. This study provides a foundation for uniting breeding efforts across the world and dissecting complex traits through genomewide association studies.
A new study reveals that nearly half of UK women have a genetic variation reducing their ability to produce sufficient vitamin A. Vitamin A plays a vital role in immune system strengthening and preventing infections. The study found that younger women are at particular risk, highlighting the importance of adequate diet for this nutrient.
A genetic variation in oxytocin's receptor has been linked to both empathetic ability and stress reactivity in a study of college students. Those with the GG allele showed lower heart rate responses to stress tests and performed better on a test measuring empathy.
A genome-wide association study identified 22 regions of the human genome associated with eight blood measurements, including haemoglobin concentration and platelet counts. These genetic variants are linked to increased risk of heart disease, coeliac disease, and type 1 diabetes in European populations.
Researchers discovered a genetic variation near the interferon gene IL28B associated with people's response to treatment. This finding could lead to the development of a diagnostic test and more effective treatments for hepatitis C, reducing adverse effects and improving outcomes.
Scientists have discovered a genetic variation that impairs the body's muscle cells ability to use insulin effectively, leading to insulin resistance and type 2 diabetes. The study highlights a potential new target for scientists developing treatments for this disease.
Recent discoveries of genetic variants affecting coronary artery disease and heart attack risk are promising for preventing the condition. The variants increase risk by 10-30% and are common, making them useful in prevention algorithms.
Researchers identify three genetic variations on chromosome 6 associated with psoriasis, with HLA-Cw*0602 being the strongest link. The study found that individuals with all three variants are nearly nine times more likely to develop the disease.
Researchers discovered two genetic variations linked to an increased risk of acute lymphoblastic leukemia (ALL), the most common childhood cancer in the US. Identifying these genetic glitches could improve treatment for children with this subtype of ALL, which tends to respond well to chemotherapy.
Researchers sequenced exomes of 12 people to detect rare genetic variants causing diseases. The study found that sequencing exomes can be used to uncover genes contributing to common conditions like diabetes and cancer, enabling personalized medicine.
Computational biologists at Carnegie Mellon University have developed a statistical method to uncover genome variations underlying complex disease syndromes. The graph-guided fused lasso (GFlasso) method showed increased power in detecting gene variants associated with complex symptoms compared to other methods.
Researchers identified a genetic variation associated with an increased susceptibility for inflammatory disease, linked to nonfunctional CARD8 gene. The study suggests that loss of function of this gene may be one way in which populations evolve a more robust host response to deal with infectious diseases.
A study found five genetic variants associated with high systolic blood pressure in African-Americans, suggesting potential new treatments. The variants were located near genes that code for proteins involved in hypertension regulation, offering hope for improved prevention and treatment options.
A multi-national group of investigators discovered that nearly a third of schizophrenia's genetic basis may be attributed to thousands of common genetic variants. These variants add up to a significant risk for developing both schizophrenia and bipolar disorder.
Genome-wide studies identify a vast array of genetic variation that may account for at least one third of the genetic risk for schizophrenia. The studies found a shared chromosomal neighborhood between schizophrenia and bipolar disorder, implicating an area of Chromosome 6 in immunity and gene expression regulation.
A study published in Investigative Ophthalmolgy & Visual Science found that multiple genetic, ocular, and environmental factors contribute to the incidence of AMD. Researchers developed a predictive model using these variables, which can be used to guide prevention and treatments.
A genome-wide association study identified 20 single nucleotide polymorphisms related to an earlier menopause, which could affect fertility in women. The study suggests that understanding these genetic variants may help improve fertility treatment for women with infertility issues.
Researchers identified a common genetic variant associated with reduced ability to quit smoking during pregnancy. The study found that women carrying the addictive gene were less likely to stop smoking during pregnancy compared to those without it.
A genetic variant in the KIFAP3 gene has been linked to a significant increase in survival time for patients with amyotrophic lateral sclerosis (ALS). The variant, found in over 1,800 individuals with ALS and nearly 2,200 unaffected controls, is associated with improved motor function and increased survival by 40-50 percent.
A team of biologists at the University of Texas at Austin has created a nearly complete collection of genes for a species of reef-building coral, revealing approximately 11,000 different genes. This genetic database will enable researchers to study natural variations in corals and their responses to stress, facilitating an explosion in...
Researchers at Johns Hopkins University found a link between genetic variations in the neuroglobin gene and an increased risk of Alzheimer's disease. The study, published in Neurobiology of Aging, suggests that lower levels of neuroglobin may contribute to the development of Alzheimer's.
Researchers have identified a genetic variant that impairs communication within the brain, increasing the risk of schizophrenia and manic depression. The study found altered brain activity patterns, particularly between the dorsolateral prefrontal cortex and other regions.
A large study at Penn Medicine has detected variations in central nervous system genes that contribute to the genetic risk of autism. The research found a particular genetic variation linked to an increased risk of autism spectrum disorder in children.
A research collaboration has identified a genetic variation that influences Rett syndrome severity, providing potential new target for treatment. Patients with the normal BDNF genetic variant experienced less severe symptoms, including later onset and fewer seizures.
Researchers identified two genetic variants associated with an increased risk of stroke, providing strong evidence for specific genes involved. The study, funded by the NHLBI and other NIH institutes, analyzed over 19,000 participants and replicated results in independent samples.
A new study reveals genetic risk factors for autoantibody-negative RA and show that these risks also apply to ACPA-negative RA. The study found a high heritability of RA in both forms, with HLA SE alleles contributing less to the genetic variance of ACPA-negative RA.
A new study found that a genetic variation increases melanoma risk in pre-menopausal women, with over 40% of those under 50 carrying the mutation. This discovery could lead to more effective surveillance and prevention strategies for this deadly skin cancer.
Researchers identified 14 gene variants associated with prolonged QT interval, a known risk factor for sudden cardiac death. Individuals with the top genotype scores were found to have a higher risk of prolonged QT intervals and increased mortality.
Researchers have identified 10 common variants of genes that modify the timing of heart contraction, known as the QT interval. These genetic variations are associated with an increased risk of sudden cardiac death, which claims over a quarter million Americans annually.
Scientists have identified a shared genetic predisposition between aggressive periodontitis and myocardial infarction, with a common genetic variant on chromosome 9. This discovery highlights the importance of considering periodontitis as a potential risk factor for cardiovascular disease.
Scientists at St. Jude Children's Research Hospital discovered 102 inherited genetic variations that affect chemotherapy response in acute lymphoblastic leukemia. These variations can help predict early treatment success and identify potential targets for novel drugs.
A study identified 102 genetic variants associated with minimal residual disease and hematologic relapse in children with acute lymphoblastic leukemia. The findings suggest that inherited genetic variation affects cancer treatment effectiveness, highlighting the importance of personalized medicine approaches.