Articles tagged with Genetic Variation
Researchers developed a polygenic risk score for lifespan based on weighted contributions from relevant genetic variants, predicting which participants were likely to live longest. They also found associations between genetic variants and Alzheimer's disease, heart disease, and smoking-related conditions with overall lifespan.
Researchers at ANU have discovered a new syndrome with an immune deficiency and inflammatory diseases of the skin, lymph nodes, and spleen. The study provides a powerful method for resolving potentially important genetic variants using whole genome sequencing and gene editing.
Two projects have analyzed 5,000 disease-associated genes and found unanticipated risk variants in 14.5% of adults and 11.3% of infants, leading to discoveries of previously unrecognized genetic conditions.
A genome-wide association study has identified a genetic locus near the SIM1 gene as a significant risk factor for erectile dysfunction. The link to this locus is independent of previously known risk factors, suggesting a unique mechanism specific to sexual function.
The Center for Human Genetics is conducting research to better understand the genetic causes of rare diseases using a combination of genome-wide association analysis and gene-editing techniques. The team has identified novel transcribed regions that play a crucial role in regulating complex traits.
Researchers identified two genetic variants associated with meaning in life and six with happiness in a massive study. The findings suggest that biological differences play a role in variations in meaning and purpose in life.
A new study reveals that common genetic variants can affect the risk of rare developmental disorders, changing our understanding of their causes. The research found that these variants can contribute to a range of conditions, including autism and schizophrenia.
A $929,475 project aims to understand genetic variation and its role in optimizing smoking cessation treatment choice using data from nine existing clinical trials. The research will provide unparalleled precision medicine to improve the prediction of who is more likely to quit smoking based on their genetics.
Researchers at Michigan State University have developed a new genetics tool called conStruct to analyze large datasets of genetic variation. The tool helps identify patterns of relatedness among individuals and populations, overcoming previous statistical challenges.
Researchers from University of Otago identify genetic variant that controls urate levels and gout risk in the gut as well as kidney. This discovery has significant implications for developing new medical interventions in gout and kidney disease.
The study of Flores pygmy humans shows they have Neanderthal and Denisovan ancestry, but no direct link to Homo floresiensis. The short-statured phenotype is a result of recent polygenic selection on standing genetic variation.
Researchers from Michigan Medicine have identified 151 genes associated with atrial fibrillation through a large genome-wide association study involving over one million individuals. The study also developed a genetic risk score that could help identify high-risk individuals and monitor them accordingly.
Researchers identified nearly 1,300 genetic variants associated with educational attainment, explaining about 4% of variation in individuals. The polygenic score combining these variants predicts the length of formal education as well as demographic factors.
Researchers used gene editing and stem cell technologies to predict genetic variants associated with hypertrophic cardiomyopathy, a condition that can lead to sudden cardiac death. The study showed promise for improving the accuracy of gene variant interpretation and diagnostic testing.
A Vanderbilt-led research team discovered genetic variations that increase heart attack risk even when patients are on statin drugs. The study found seven genetic variations associated with increased heart events in patients receiving statins, suggesting new targets for reducing cardiovascular risk.
A recent study published in Proceedings of the Royal Society B found that the Bahamian anole lizard's genetic variation is surprisingly low, making it unlikely to adapt quickly to future climate scenarios. The research suggests that strong selection pressure in the past may have eliminated future genetic variation.
A recent study published in Neuron reveals the significant contribution of common and rare genetic variations to the familial aggregation of migraine. The researchers found that common polygenic variation significantly contributes to the disease in families, with some subtypes showing a higher genetic load.
A global research project has identified 44 genetic variants linked to major depression, 30 of which are newly discovered. These findings suggest a shared genetic basis with other psychiatric disorders like schizophrenia.
Researchers found that Great Barrier Reef corals have enough genetic variation to adapt to rising ocean temperatures, allowing them to potentially survive for at least another century. This offers a glimmer of hope for conservation efforts, but also highlights the need to take action against global warming.
A study identifies genetic variants related to consonant processing, dyslexia, and reading performance. Variations in the READ1 sequence are tied to modern human-specific changes acquired between 4 million and 550,000 years ago.
Researchers have found a newly identified subset of a known genetic variant associated with an increased risk of hypertrophic cardiomyopathy in individuals of South Asian descent. The study suggests that this genetic variant and its subset may be better markers for carriers of heart dysfunction in this population.
Research found that a genetic variation in FGF21 is associated with lower body fat percentage and increased blood pressure. The study of over 450,000 individuals suggests that people with this genetic predisposition tend to consume more sugar than others.
A recent study published in PLOS ONE has confirmed the association of a chromosomal genetic variant with increased risk of atrial fibrillation (AFib) in Latinos. Latino individuals carrying the rs10033464 SNP at chromosome 4q25 are found to be at a 2.3-fold increased risk for developing AFib.
Researchers have identified genetic variants associated with type 2 diabetes and blood sugar levels in a large Chinese population study. The findings suggest that these variants can reduce gene activity, leading to elevated blood sugar levels. Further analysis is needed to understand the role of these variants in human insulin secretion.
Research from Imperial College London found that girls who start puberty earlier are more likely to be overweight as adults. The study used genetic variants to investigate the causal link between early puberty and body mass index (BMI) in women, suggesting that early puberty itself is a risk factor for obesity.
A new method developed by researchers at Vanderbilt University Medical Center identifies rare genetic diseases in patients with heart failure, stroke, infertility, and kidney failure. The study found that phenotype risk scores can help predict the presence of disease-causing genetic variants.
A University of Guelph study found that genetic variants in taste receptors influence the snacks chosen by preschoolers. Nearly 80% of kids carried at-risk genotypes, leading to a high intake of calories from sugar and fat.
A Canadian Medical Association Journal study has found genetic variants associated with diseases and adverse drug reactions in 56 healthy participants. The results suggest that whole genome sequencing can benefit Canada's health care, but also highlight potential pitfalls and the need for careful evaluation.
Scientists discovered clues to disease risk lie in molecular switches controlling genes, not just the genes themselves. The study used human induced pluripotent stem cells to model immune response variation between people, revealing that genetic effects are often hidden if not thoroughly searched for.
A new study reveals the vaginal tract harbors a more genetically diverse HIV-1 population than the blood, with an average of 5.7 variants vs. 1.7 in blood plasma. This finding supports the existence of a genetic bottleneck that filters out variants between the two compartments.
A large-scale study published in Nature Genetics identified 13 genes associated with body mass index (BMI) and obesity. The study found that genetic variations in these genes can affect the function of the genes and their proteins, leading to weight gain or loss. The researchers hope that this discovery will lead to personalized treatm...
A single gene variant can have a significant impact on human facial features, according to a new study published in Proceedings of the National Academy of Sciences. The research found three genetic variants tied to specific facial characteristics, including those related to steroid biosynthesis and mucolipidosis type IV.
Research reveals that genetic diversity impacts learned birdsong tempo, with heritable contributions explaining up to 55% of variability. The quality of instruction also plays a role in shaping the relationship between genes and song tempo.
Scientists used genetic variability to map a plant species' ability to adapt to climate change, finding that Scandinavian plants can cope with severe drought. The study suggests that relocating populations with genetic variants supporting drought adaptation could help rescue endangered species and improve crop performance.
Researchers have identified a low incidence of disease-causing IGF mutations and common polymorphisms in the IGF protein family. Dr. Rotwein's analysis suggests that most medical problems associated with IGF mutations are not caused by rare genetic mutations, but rather by prevalent genetic variations within the human population.
Researchers are investigating genetic variations that offer protection against Alzheimer's disease in elderly Amish individuals. They will also explore the causes of rapidly progressing late-onset Alzheimer's disease, which is characterized by a faster rate of cognitive decline and death compared to typical cases.
A study found that genetic variations account for 7-12% of chronic postsurgical pain cases, while clinical risk factors like age and sex contribute to 3-6%. Patients under 65 years old, males, and those with a prior history of chronic pain were at increased risk.
Researchers identified 126 genetic variations in wild fruit flies that affect sleep duration, with some individuals needing more or less sleep than others. The study suggests that multiple signaling pathways contribute to sleep duration and may explain why a single purpose for sleep has been difficult to pin down.
A team of researchers at Brigham Young University has identified a specific gene variant that protects people with high-risk genetic factors from developing Alzheimer's disease. The study reveals that this genetic function could be targeted with drugs to reduce the risk of Alzheimer's.
A recent study found a link between genetic variants and lower GLP-1 levels, which may predict increased cardiovascular mortality risks in type 2 diabetes patients. The research could lead to personalized patient care by testing genetic risk markers and tailoring treatments accordingly.
Researchers at The Feinstein Institute discovered dozens of genetic variations linked to general cognitive ability. These findings have the potential to aid in targeted treatment for cognitive disorders, including Alzheimer's disease, schizophrenia, and attention deficit hyperactivity disorder.
A study found that genetic determinants of puberty timing are associated with lower bone mineral density in childhood and adulthood. Later puberty is linked to lower bone mineral density, especially in the lower spine, increasing the risk of osteoporosis and bone fractures.
A new study has identified a genetic basis for natural variation in aging rates, found to be regulated by a novel neuropeptide coding gene (rgba-1) and its receptor gene npr-28. This discovery provides new insights into the biological regulation of healthy aging.
A recent study published in Science Advances suggests that corals can adapt to warmer oceans if global emissions are controlled. The research found genetic variants in some corals that make them more heat tolerant, but may not be enough to keep up with the rapid warming predicted by climate models.
A major study identifies 72 new genetic variants that contribute to the risk of developing breast cancer, bringing the total number of known common variants to around 180. These variants are found in regions regulating gene activity and differ from those involved in other diseases.
Rare variants combined with background genetic risk factors may account for many unexplained cases of familial breast cancer. The study identified at least 46 genes that were associated with an increased risk of breast cancer in patients with familial breast cancer.
Researchers have identified 13 new genetic risk variants for restless legs syndrome, a condition affecting up to one in ten people of European ancestry. The findings suggest that the condition may be related to neurodevelopmental disorders and offer clues for developing new treatments, including drugs like thalidomide.
Researchers have developed a mechanistic model for how healthy bodies function and identified key genetic variants that contribute to complex diseases. The study, co-led by Princeton University scientists, used multi-tissue data from over 449 donors to map associations between genetic variants and gene expression levels.
A study led by University of Pennsylvania geneticists has identified new genetic variants associated with skin pigmentation in diverse African groups. The findings shed light on human evolution and inform an understanding of the genetic risk factors for conditions like skin cancer.
Researchers have made the largest study on genetic patterns and molecular changes in specific tissues, showing tens of thousands of variants with detectable effects. The studies also identified rare genetic variants contributing to extreme changes in cellular markers.
Researchers at the University of Helsinki identified a genetic variation associated with damage caused by maternal alcohol consumption. The study found that this variation affects epigenetic marks on placentas and newborn head size, depending on inherited genetic factors.
A new study found that customizing warfarin dosing to a patient's genetic and clinical profile reduces adverse outcomes compared to clinically-guided dosing. The study involved 1,650 patients undergoing hip or knee replacement, who were randomly assigned to either genotype-guided or clinically-guided dosing.
Plant geneticists have developed a new application of CRISPR technology to rapidly generate variants of crops that display improved traits. By mutating regulatory regions, the scientists can achieve subtle changes in yield traits, providing flexibility for improving crop yields. This method has the potential to break yield barriers and...
A genetic variant found in African-Americans significantly reduces the accuracy of the HbA1c blood test used to diagnose and monitor type 2 diabetes. This means around 650,000 African Americans could have undiagnosed type 2 diabetes if tested with the HbA1c test alone.
Researchers at Osaka University discovered a rare genetic variant, RTN4R, that may play a fundamental role in schizophrenia. This finding supports the hypothesis that myelin-related genes are associated with the disease.
A common genetic variant in the LILRB5 gene is associated with an increased risk of muscle aches and statin intolerance. Researchers found that individuals carrying two copies of this variant have a higher risk of general statin intolerance and low-dose intolerance, highlighting the need for alternative treatment options.
A comprehensive study has identified 33 million genetic variants in 1,000 Swedish individuals, with 10 million being novel. The data will aid researchers and clinicians in understanding the association between genetic variants and diseases.
A new study published in Nature Communications reveals genetic variants that affect the immune response to infections, linking genetics and environment to disease risk. The research identified hundreds of genes where gene expression changes depend on individual genetic variants, shedding light on the genomic elements underlying immune ...
A study found that San Salvador pupfish acquired genetic variation from island fish, contributing to the evolution of specialized diets. The research identified 11 gene variants in the San Salvador fish genome that came from other Caribbean pupfish populations.
A genetic variant at chromosome 6p24 is associated with five vascular diseases, including coronary artery disease and hypertension. The variant enhances the activity of endothelin-1 gene, promoting vasoconstriction and hardening of arteries.