Articles tagged with Genetic Variation
Researchers emphasize the need for targeted recruitment to make genetic tests clinically useful for non-European groups. By addressing cultural concerns and underrepresentation, efforts can reduce the incidence of variants of uncertain significance (VUS) in genetic databases.
Researchers at Karolinska Institutet found a link between genetic variants in diabetes drug targets and lower Alzheimer's disease risk. The study suggests that the target protein, KATP channel, may be a therapeutic target for treating and preventing Alzheimer's disease.
A new study reveals that combinations of multiple genetic factors determine the risk and severity of symptoms in Autism Spectrum Disorder. Researchers analyzed 37,375 individuals from 11,213 families to understand how rare mutations and common genetic variation contribute to ASD.
The study creates a catalogue of genomic diversity for endangered chimpanzees, allowing researchers to pinpoint the origin of confiscated animals within 100 kilometers. This information can support conservation efforts and combat the illegal trade of chimpanzees.
Researchers developed a genetic test that diagnoses primary immunodeficiency disorders (PID), revealing inherited genetic defects in nearly half of patients. The test uses next-generation sequencing technology to identify specific gene variants associated with PID, enabling targeted treatment and earlier intervention for family members.
A new study analyzed genomic data from global populations to identify genetic variants linked to COVID-19 severity. The investigation found dozens of genomic variations in critical genes, suggesting these may have evolved to protect against viruses similar to SARS-CoV-2.
A new study published in PLOS Genetics explores how genetics influenced an individual's quality of life during the COVID-19 pandemic. The research found that some people's genetic tendencies toward better wellbeing became more influential as the pandemic progressed, particularly due to social isolation.
Researchers at Uppsala University found that rare genetic variants contribute less to common diseases than previously thought. Common genetic variants with small effects play a major role in disease risk. High-throughput sequencing technologies are crucial for identifying individuals with pronounced genetic risks, suitable for precisio...
A recent study found that boosting the pink pigeon's numbers is not sufficient to prevent its extinction in the future. The species has a high genetic load of bad mutations, which puts it at risk of collapse if conservation efforts do not continue.
The 5th annual Mutational Scanning Symposium will take place in Toronto on June 13-14, bringing together experts to discuss key topics in personalized medicine and variant effects. Keynote addresses by Drs. Doug Fowler and Clare Turnbull highlight the importance of interpreting genetic variants for personalized treatment.
A large study has found six predictors that can help determine the optimal lithium dose for patients with bipolar disorder. The predictors include age, sex, kidney function, and medication use. The researchers hope to develop a digital app to aid psychiatrists in finding the right dose.
Research reveals distinct cellular receptor mutations influence COVID-19 disease severity, with high-affinity variants associated with increased risk. The study found that these genetic variants lead to an exaggerated immune response and enhanced antibody-dependent activation of killer cells.
Researchers identified a region of the mouse genome associated with higher mutation rates, which is linked to a specific gene called Mutyh. This finding supports the theory that genetic differences can affect mutation rates, and may also shed light on cancer susceptibility.
Researchers at Karolinska Institutet have mapped the formation of hybrid strains in Trypanosoma cruzi, a parasite causing chronic infection and severe symptoms. These hybrids are more effective at evading the immune system and causing disease, but understanding their formation can help develop new diagnostic and treatment methods.
Researchers found a common genetic variant that may protect women with endometriosis or polycystic ovary syndrome from future heart disease. The variant also appears to lower the risk of breast and other cancers in women who experience preeclampsia.
Researchers developed a genetic-risk score to identify women most at risk for gestational and postpartum diabetes. Intensive lifestyle intervention reduced their risk, but only benefited those with the highest genetic risk.
A research team has developed a genetic score to predict the likelihood of needing knee or hip replacement surgery for osteoarthritis. The score was validated in a study involving 12,093 individuals and found that those with high risk scores had a higher odds of needing replacement surgeries.
Researchers have discovered a new sleep molecule, microRNA-137 (miR-137), that regulates hypocretin levels for normal sleep. The study found that miR-137 is associated with hypocretin regulation and sleep disorders such as narcolepsy and insomnia.
A large-scale study found genetic links between COVID-19 severity and various medical conditions, including venous embolism, type 2 diabetes, and ischemic heart disease. The analysis also revealed shared genetic architecture with idiopathic pulmonary fibrosis and reduced risk of autoimmune conditions.
A study published in eLife has identified genetic variants linked to age-related mobility changes. The research suggests that variations in a mitochondrial enzyme may contribute to the loss of strength and mobility as people age. The findings have important implications for understanding age-related muscle health.
Researchers from The University of Texas Health Science Center at San Antonio have identified 33 genes associated with Alzheimer's disease, doubling the known list. This discovery adds 42 new genetic variants to the existing gene list, shedding light on emerging pathways of Alzheimer's biology and potential treatment targets.
Human activity on Hainan Island is causing changes in the body shapes and diets of tropical birds, resulting in biotic homogenisation. Despite efforts to protect biodiversity, the island's unique ecosystem is being affected by large-scale economic and land-use changes.
A study suggests that accounting for genetic factors causing normal variations in PSA levels could improve the accuracy of prostate cancer detection. By analyzing data from over 95,000 men, researchers identified a polygenic score that accounted for 7.3-8.7% of variation in baseline PSA levels and was not associated with prostate cancer.
Researchers identified a genetic variant associated with increased response to anti-PD-1 therapy and higher immune-related side effects in lung cancer patients. The variant, found in 15.7% of exceptional responders, may be used to identify patients who would benefit from treatment.
Researchers found that mice with the Val89 gene variant exhibit attention deficit disorder-like problems, including diminished cognitive performance and increased vulnerability to distraction. The study provides direct evidence of the genetic variant's effects on acetylcholine availability and its resulting cognitive impacts.
Researchers at UCF have identified 116 new gene variants in sea turtles that may protect them from a tumor-causing disease. The discovery sheds light on the role of MHC class I alleles in potentially safeguarding sea turtles against fibropapillomatosis.
A gene map predicted the likelihood of high blood pressure leading to heart problems or stroke in people with Type 2 diabetes. The study identified a genetic risk score that correlated with increased cardiovascular event risk, highlighting the potential for personalized treatment strategies.
Scientists have successfully sequenced an entire human genome, filling in gaps that were previously unknown or difficult to read. The achievement marks a major breakthrough in understanding the complexities of human genetics and has the potential to reveal new insights into evolution, disease, and adaptation.
Researchers fill in gaps in Human Reference Genome, discovering repetitive sections are a major source of human variation and genetic diversity. The Telomere-2-Telomere project reveals complex architectural features with significant consequences for understanding human evolution and biological function.
The T2T consortium's completed human genome has shown significant improvements in DNA sequencing accuracy, correcting tens of thousands of errors and revealing millions of genetic variations. This new reference genome can support the analysis of over 200 genes of medical relevance, potentially propelling research into genetic disorders.
A recent Sri Lankan twin study reveals that genetic factors contribute to approximately one-third of the variation in depressive symptoms, while environmental influences account for around two-thirds. The study also found a strong association between depressive symptoms and health-related quality of life.
A National Jewish Health-led study found that over a third of identified genetic risk factors for asthma are associated with altered function of airway epithelium. The research discovered genetic changes in genes related to mucus production and type 2 inflammatory pathways, increasing asthma risk.
A new Brazilian database of whole-genome sequences brings diverse genetic information to international databases, shedding light on the genetics of aging and disease in Brazil's elderly population. The study identified over 2 million novel genetic variants, providing insights into the health and well-being of older adults.
Researchers found that female Faeder variants produce fewer offspring, but this disadvantage helps their males, who benefit from their rarity and obtain more matings. The contrasting effect of the variant contributes to its persistence over time.
Researchers found that genetic ancestry is associated with differences in biology of acute lymphoblastic leukemia (ALL) and is an independent factor contributing to treatment outcomes. Children from East Asian and South Asian backgrounds had better survival rates than Caucasian children, with Indian children having the best outcomes.
A new CNIC study warns that mitochondrial therapeutic interventions can cause damage due to the mixing of mitochondrial DNAs from two distinct origins. This can lead to medium- and long-term health issues, including heart failure, pulmonary hypertension, and muscle loss.
Scientists developed a powerful new tool called Giraffe to improve genomic research by leveraging global genetic diversity. The tool allows for the use of a diverse pangenome reference point, enabling faster and more sensitive comparisons of short-read human genome sequences.
A study reveals that new bird species arise in lowland habitats before moving higher into mountainous areas, where genetic differences accumulate. The research suggests that climate fluctuations, particularly during the Pleistocene era, contributed to the evolution of these high-altitude populations.
Researchers at Clemson University have identified a genetic variation associated with congenital idiopathic megaesophagus (CIM) in German shepherd dogs, which is often fatal if left untreated. A genetic test using melanin-concentrating hormone receptor 2 and dog's sex can predict the risk of CIM with 75% accuracy.
Researchers at Johns Hopkins Medicine discovered a critical step in the molecular circuitry of immune cells that mobilizes the immune system to fight off foreign invaders. The findings, published in iScience, shed light on subtle genetic variations among human populations that may explain individual responses to infections.
The March issues of American Psychiatric Association journals focus on the genomics of psychopathology, exploring its relationship with various mental illnesses. Research highlights unique genetic patterns among individuals who die by suicide using violent means.
A world-first discovery has identified a genetic mutation responsible for a lymphatic disorder that may cause stillbirth or severe chronic disease in affected children. The mutation, MDFIC, controls the growth and development of lymphatic vessels in the fetus, leading to fluid accumulation in critical organs.
A COVID-19 genetic risk variant inherited from Neandertals reduces the risk of contracting HIV by 27%. This variant is associated with fewer CCR5 receptors, which can lower the risk of HIV infection.
Researchers at Gladstone Institutes have developed a novel method for identifying genetic variants that are likely to play important roles in congenital heart disease. The study leverages interactions between proteins to pinpoint candidate genes, including GLYR1, which is involved in turning other genes on and off.
A new study published in JAMA Internal Medicine has found that gene variants increased the risk of acute kidney injury and death in African American veterans hospitalized with COVID-19. The study, which analyzed data from over 850,000 diverse veterans, identified APOL1 variants as a key contributor to this increased risk.
Researchers at Uppsala University studied the genomic effects of inbreeding on Scandinavian wolves, finding that 10-25% of original genetic variation was lost after five generations. The study revealed a surprisingly large number of genetic variants disappeared, highlighting the risks of inbreeding in endangered species.
A team of scientists has identified hundreds of new genomic loci associated with brain structure, shedding light on how the human brain is shaped. The study used genetically informed brain atlases to uncover the largest number of genetic variants linked to cortex size and thickness.
A study found that humans have evolved less sensitive noses compared to other primates, with genetic variations affecting scent perception. Researchers screened the genomes of over 1,000 Han Chinese people and an ethnically diverse population to identify novel genetic variants associated with odor detection.
A genetic study published at Queen Mary University of London found that individuals with higher genetic sensitivity benefit more from couple's therapy, particularly in the long-term. The researchers used genome-wide data to assess genetic sensitivity and found that it had a significant impact on marital satisfaction over time.
Healthy-looking ochre sea stars have minimal genetic difference from those displaying symptoms of sea star wasting syndrome. The scientists found no significant genetic variation between healthy and sick individuals, raising concerns about the species' resilience in the face of future outbreaks. However, they identified some genomic re...
Researchers identified seven rare structural variants affecting 31 genes in severely ill COVID-19 patients, shedding light on individual responses to the virus. These genetic variations may help explain differences in illness severity and suggest potential targets for early intervention.
A new analysis links genetic variants associated with high blood levels of lipoprotein A to a higher risk of prostate cancer, including advanced or early-age-onset cases. The study found no significant associations for other blood lipids.
Researchers analyzed DNA sequences and electronic health records of thousands of individuals to discover that the chance a pathogenic genetic variant may cause a disease is relatively low, about 7 percent. However, some variants are linked to wide range of risks for disease.
New research highlights key differences between COVID-19 variants alpha and omicron, including the impact on virulence and disease severity. The study suggests that omicron's genetic makeup is less conducive to causing severe illness compared to its older variant sibling, alpha.
Researchers at Karolinska Institutet have identified a specific gene variant that protects against severe COVID-19 infection, found in individuals of African ancestry. The study analyzed 2,787 hospitalized patients and 130,997 people from six cohort studies, revealing an 80% prevalence of the protective variant among Africans.
Researchers have discovered how genetic variations of the oxytocin receptor affect hormone signaling inside brain cells. The mutated variant is more active and stable than the normal receptor, contradicting previous classifications. This finding provides new starting points for developing targeted therapies for autistic patients.
Researchers have identified a previously unknown gene, goldentouch, responsible for the golden coloration in Midas cichlids. The gene, found on chromosome 11, is present in two variants: one associated with dark coloration and the other with orange/yellow coloration.
A study at the University of Helsinki found that the APOE4 allele may increase cerebral microhaemorrhages and mental fatigue in COVID-19 patients. The risk of developing severe COVID-19 more than doubled in carriers of this allele.
A genetic variation among some Greenlanders makes sugar healthy by converting it into a short-chain fatty acid called acetate, which boosts the immune system. Adult carriers have lower BMI, weight, and fat percentage, while children may experience negative consequences from consuming sugar.
Researchers have introduced a new tool, Giraffe, that can efficiently map new genome sequences to a 'pangenome' representing many diverse human genome sequences. This approach allows for a more comprehensive characterization of genetic variations and reduces mapping bias.