Articles tagged with Genetic Variation
A study led by Harvard School of Public Health identified a novel genetic variant associated with an increased risk of coronary heart disease in people with type 2 diabetes. The finding suggests that the genetic risk factors for cardiovascular disease may be different among those with and without diabetes.
A new software tool, DeNovoGear, uses statistical probabilities to identify and validate genetic mutations. This improves the diagnosis and treatment of mutation-related diseases, including pediatric diseases and cancer research.
Researchers have determined that five major mental illnesses are traceable to the same common inherited genetic variations, with schizophrenia and bipolar disorder showing the highest overlap. Common genetic variation accounted for 17-28% of risk for the illnesses.
A novel approach has been developed to scan the entire genome, allowing researchers to better understand the effect of genetic variants on protein translation. This method could lead to the development of biomarkers for personalized medicine and new therapies for complex diseases such as diabetes and schizophrenia.
Researchers have identified two genomic variations on chromosome 21 that are associated with the risk of congenital heart disease in people with Down syndrome. The study highlights the complex genetic architecture underlying this common symptom, which is also linked to an increased risk of chronic myeloid leukemia.
A large study found similar genetic variations in overweight newborns and obese adults, suggesting a common genetic background. This discovery may lead to earlier identification of high-risk newborns and interventions to prevent obesity later in life.
Researchers at Johns Hopkins Medicine found that individually harmless genetic variations affecting related biochemical processes may team up to increase the risk of schizophrenia. The study suggests a buildup of mutations in a pathway related to the disease can be the culprit for the mental disorder.
The largest genetic sequencing study of human disease to date investigated six autoimmune diseases, including thyroid disease and type 1 diabetes. The study found that a complex combination of hundreds of weak-effect variants, each common in the population, contributes to the heritability of these conditions.
Researchers discovered three unique genetic variations that influence body size and obesity in men and women of African ancestry. These gene variants, studied in a large-scale analysis of over 30,000 individuals, suggest a greater role for genes in causing increased BMI in African-Americans compared to Caucasians.
Pulmonary fibrosis is a condition where lung tissue becomes thickened and scarred, with no approved drugs for its most common form. A new study found that genetic variation accounts for approximately one-third of the risk, identifying seven novel genetic risk loci involved in host defense, cell-cell adhesion, and DNA repair.
A new study reveals that correcting PSA levels for genetic variants can significantly reduce unnecessary biopsies and false complacency. By tailoring screening levels to an individual's genetic makeup, the risk of prostate cancer can be more accurately assessed. This approach has the potential to prevent up to 15% to 20% of biopsies.
A large-scale genetic study has identified three new genetic variants linked to obesity in individuals of African descent, also influencing BMI in the US population with no known African ancestry. The study suggests that these variants are present in nearly all previously identified European-derived obesity genes.
Researchers discovered that different wasp genotypes influence aphid behavior, including whether they die on the plant or elsewhere. The study sheds light on how genetic variation can manipulate host species.
Researchers identified genetic variants associated with long QT syndrome in a small number of cases of intrauterine fetal death, including stillbirths. The study found that these variants were more common in late miscarriages and stillbirths than expected, suggesting a potential link between LQTS and intrauterine fetal deaths.
A recent study has identified a combination of genes and wheezing illness caused by human rhinovirus infection as a key predictor of childhood asthma. Children with a specific genetic variation and history of wheezing were nearly four times more likely to develop asthma by age 6.
A new study by Lund University researchers has found that epigenetic changes, such as DNA methylation, can influence the function of insulin-producing cells and alter genetic risk variants for type 2 diabetes. The findings suggest that these modifications may play a key role in the development of the disease.
Researchers have found genetic variants linked to alcoholism in the Spanish population, including women. The study identified polymorphisms in genes related to metabolism and the dopaminergic system, which are associated with increased risk of hazardous drinking and dependence.
Researchers have found six regions of the genome where humans and chimpanzees share identical genetic variants, suggesting that these traits date back to a common ancestor. This study highlights the importance of balancing selection in maintaining genetic variation and fending off infectious disease.
Researchers identified a protein trafficking defect in brain cells that may underlie common non-familial forms of Parkinson's disease. The defect is related to genetic variants in two genes, LRRK2 and RAB7L1, which disrupt protein sorting and lead to the accumulation of protein aggregates.
A genetic variant in the LPA gene has been identified as a major contributor to aortic valve calcification, increasing the risk by over 50%. Researchers found that people with this variant have higher levels of lipoprotein (a) cholesterol particles, which can lead to calcium deposits on the aortic valve.
A new genetic variant has been identified as a potential target for treatment in reducing stroke risk, with no association found in small vessel disease. The study highlights the need for individualized treatment approaches, given the different genetic mechanisms underlying various types of stroke.
A study of over 140,000 people has uncovered 18 genetic variants that increase uric acid levels, leading to improved treatment and prevention options for gout. The research also highlights the growing prevalence of gout worldwide, attributed to increasing obesity and aging populations.
A study cataloging genetic variants in healthy individuals reveals approximately 400 damaging DNA variants and a 1-in-10 risk of developing a genetic disease. The research highlights the complexity of genetic predispositions and raises ethical concerns about incidental findings.
A large-scale study has identified 15 new genetic regions associated with coronary artery disease risk, bringing the total to 46 regions. The research also found that lipid metabolism and inflammation play a significant role in CAD.
A study of over 1 million DNA variations reveals most harmful protein-coding mutations emerged during the past 5,000 to 10,000 years. This finding highlights the profound impact of recent human evolutionary history on contemporary genetic disorders.
Researchers at the University of Adelaide have identified a genetic link between pre-eclampsia and a variant of the AGT2R gene. Women who are overweight or obese during pregnancy are more likely to carry this variant, which increases their risk of developing the condition.
Researchers sequenced 1092 human genomes from 14 populations to discover more numerous and rarer genetic variations than previously known. This expanded genetic information enables the discovery of rare genetic variants important for understanding population history and disease association studies.
The 1000 Genomes Project has sequenced 1,092 human genomes, providing a genetic guidebook to help researchers interpret genetic changes in people with disease. The study found that rare gene variants are restricted to specific geographic regions and can be used to identify individuals at risk of certain conditions.
Researchers at Simon Fraser University have identified 475,806 genetic variants in the human genome that contribute to a 30% risk of developing Multiple Sclerosis. These variants, particularly those on chromosome 6, are linked to small DNA variations that have long been associated with MS susceptibility.
A recent genome-wide evaluation by Boston University School of Medicine researchers has found specific genes and alterations in their expression to be associated with an increased risk of developing Parkinson's disease. The study identified cis-effects in the MAPT region and trans-effects involving SNCA, MAPT, and RIT2 genes.
A new study reveals that insects feeding on plants drive genetic variation in their host species across large geographic areas. The researchers found that two aphid species exert pressure on plants to create diverse chemical defenses, leading to changes in the genetic makeup of plant populations.
A study by Emmanouil Dermitzakis and colleagues found that genetic variants impact gene expression differently in men and women. The researchers discovered that even with the same DNA mutation, the effect on gene expression varies between sexes.
A genetic mutation in the FADS cluster on chromosome 11 allowed early humans to convert plant-based polyunsaturated fatty acids to brain PUFAs, enabling increased brain size and complexity. This trait rapidly spread throughout the African continent under intense selective pressure.
Researchers have discovered three new genetic regions linked to primary biliary cirrhosis, bringing the total number of known regions to 25. The study used Immunochip technology to survey the genome for signs of autoimmune disease susceptibility.
A multi-national team of researchers has identified genetic variations on chromosomes 6p21 and 16q24 associated with Barrett's oesophagus. The discovery provides a basis for genetically screening individuals at high risk, as well as developing new therapy targets.
Recent advances in paleogenetics provide new insights into human evolution in Europe, showing that cultural and demographic events have shaped genetic variation among modern-day populations. The study reveals a more diverse range of mechanisms influencing genetic diversity than previously thought.
Researchers found two genetic variations in chickens with potential to fight cancer and bacterial infections, offering new clues for disease treatment. The discovery is based on the examination of NK-lysin, an antibacterial substance that occurs naturally in animals.
A recent study at Moffitt Cancer Center has validated a rare genetic variant associated with an increased risk of glioma, the most common and lethal type of brain tumor. The study found that individuals carrying this variant had a 3.5 times higher risk of developing glioma, but also experienced a 50% reduction in death rates
New research reveals rhesus macaques have three times more genetic variation than humans but with a comparable ratio of damaging mutations, indicating strong selection pressure to maintain gene function. The study's findings provide insights into the impact of population history on genetic variation and evolutionary selection.
A significant association has been found between alcohol dependence and genetic variations on chromosome 5q13.2, a region containing genes implicated in rare neurological disorders. The study, using genotyping arrays, identified two copy number variations (CNVs) that were associated with AD.
Researchers have identified a genetic variant in a cardiac protein that increases the risk of heart rhythm dysfunction and sudden death in patients with dilated cardiomyopathy. The variant, known as Ser96Ala, affects calcium regulation in heart cells, leading to arrhythmias and increased mortality.
Researchers found that including genetic variants and environmental factors in disease models only increases risk prediction sensitivity by 1-3% for three common diseases. The study suggests that understanding the complexity of genetic and environmental factors will be crucial to improve risk prediction.
A team of researchers has developed a new genetic method called spatial ancestry analysis (SPA) that can model genetic variation in two- or three-dimensional space. SPA allows for the modeling of the spatial distribution of each genetic variant, enabling individuals to be localized on a world map based on their genetic information alone.
A recent study found that rare variations in the human genome, which occurred following a population explosion, may influence susceptibility to common diseases. The researchers analyzed the genetic code of over 2,400 individuals and discovered more than half a million single-letter DNA changes, many of which were predicted to be harmful.
A large survey of human genetic variation reveals that rare genetic variants are surprisingly common, affecting millions of people. The study, published in Science, found that one individual in 14,002 had a unique variant in each of 202 genes.
Researchers have discovered a way to identify genetic variants linked to postnatal depression, paving the way for a simple blood test. Women with specific genetic markers are more likely to develop postnatal depression, which can have significant effects on their mental health and children's development.
A new study by Cornell University researchers found that genetic factors explain some variation in people's political attitudes and economic decisions. However, the effects of individual genetic variants are tiny and scattered across the genome, making it difficult to predict economic and political preferences.
A $2.4 million grant will help identify genetic variations that can predict the response to various treatment options for type 2 diabetes, with the goal of reducing cardiovascular disease. The study aims to target interventions to patients most likely to benefit and least likely to be harmed.
Researchers identified 56 genetic regions controlling bone density and found 14 variants increasing fracture risk in women. The study, involving 80,000 participants, reveals a significant link between genetic variations and osteoporosis.
Hebrew SeniorLife researchers have identified 56 genetic variants associated with osteoporosis and bone mineral density. The study found that these variants can increase the risk of bone fractures, with women over 65 facing a higher risk. The findings may lead to personalized gene-based treatments for osteoporosis.
A new study on Inflammatory Bowel Disease (IBD) in Canadian First Nations people reveals distinct genetic variations and immune response patterns compared to white populations. The research found lower numbers of genetic variants involved in recognizing bacteria, potentially impacting the disease's progression.
A genome study has identified three genetic variants associated with an increased risk of podoconiosis, a disabling leg swelling caused by an abnormal reaction to soil minerals. The discovery confirms the immune system link to the disease and suggests that drugs targeting immune responses may be useful in treating it.
A new study by Yale School of Medicine researchers found that obese youths with particular genetic variants are more susceptible to fatty liver disease. The study focused on three ethnic groups and measured liver fat content using magnetic resonance imaging.
A recent study led by Carlos J. Melian found that speeding up evolution through sexual reproduction may actually decrease species diversity. The researchers developed new models to connect the mode of reproduction to biodiversity and found that high genetic variation and evolutionary rates have little effect on general biodiversity.
A large-scale genomic study in Bangladesh has identified genetic variants associated with arsenic metabolism and elevated risk of skin lesions. The findings suggest that boosting arsenic metabolism may be an effective intervention for individuals exposed to the toxin.
Researchers are studying specially bred mice to better understand flu outbreaks and develop safer vaccines. The mice's varying immune response to the flu helps identify genetic factors influencing disease severity.
Researchers have developed the Collaborative Cross, a reference manual of genetic variation in hundreds of specially-bred mice and their genetic sequences, which more closely mirror human genetic complexity. This resource could aid development of more effective treatments for various human diseases.
A new study has mapped the genome of a Quarter Horse mare using next-generation sequencing, revealing genetic variants associated with sensory perception, signal transduction, and immunity. The research found that Quarter Horses have more genetic variation than Thoroughbreds, particularly in genes involved in these traits.
A recent large and comprehensive analysis of 50,000 genetic variants has identified four genes associated with type 2 diabetes and six independent disease-associated variants at previously known loci. The study provides valuable insight into the genetic risk for T2D across multiple ethnicities.
A new community resource, DGRP, provides the highest-resolution view to date of genome structure and variation in a population of fruit flies with diverse traits. The study has far-reaching effects on animal breeding, pesticide development, and personalized medicine.