Articles tagged with Genetic Variation
Researchers discovered seven new genetic variants that increase the risk of psoriasis, clustering in pathways involving IL-23 and NF-kappaB. The absence of skin genes LCE3B and LCE3C also increases the risk of the disease, suggesting an inappropriate immune response.
Researchers discovered that just four genetic variants in three yeast genes account for nearly 90% of the genetic contribution to sporulation efficiency. The findings suggest that transcription factors may harbor significant variations and point to the need for better statistical models and tools to understand genetic interactions.
Researchers recreated natural selection in real-time, demonstrating the first quantitative evidence for natural selection on standing genetic variation. The study found that only half of gene frequencies reverted to ancestral levels, highlighting the contingent nature of evolution.
A new genetic study has identified variations in 31 genes that increase a child's risk of developing Kawasaki Disease, a rare and severe childhood disorder. The findings will enable scientists to develop more effective treatments by revealing new targets for therapy.
A genetic variation affecting the CYP2C19 enzyme makes anti-clotting drug clopidogrel less effective in young heart attack patients, increasing risk of death, another heart attack, or stent thrombosis. Carriers of the gene variation are four times more likely to experience cardiovascular events than non-carriers.
Research found that gene expression and alternative splicing vary significantly between blood and brain tissues, with potential implications for understanding diseases such as epilepsy and Alzheimer's. The study suggests that genetic variation affecting splicing may be more relevant to disease than variations in overall gene expression.
A genetic study of over 90,000 people has identified six new genetic variants linked to increased Body Mass Index (BMI), indicating that many genetic variants implicated in obesity may affect behavior rather than energy or fat metabolism. The study suggests that the brain plays a crucial role in regulating body weight.
A genome-wide study has identified 23 regions of the genome associated with nine metabolic traits, including cardiovascular disease, type 2 diabetes, blood pressure, and inflammation. The study found 14 known genetic variants and nine novel variants, five of which are good candidates for important variants.
A population cohort study found six novel genetic variants associated with lipid levels, a common indicator of heart or artery disease. The research team analyzed over 20,000 DNA samples from European countries, increasing the power of 'genetic microscopes' to identify lipid-gene links.
A genome-wide association study reveals genetic variants influencing metabolic capacity, affecting disease susceptibility. The study identifies four SNPs associated with variations in polyunsaturated fatty acid synthesis and breakdown of triglycerides.
A study found that genetic variation on chromosome 9p21 and poor glycemic control interact to increase the risk of coronary artery disease in type 2 diabetes patients. The odds of CAD were 4-fold higher for those with two risk gene variants and poor glycemic control compared to those with one variant but good control.
A new study by Joslin researchers found that a common genetic variant associated with an increased risk of coronary artery disease is also linked to poor glycemic control in people with diabetes. Those with the variant and poor glucose control experienced a four-fold increased risk for CAD relative to those without the variant and good...
A new study suggests that genetic factors may influence the size of a brain region involved in emotional processing and impulsivity in teenagers. Researchers found that those with a family history of alcohol dependence had reduced volume of the right orbitofrontal cortex, an area critical for regulating impulsive behavior.
A global initiative aims to collect information on every fault in every gene worldwide, standardizing the reporting of genetic mutations. The project has been published in the journal Science and involves international collaboration between researchers from Australia, China, Japan, and Kuwait.
A new study at the University of Melbourne discovered that rare insect clones are favored by evolution, leading to increased genetic variation. This phenomenon, known as frequency-dependent selection, allows rare clones to become more common and produce more offspring.
Two genetic variants on chromosome 20 increase male pattern baldness risk by sevenfold, affecting up to 14% of men. The discovery is a scientific breakthrough but does not guarantee a treatment or cure for the condition.
Researchers have identified a genetic variant associated with isolated cleft lip, which affects approximately one in five cases. The study found that the variant disrupts proper expression of the IRF6 gene, leading to disruptions in AP2 binding and contributing to the development of cleft lip.
Researchers have identified SLC2A9 as a high-capacity urate transporter, playing a crucial role in controlling serum urate levels. The study suggests that genetic variants in SLC2A9 may contribute to increased serum urate levels and associated diseases such as gout.
A narrow genetic region on chromosome 15 has been found to significantly increase the risk of familial lung cancer by 5.7- to 7.2-fold, regardless of smoking status. The study identified specific genetic variants associated with the increased risk and suggests they may be targeted for cancer therapies.
Researchers at Wake Forest University School of Medicine have found a second independent site within the HNF1B gene that may contribute to the risk of developing prostate cancer. The new discovery strengthens the link between genetic variants and prostate cancer risk, improving the ability to predict prostate cancer risk.
A study of 228 women identified two genetic variants associated with body shape, one affecting European American women and the other African American women. These variants were also linked to weight, lean mass, height, total fat mass, and HDL-cholesterol levels.
A study found a link between genetic variation in the CHRNA5 gene, initial smoking experiences, and current smoking habits. Smokers were eight times more likely to report pleasurable first cigarettes, suggesting that genetics may play a role in nicotine addiction.
A new study has pinpointed genetic variations in European Americans, which may help isolate the genetic basis for disease and population variation. By analyzing DNA data from 1,521 individuals, researchers identified 200 positions within the DNA helix that capture much of the genetic diversity in this complex population.
Researchers have made a groundbreaking discovery in schizophrenia research, identifying three microdeletions and several single nucleotide polymorphisms that contribute to the illness. These genetic variations increase disease risk, with one of the microdeletions found on chromosome 1 having a moderate to large impact.
Researchers at VCU are part of an international team studying the genetic variants that impact recurrent major depression. The five-year project aims to establish a large data set of phenotypes and genotypes.
The National Human Genome Research Institute has awarded $31 million in grants to study the relationship between genetic variants and common diseases. Researchers will examine how genetic factors interact with environmental factors to influence health outcomes.
A genetic variant found almost exclusively in individuals of Asian descent significantly increases the risk of elevated triglycerides. The study found that 15.1% of Chinese-Americans with high plasma TG carried at least one copy of the variant, corresponding to a 4.4 times greater risk.
Researchers have discovered a genetic variation in the plasminogen gene that affects susceptibility to invasive Aspergillus fumigatus infections. Genetic testing may help identify high-risk individuals and inform pre- and post-transplant care.
Researchers at USC have identified a novel genetic association between fasting glucose levels and melatonin receptor 1B (MTNR1B), increasing the risk for type 2 diabetes. The study found a connection between MTNR1B and circadian rhythm regulation, suggesting potential links to sleep disorders.
A team of researchers at The Scripps Research Institute identified molecular changes in the cerebrospinal fluid of monkeys infected with SIV, which can cause CNS damage. This approach may provide new information about other neurodegenerative and neuropsychiatric disorders.
New data reveals genetic variation in AKT1 affects cognition and grey-matter volume in the frontostriatal region, a brain area dysfunctional in individuals with schizophrenia. This association may increase the risk of developing the condition.
A genetic variation in the GLUT2 gene is associated with higher intakes of sugars in two distinct populations. The study found that individuals with the variation consistently consumed more sugars, regardless of age or sex.
Research at Vanderbilt University Medical Center found that genetic variation in the mitochondrial genome is associated with an increased risk of age-related macular degeneration, a leading cause of blindness in Caucasians over 50. This discovery may lead to personalized medicine and preventive treatments.
A recent study published in Nature Genetics has identified two new genetic variants associated with fat mass, weight, and risk of obesity. The variants, located near the MC4R gene, act in addition to previously described FTO gene variants, resulting in an average increase of 3.8 kg (or 8.5 lb) in weight.
Research found that 40% of African-Americans have a genetic variant that protects them from heart failure and prolongs their lives. The variant has an effect similar to beta blockers, which are widely prescribed for heart failure. This study resolves the controversy surrounding beta blocker efficacy in African-American patients.
A genetic variation found predominantly in African Americans acts as a natural 'beta-blockade', protecting against death and the need for a heart transplant. The discovery adds to evidence that genetic differences influence medication response, highlighting potential for personalized medicine.
A tiny variation in the CHI3L1 gene increases blood levels of YKL-40, a biomarker for asthma. The genetic variation also lowers YKL-40 levels and protects against asthma. Researchers found similar connections between the CHI3L1 variations, YKL-40 levels and asthma susceptibility in three genetically diverse populations.
A comprehensive study of the genetic basis of psoriasis has discovered seven new sites of common DNA variation that increase the risk of this skin condition. The variations were found to be strongly linked to psoriatic arthritis and other autoimmune disorders, paving the way for more targeted therapies.
Scientists discovered seven new DNA variations linked to psoriasis, which also increased the risk of four autoimmune diseases. The study found a strong genetic component underlying these conditions, paving the way for targeted treatments.
A team of researchers has discovered six new genetic variants associated with an increased risk of type 2 diabetes, bringing the total number of genetic risk factors to 16. The study used combined genetic data from over 70,000 people and provides new clues to the processes that go wrong when diabetes develops.
A recent study discovered that variants of the LRP5 gene are linked to a significant increase in fracture risk by up to 20 percent and lower levels of bone mineral density, particularly in the spine and hip. The research, conducted on a large-scale evidence base, suggests that genetic factors play a major role in determining bone health.
A study by UCSD researchers reveals a link between chemical exposure and chronic, multi-symptom health problems in Persian Gulf War veterans. The study found that symptoms such as fatigue, muscle pain, and memory problems were more prevalent among veterans exposed to certain chemicals.
The study characterizes over 500,000 DNA markers in the human genome and examines variations across 29 populations on five continents. It reveals a wealth of information about human migration patterns, genetic diversity, and disease-related genes.
A Cornell-led study comparing 15 African-Americans and 20 European-Americans found proportionately more harmful genetic variations in Europeans. Computer simulations suggest that the first Europeans had smaller and less diverse populations, allowing mildly harmful variations to become more frequent over time.
Researchers found a strong correlation between climate and genetic variations influencing metabolic syndrome risk, with some genes associated with cold tolerance having protective effects while others increase disease risk. Climate adaptations may have played a role in the emergence of metabolic disorders.
A study by Yale University researchers has identified a gene, ENPP1, linked to preterm birth and low birth weight in Hispanic women. The study found that this variant of the gene may be associated with deranged energy metabolism, a possible explanation for preterm births.
A new study confirms a connection between decreased height and increased risk of osteoarthritis, suggesting that genetic variants may play a role in both conditions. The research analyzed the genomes of over 35,000 people and identified a variant associated with an average difference in height of about 0.4 centimeters.
A new study found evidence that common genetic variants linked to osteoarthritis may also play a minor role in human height. The variants, associated with an average difference of about 0.4 cm, lie in the region of the GDF5 gene, which influences cartilage development and bone growth.
Researchers have discovered more than 25 genetic variants associated with lipid levels, including seven previously unknown genes. These variants may lead to new strategies for treating and preventing coronary artery disease.
A new genetic variation has been identified that affects a child's risk of developing Kawasaki disease, an illness characterized by acute inflammation of the arteries. The variation influences immune activation and response to standard treatment, with implications for alternative therapies.
A study found that antidepressant non-responders with depression show a significantly better response to lithium augmentation if they carry at least one C-allele, suggesting a potential genetic predictor for treatment response. The GSK3B gene variation may be a key molecular switch related to the clinical effectiveness of lithium.
A comprehensive genetic analysis suggests that the ancestors of Native Americans originated from a single source in east Asia, with a unique genetic variant widespread across both continents. The study's findings support the land bridge theory and hint at evidence for coastal migration to South America.
A recent study published in Proceedings of the National Academy of Sciences reveals that breastfeeding enhances infant intelligence quotient (IQ) only if they have a specific genetic variant. This variant, found in the FADS2 gene, influences the metabolism of breast milk's long-chain polyunsaturated fatty acids, which are essential for...
The International HapMap Project has completed its second phase, tripled the amount of genetic variation assessed and describes up to 95% of common single-letter variations in the human genetic code. This increased density of identified SNPs allows researchers to better understand disease-associated genes and detect rare disease variants.
A new method called Microarray-based Genomic Selection (MGS) allows researchers to extract and enrich specific large-sized DNA regions for resequencing. This technology enables the detection of subtle genetic variations that may have serious consequences for health and disease.
A study found that individuals with a specific genetic variant (CYP2B6*6 allele) benefit from bupropion treatment and maintain abstinence longer than those without the variant. The study provides insight into personalized medicine for smoking cessation.
A study of over 300,000 genetic markers found a strong association between the ORMDL3 gene and an increased risk of childhood asthma. The research suggests that identifying this gene could lead to improved prevention and diagnosis of asthma.
Two large-scale genomic studies reveal new genetic variations in multiple sclerosis and suggest a link to other autoimmune diseases. The IL-7R receptor is identified as a critical factor in the disease's pathogenesis.
Researchers found that the genetic variation in laboratory mice is vastly greater than previously thought, with 8.3 million variations described. The pedigrees of the 15 mouse strains studied differ from each other to a far greater degree than previously assumed.
Researchers have identified two gene variants associated with immune system capacity against HIV, and a third variant linked to immune damage. These findings may lead to more targeted vaccines and tailored treatments.