Articles tagged with Genetic Variation
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 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.
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.
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.
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.
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.
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.
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.
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.
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.
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 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.
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.
Researchers have confirmed six new genetic variants that increase the likelihood of developing coronary artery disease. These variants, found in chromosomes 2, 6, 10 and 15, as well as two on chromosome 1 and one on chromosome 9, are common in white Europeans and explain a significant proportion of heart attacks.
Researchers found a genetic variant linked to an increased risk of developing COPD in smokers, suggesting a gene-environment interaction. The study suggests that genetic factors play a role in the development of COPD, alongside environmental exposure to cigarette smoke.
A common genetic variation on chromosome 9p21 is linked to a substantial increase in risk for heart attack, with individuals carrying the variation having a 1.64-fold greater risk of suffering a heart attack. The study found that approximately 21 percent of individuals of European descent carry two copies of the genetic variation.
Researchers have identified at least four new genetic variants associated with increased risk of diabetes and confirmed the existence of six more, boosting the number of known genetic variants to 10. These findings may lead to personalized medicine approaches by exploring how these genetic factors interact with lifestyle factors.
A recent study on chimpanzee genetics reveals three distinct groups with considerable genetic variation, which has important implications for conservation efforts. The research team found that the traditional geography-based sorting of chimps into western, central, and eastern populations is supported by significant genetic differences.
Researchers identify three genetic variants associated with an increased risk of Crohn's disease, including PHOX2B, NCF4, and ATG16L1. These discoveries offer new insights into the biological pathways underlying the disease and may lead to more effective therapies.
A recent study failed to validate the association of 85 genetic variants with increased risk for acute coronary syndromes (ACS), including heart attack and angina. The research included 811 patients with ACS, but found no conclusive evidence supporting the use of these gene variants as risk factors in clinical care.
A study led by the National Human Genome Research Institute identified a key genetic variant associated with small size in dogs. The IGF-1 gene was found to play a strong role in regulating body size across various breeds, offering potential insights into skeletal body size programming in humans and disease susceptibility.
Research suggests that genetic variations in MMP1 and vitamin D synthesis genes are associated with a higher risk of complications after hip replacement surgery. Patients with specific genetic variations were more likely to experience aseptic loosening and deep infection.
Researchers at Johns Hopkins Medicine have identified 34 unique genetic variations associated with sporadic ALS, bringing them closer to developing treatments. The study scanned the entire genome of 276 subjects with ALS and found that these genetic variants are more common in individuals with the disease.
Researchers have identified a genetic variation associated with a mild form of schizophrenia, which also confers improved overall survival. The HOPA12pb gene variation affects dopamine-releasing neurons and may hold the key to developing new treatments for schizophrenia and other related illnesses.
A global survey of genetic variation shows that at least 10-20% of heritable variation in gene activity is due to copy number variations (CNVs), affecting the activity of over 1,000 genes. The study provides a first genome-wide view of how unique genetic variations lead to unique patterns of gene activity.
Female Antarctic fur seals travel long distances to mate with genetically diverse males, rather than local dominant males. This behavior enables species to maintain genetic diversity, crucial for resisting disease and parasites.
A study found 5 genetic variations associated with the risk of nonfatal venous thrombosis in postmenopausal women, highlighting potential new targets for prevention and treatment. The findings suggest that genetic factors may play a significant role in the development of this condition.
A study published in The American Journal of Human Genetics identifies the chitinase 3-like 1 gene as a potential risk factor for schizophrenia. Genetic variations in this gene were found to be associated with schizophrenia, suggesting that genes involved in biological response to adverse conditions may play a role in predisposition.