Articles tagged with Genetic Variation
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.
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.
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 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.
Researchers found that genetic variations from Neanderthals shape modern human brain structures, particularly those involved in tool use and visualization. This may lead to trade-offs with social brain function, potentially contributing to deficits seen in these disorders.
A large-scale study has identified over 50 new genetic markers associated with systemic lupus erythematosus (SLE), a common autoimmune disease. The research found that certain ethnic groups are more likely to develop SLE and experience more severe symptoms.
A study led by the University of Cambridge identified sixteen common genetic variants linked to muscle strength, revealing biological insights into complex traits. The findings suggest that genetic variation in genes related to muscle function may influence differences in strength in the general population.
A study by Harvard University found a genetic 'switch' that controls the activity of a key skeletal gene related to height, which is also linked to an increased risk of osteoarthritis. The variant, more prevalent in Eurasian populations, favors shortness and is associated with lower GDF5 activity in growth plates.
Researchers from the Wellcome Trust Sanger Institute and their collaborators have created a high-resolution map of the disease, pinpointing 18 genetic variants with over 95% certainty. This breakthrough has significant implications for the development of new treatments and personalized medicine for IBD.
A team of international researchers has identified seven risk genes for insomnia, revealing the genetic basis of this common health complaint. The study found a strong genetic overlap with anxiety disorders, depression, and neuroticism, suggesting that shared biological mechanisms contribute to insomnia and these traits.
Research reveals that nutritional factors significantly impact genetic variation and mutation patterns in bacteria, leading to distinct evolutionary paths. Environmental stresses like starvation for essential elements determine the availability of mutations, influencing the emergence of traits dependent on specific mutations.
Researchers identified a risk locus for urinary incontinence near the endothelin gene, which is involved in bladder contraction. The study suggests that drugs targeting this pathway may help alleviate symptoms, offering new hope for women suffering from stress and isolated urgency incontinence.
Scientists have discovered a genetic variant that enables the Mylopotamos Greek population to live long and healthy lives despite consuming an animal-rich diet. The variant, rs145556679, is associated with lower levels of 'bad' natural fats and cholesterol, reducing the risk of cardiovascular disease.
Researchers have discovered two genetic variants associated with bicuspid aortic valve development, which affects the heart's ability to pump oxygen-rich blood. The study, published in Nature Communications, found that these variants affect a key cardiac transcription factor called GATA4, leading to disruptions in valve formation.
Researchers at George Washington University found a co-occurrence of COMT and BRCA 1/2 variants in women who remained cancer-free, suggesting potential protective effects. Further research is needed to confirm the findings and explore the mechanisms behind this association.
Researchers found distinct genetic variations in mountain and savannah honey bees that help them adapt to high altitudes. The study reveals a shared evolutionary history between the two sub-species.
A recent study from Indiana University challenges the use of CRISPR-Cas9 technology to control disease-carrying insect populations. The research found that naturally occurring genetic variation can render CRISPR-based methods ineffective, complicating efforts to prevent diseases like malaria and crop blights.
Researchers analyzed DNA samples from over 95,000 participants to examine the association between Alzheimer's disease and low BMI. The study found no causal relationship, suggesting that individuals with Alzheimer's disease are more likely to have low BMIs due to weight loss in the early stages of the disease.
A new study using MaPSy technology identifies nearly 500 genetic mutations that cause errors in gene splicing, which can lead to diseases. The research also discovers patterns and predictions of problems, including vulnerabilities in genes and specific mutations that can be fixed.
Researchers have developed a new collection of induced pluripotent stem cells (iPSCs) to study human genetic variation. The iPSCORE collection includes 222 iPSC lines from diverse ethnic groups, enabling researchers to investigate the segregation of traits and their molecular mechanisms.
A genome-wide analysis identified 30 known risk variants, accounting for 6.5% of the inherited component of risk. The variants are common and have small effects on risk, with women carrying multiple variants still having a low lifetime risk of 2.8%.
A study on European populations reveals genetic adaptations to dietary changes, influencing the production of vital fatty acids. The findings suggest that Europeans are adapting to a diet rich in plant-derived fats, while those with high animal fat intake produce more long-chain PUFAs.
A common genetic variant, TMEM106B, accelerates normal brain aging by up to 12 years in people aged 65+, highlighting potential new targets for preventing age-associated brain disorders like Alzheimer's disease. Researchers also identified another variant associated with brain aging within the progranulin gene.
African American women who carry a specific genetic variant of the p53 gene may have a nearly 70% increased risk of developing breast cancer before menopause. The study found an association between the polymorphism and breast cancer risk in premenopausal women, highlighting disparities in cancer research.
A team of scientists has conducted the largest genome-wide association study on proteomics to date, revealing 539 associations between protein levels and genetic variants in complex diseases. The study found these associations overlap with risk genes for 42 complex conditions, such as cardiovascular disease and Alzheimer's disease.
Researchers identified a genetic variant in neutrophil cystolic factor 1 (NCF1) associated with increased risk for autoimmune diseases. The study found that increased NCF1 protects against systemic lupus erythematosus (SLE), while decreased NCF1 raises SLE risk.
Researchers discovered 83 genetic variations affecting adult height by more than 2 centimeters, influencing bone and cartilage development. The study's findings may help identify genetic variations that influence common diseases and develop personalized treatments.
A massive international study of over 750,000 people has uncovered 83 rare genetic variants that significantly affect human height. The findings shed light on previously unknown biological pathways involved in skeletal growth, with some variants influencing height by more than 2 cm.
Scientists have identified a genetic variant that doubles an individual's risk of developing ulcerative colitis and uncovered novel genetic associations to IBD risk. The study provides clues on new drug targets for IBD treatment.
Researchers identified genetic variants that affect Crohn's disease severity, but found these variants do not determine individual risk of developing the condition. The study suggests new pathways for treating established disease.
Researchers have identified rare genetic variants linked to observable physiological characteristics in over 50,000 individuals. This approach has the potential to inform healthcare and prevent undiagnosed single-gene disorders like familial hypercholesterolemia.
A University of Florida study found that discrimination interacts with certain genetic variants to alter blood pressure and increase the risk of hypertension. Vicarious unfair treatment, or experiencing discrimination through close friends and family, also had a significant impact on stress levels.
Researchers have identified six loci linked to personality traits and found correlations between these traits and distinct psychiatric disorders. Personality factors such as extraversion and neuroticism were associated with specific genetic variants.
Researchers investigated whether genetic variation in an immune system component called the complement system may contribute to vision loss during anti-VEGF therapy in wet AMD patients. Genetic variations were found to lead to complement system dysregulation, which was enhanced by blocking VEGF signaling.
A recent study by Guimarães et al. found that patients with atypical cutaneous leishmaniasis (ACL) in northeast Brazil have distinct genetic variations and higher levels of inflammatory cytokines. ACL is characterized by longer disease duration, more lesions above the waist, and reduced effectiveness of antimony treatment.
A recent study identified five genetic variants associated with higher levels of isoleucine, leucine, and valine, which are linked to an increased risk of type 2 diabetes. The researchers also found that these genetic variants were more common in individuals with impaired metabolism of branched-chain amino acids.
A team of scientists found that corals in the genus Orbicella have high genetic diversity, allowing them to adapt to environmental changes. This discovery predicts their potential survival under future climate change, making them a key species for conservation efforts.
Researchers identified a genetic variant in MYBPC3 that predisposes South Asians to hypertrophic cardiomyopathy, an enlarged heart condition. Early screening of this variant can help reduce the incidence of sudden cardiac death in this population.
A new technique allows researchers to quickly and cheaply generate DNA variants in a particular stretch of DNA, enabling the distinction between harmless and potentially hazardous genetic variations. This technique has the potential to speed up gene catalog creation and aid clinicians in interpreting genetic mutations.
Researchers at Wayne State University School of Medicine have shown that interactions between genetic variants and environmental exposures significantly impact human traits and diseases. The study highlights the importance of precision medicine initiatives for communities with different ancestries, including urban areas.
African genetic variants associated with increased risk of albuminuria and low glomerular filtration rate among Hispanic/Latino adults, highlighting the importance of ancestry in kidney disease risk, researchers say.
An international study has clarified which specific genes are affected by genetic variants associated with schizophrenia, providing a blueprint for researchers to tackle complex diseases.
A genome-wide association study identified genetic variants that contribute to the formation of healthy facial traits, including nose size and face width. The study confirmed previous findings and provided insights into the role genes play in facial development.
Researchers sequenced exomes of 60,706 individuals from diverse populations to identify 7.4 million genetic variants, providing unprecedented resolution into low-frequency protein-coding variants. The analysis found only nine pathogenic variants with strong disease associations.
A study by Hokkaido University researchers found that juvenile songbirds exhibit familial differences in their earliest vocal babblings, suggesting a possible genetic basis for these variations. The findings reveal that the variations are more pronounced among different families and persist even when deafened.
A Harvard Medical School study reveals genetic tests may have disproportionately misdiagnosed hypertrophic cardiomyopathy in black Americans due to racially biased methodologies. The findings highlight the importance of using diverse control populations to ensure accurate test results.
A study identified two genetic variants associated with an increased risk of radiotherapy side-effects in prostate cancer patients, including rectal bleeding and urinary frequency. The findings suggest that these variants are located in genes expressed in tissues exposed to radiation.
A recent study identified a genetic variant associated with higher BMI levels and increased efficiency of fat storage among Samoans. This 'thrifty' variant, found on chromosome 5, is linked to the islands' high obesity rates and may have evolved as an adaptation to food scarcity in ancient times.
Researchers used a genetic scoring technique to predict academic achievement from DNA, achieving 10% accuracy. This surpasses previous methods like gender and 'grit', which explained only 1-5% of the variance in educational achievement.