Articles tagged with Single Nucleotide Polymorphisms
A new study from the University of Oklahoma suggests that small genetic differences in two proteins may influence how their eyes develop, affecting the risk of retinopathy of prematurity (ROP). Researchers found four genetic variants specific to eye disease, with two protective and two increasing the risk. Early genetic testing could h...
Dr Oliver Pain develops GenoPred platform advancing personalized mental healthcare worldwide through accessible genetic tools, democratizing access to cutting-edge genomic methodologies. His work aims to reduce global health inequities by developing inclusive polygenic scoring methods that perform accurately across all ancestry groups.
A substantial genetic component shapes dental caries etiology, with polygenic mechanisms and epistatic interactions across key biological pathways. Key genes like AMBN, ENAM, and MMPs influence tooth mineralization, while TAS2R38 and TAS1R3 impact taste sensitivity and sugar preference.
A recent study reveals that a specific genetic variation affects the adherence of an anaerobic bacterium to tumor cells, promoting colorectal cancer progression. The study highlights the complex dynamics between host genetics and intratumoral microbiota in CRC progression.
Researchers used genetic method Mendelian randomization to show high levels of fasting insulin cause reduction in Lp(a), rather than the other way around. Low Lp(a) is unlikely to be a risk factor for type 2 diabetes, independent of pre-existing hyperinsulinaemia and insulin resistance.
A new liquid SNP chip, HbGBTS80K, has been developed to accelerate functional studies and molecular breeding in rubber trees. The chip accurately identifies the major gene HbPSK5 associated with laticifer rings, enhancing genetic diversity analysis and GWAS.
Researchers combined DNA markers from two genotyping systems to improve genomic predictions and GWAS for 24 fruit traits. The results showed increased accuracy and detection power when using combined datasets, suggesting benefits to leveraging historical data.
Researchers linked red/processed meat consumption to increased colorectal cancer risk, highlighting two genetic markers (HAS2 and SMAD7) that alter cancer risk levels based on meat intake. The study analyzed data from nearly 70,000 people and found a 30-40% increased risk for those with high red or processed meat intake.
A study of nearly 500,000 participants found that smoking shortens telomere length in white blood cells, a indicator of aging and cell regeneration. The more cigarettes smoked, the stronger the shortening effect, suggesting a link between smoking and accelerated aging.
Researchers found that genetic predisposition to lipids, Alzheimer's, and heart disease in the MLXIPL gene locus is shaped by exogenous exposures. Minor alleles of certain variants associated with high triglyceride levels and lower HDL-C levels, which may provide protective effects against Alzheimer's risk.
A North Carolina State University-led study found that household dust can contain DNA from residents and non-occupants over 90% of the time. This could aid investigators in finding clues in difficult cases, particularly in establishing ancestry and physical characteristics.
A new molecular testing device has been developed to identify individuals with high hypnotizability, who are most likely to benefit from hypnosis interventions for pain treatment. The test detected a subset of highly hypnotizable individuals with high levels of postoperative pain.
Researchers identified genetic variants associated with susceptibility to Epizootic Hemorrhagic Disease (EHD) in white-tailed deer. The study found that deer with specific mutations are less susceptible to the disease, which has been on the rise in northern Illinois and neighboring states.
Researchers used machine learning to predict sugarcane yield based on DNA. The technique improved accuracy by over 50% compared to traditional breeding methods.
A study reveals that domesticated banana varieties contain traces of three unknown wild ancestors, which were likely hybrids between subspecies and may hold useful traits such as parthenocarpy. The researchers believe these 'mystery ancestors' might still be alive in the wild, particularly in regions including the Gulf of Thailand, Bor...
Researchers at Tokyo Medical and Dental University discovered a genetic variant associated with a poorer prognosis of chronic hypersensitivity pneumonitis. The variant, rs5743899, was linked to increased immune activation and fibrosis, leading to reduced lung function in patients.
Researchers discovered azole-resistant Aspergillus fumigatus strains isolated from a tulip bulb have genetic recombination and resistance to multiple fungicide classes. Plant bulbs serve as an ideal niche for the pathogens to evolve their resistance, posing a global health threat.
Dr. Kiana Aran's new technology, CRISPR-SNP-chip, detects single nucleotide polymorphisms without amplification, revolutionizing genetic research and diagnostics for diseases like Sickle Cell Disease and ALS.
Researchers at Penn State developed a new statistical tool, MAMBA, to enhance replicability of large genomic datasets. The method estimates the probability that an experiment can be replicated with different individuals, mitigating the reproducibility crisis.
A large-scale study published in the BMJ found that genetic testing technology widely used by commercial companies is unreliable in detecting very rare variants. The study analyzed data from nearly 50,000 people and found that the technology produced false positive results for rare disease-causing genetic variants in over 80% of cases.
A new statistical method called GLIMPSE allows for the inference of complete human genomes from small amounts of data, providing a cost-effective alternative to current approaches. This enables researchers to analyze understudied populations and uncover associations in complex traits such as Alzheimer's disease, cancer, and obesity.
Scientists at Tokyo Institute of Technology create alloyed metal nanoparticles using the atom hybridization method, achieving superior catalytic activity and stability. The sub-nanoparticles (SNPs) exhibit high reactivity even under mild conditions, producing unique compounds and hydroperoxides.
Researchers at Children's Hospital of Philadelphia have identified a genetic variation responsible for driving IBD development. The study found that the rs1887428 SNP alters gene expression in the JAK2 pathway, which is also targeted by immunotherapies.
A common genetic variant on the 5p15.33 locus is associated with a high risk of stroke in childhood cancer survivors who received cranial radiation therapy (CRT). The study found that survivors who carried this variant had nearly three times the risk of developing stroke compared to those without it.
Researchers developed a computational method to link individuals in ancestry databases to those in law-enforcement databases, achieving accurate matches for over 30% of close relatives. The approach could have significant implications for forensic genetics and genomic privacy.
Researchers found a specific single nucleotide polymorphism (SNP) associated with COPD and linked to the HLA-C gene, which presents proteins to immune cells. This discovery suggests a genetic link between autoimmune disease and COPD.
Researchers have developed a novel statistical method called AA9int to evaluate gene-to-gene interactions associated with cancer and other complex diseases. This approach identifies combinations of genetic variants for predicting cancer risk and prognosis, increasing our understanding of the biological mechanisms of cancer development.
A team at the University of California San Diego has developed a wireless chip that can detect genetic mutations, including single nucleotide polymorphisms (SNPs), in real-time. The chip is at least 1,000 times more sensitive than current technology and could lead to cheaper, faster, and portable biosensors for early disease detection.
Researchers developed a nanomaterial treatment that strengthens aging canvas fibers and surface, increasing flexibility. This alternative method could replace conventional treatments, helping preserve iconic artworks like Van Gogh's paintings.
Researchers at Wyss Institute for Biologically Inspired Engineering at Harvard developed a new genetic analysis technique that harnesses natural barcodes in human genomes. This allows for faster, cheaper, and simpler tracking of cell identities across experiments, enabling large pools of cells from multiple people to be analyzed.
Researchers at Kyoto University developed a gene editing method called MhAX, which creates genetically matched stem cell 'twins' for studying disease-related mutations. The technique guides the cell's own repair mechanisms and allows for precise removal of reporter genes, leaving only the modified SNP behind.
Researchers have pinpointed a single genetic code variation in African Salmonella that enables its virulence, contributing to devastating bloodstream infections. The discovery has implications for understanding and combating this dangerous strain of bacteria.
African Salmonella's deadly epidemic is caused by a specific genetic change, known as a SNP, which helps the bacteria survive in the human bloodstream. The discovery could lead to new insights into other pathogens and pave the way for a vaccine against this devastating infection.
Researchers from MIT and Indiana University developed a new system to protect genomic database privacy through differential privacy. The system adds noise to query results, making it difficult for attackers to extract private information.
Researchers developed an electrical graphene chip capable of detecting DNA mutations at high resolution. The technology could be used in various medical applications such as blood-based tests for early cancer screening and real-time detection of viral and microbial sequences.
The study confirms 13,000 previously mapped SNPs and newly maps 2,190 unique SNPs to improve drought tolerance, greenbug and wheat curl mite resistance. The research aims to develop high-yielding wheat varieties with improved resilience to stressors across different climates.
A research group has designed the first ever SNP array optimized for the Japanese population, covering the whole-genome region from which SNPs possessed by Japanese people can be obtained with high accuracy. The Japonica Array offers improved genotype imputation accuracy, accelerating personalized healthcare and medicine research.
Researchers have identified a gene associated with susceptibility to adolescent idiopathic scoliosis. The BNC2 gene is linked to increased expression of protein BNC2, which regulates YY1. Studies found that the gene variation leads to higher BNC2 production in genes with the variant, contributing to the development of scoliosis.
African American mothers who smoke and have a specific genetic profile are more likely to conceive twins. The study found that the presence of a TP53 gene variant is crucial in 'twinning'. Researchers discovered a significant interaction between smoking and this genetic factor, leading to an increased likelihood of having twins.
Researchers discovered a genetic variation, STK11 SNP, significantly increasing the risk of developing multiple sclerosis in women. The study involved three sisters among five siblings with MS and found the variant to be prevalent in 7% of the general population.
A research group at Biocenter Oulu in Finland has identified a mechanism related to a transcription factor that binds strongly onto a particular SNP variant, initiating a genetic programme enhancing prostate cancer proliferation and metastasis. The study used DNA samples from tens of thousands of prostate cancer patients and healthy me...
UC Riverside plant geneticists Mikeal Roose and Timothy Close are developing a genetic tool to improve citrus breeding. They will use high-density SNP genotyping arrays to study citrus varieties and hybrids, identifying genes for disease resistance, fruit quality, and other essential traits.
A genetic variation that enhances p53's activity has been identified as a common mutation increasing the risk of testicular cancer in light-skinned individuals. This SNP, named KITLG p53 RE SNP, was positively selected in Caucasian gene pools due to its potential protective effect against UV radiation-induced skin damage.
A study found that a single nucleotide polymorphism in the BDNF gene leads to shrinkage of neurons from the hippocampus, reducing connectivity between brain cells. The discovery offers mechanistic insight into why some depression and anxiety runs in families.
Researchers from RIKEN Center for Life Science Technologies identified a genetic mutation associated with improved survival rates in lung cancer patients who do not smoke. The mutation affects the NRF2 gene, which protects cells from oxidative stress.
Researchers used genome-wide array analysis to find that parents of affected children often have previously undetected genetic abnormalities. These abnormalities can increase the risk of having another affected child, and understanding them can help provide better genetic counseling.
A meta-analysis of over 100,000 DNA samples identified variants in two dozen previously unknown height genes, as well as confirmed associations with 30 known height genes. The study used a dense gene chip to discover genetic variants linked to complex traits and diseases.
A high-resolution microarray has shed new light on Anopheles gambiae populations, revealing the genes that enable mosquitoes to adapt to insecticides and other preventive measures. This breakthrough provides powerful new insights into the genetics of malaria vectors, supporting public health efforts to contain and eliminate the disease.
Researchers found a single SNP, rs36498, associated with higher asthma susceptibility in two populations. The mutation may increase eosinophils, leading to asthma attacks. Further study is needed to understand the role of Siglec-8 gene mutations in asthma.
Scientists at Stanford University School of Medicine have found that pairs of autoimmune diseases are linked in clinical practice and can be attributed to specific genetic variations known as SNPs. The researchers identified 15 key SNPs that predispose individuals to multiple autoimmune diseases, while also protecting them against others.
A new study uses genome sequencing to profile genetic diversity among M. ulcerans isolates, showing clonal relationships but distinct single nucleotide polymorphisms. The findings suggest a focal transmission pattern for Buruli ulcer, with local genetic variants not quickly spread over long distances.
A study published in JNCI found that carrying one allele of SNP 2q35-rs13387042 increases the risk of breast cancer, particularly in ER-positive and -negative cases. The association was observed in over 31,000 women with invasive breast cancer and those without the disease.
Researchers have designed tiny RNA molecules that can reduce production of the damaging Huntingtin protein in nearly half of people with the disease. An additional set of four small interfering RNAs may benefit an additional 25 percent of patients.
A new genetic 'hotspot' for breast cancer susceptibility has been found on chromosome 6 in Asian women. This genetic locus may help guide efforts to identify specific genes linked with sporadic forms of the disease.
Researchers have made significant progress in defining the genetic signature of Alzheimer's disease, a complex neurodegenerative disorder. The study identified a new SNP on chromosome 12q13 and confirmed the known apolipoprotein E association, revealing that 50% of the genetic risk effect remains unexplained.
Scientists identified two SNPs in the LOXL1 gene that confer high risk of exfoliation glaucoma, a devastating eye disease. The variants account for virtually all cases of the condition, offering a promising target for therapy and potential elimination of the disease.
Researchers identified a new genetic risk factor associated with late-onset Alzheimer's, implicating the SORL1 gene. Variants of this gene are linked to an increased risk of Alzheimer's, particularly in Caucasians, and may play a role in the production of toxic amyloid-beta fragments.
Researchers at Yale University have found a gene variant that increases the risk of developing aggressive 'wet' age-related macular degeneration, the most common cause of blindness in people over 50. The study found a single nucleotide polymorphism (SNP) in the HTRA1 gene on chromosome 10 associated with greatly increased risk of wet AMD.
A whole-genome study at Johns Hopkins reveals a new gene, NOS1AP, associated with abnormal heart rhythm and increased risk of sudden cardiac death. Approximately 60% of European descent individuals carry a variant of this gene linked to QT interval length.
Nanosphere's nanoparticle-based technology allows for rapid and highly-sensitive single nucleotide polymorphism genotyping without gene amplification. The technology can detect a specific gene and its mutation extent with greater than 99 percent confidence threshold.