Articles tagged with Genome Wide Association Studies
A Chinese research team found strong genetic evidence linking mevalonate kinase gene (MVK) mutations to disseminated superficial actinic porokeratosis (DSAP), a rare skin disorder. MVK mutations were not detected in other clinical subtypes of Porokeratosis, suggesting they may be specific to DSAP patients.
A study has identified five genes responsible for human facial morphology, with three previously implicated in vertebrate craniofacial development and disease. The remaining two genes are new players in the molecular networks governing facial development.
A recent study identified a gene linking age-related cataracts and Alzheimer's disease, suggesting common etiologic factors between the two conditions. The study found correlations between cortical cataract formation and brain degeneration measures, as well as poorer cognitive performance.
Researchers at Children's Hospital of Philadelphia have discovered two gene variants that increase the risk of neuroblastoma and promote its progression. These variants in HACE1 and LIN28B genes were found to exert opposite effects, with low expression of HACE1 and high expression of LIN28B correlating with worse patient survival.
Researchers identified protein cyclin D3 as regulating RBC production, affecting size and quantity. The protein's role was confirmed through experiments on mouse and human cells, shedding light on the control of RBC characteristics.
Researchers found that humans inherit more than three times as many mutations from their fathers as from their mothers. The study also suggests that the mutation rate in fathers doubles with age, while there is no association with mother's age. This new insight challenges theories of human evolution and sheds light on conditions such a...
Researchers mapped ant genomes to reveal relationship between epigenetic regulation and caste differentiation. DNA methylation patterns correlated with alternative splicing events and caste-specific genes.
Two GWAS studies have identified possible associations with genes related to obsessive-compulsive disorder (OCD) and Tourette syndrome. The studies found potential links to BTBD3, DLGAP1, COL27A1, and other SNPs, but further research is needed to confirm these findings.
Recent studies have discovered new negative regulators in Egfr signaling, explored whole-genome association mapping in yeast, and resolved the mutation load paradox in humans. Researchers also developed a method for identifying lethal alleles using next-generation sequencing.
Scientists have identified a new gene, RORA, linked to post-traumatic stress disorder (PTSD), suggesting that it may play a role in the development of the condition. The study found a significant association between variations in the RORA gene and PTSD, highlighting a potential new avenue for research on how the brain responds to trauma.
Researchers identified 12 genetic markers associated with sex hormone-binding globulin (SHBG) levels, which regulate testosterone and estrogen in the bloodstream. The study found that SHBG levels are influenced by multiple factors, including genes related to liver function, metabolism, and type 2 diabetes.
Researchers identified genetic markers influencing protein levels regulating oestrogen and testosterone in the bloodstream, near genes related to liver function and type 2 diabetes. These findings highlight an important connection between metabolic and reproductive systems in men and women.
Two genetic variants have been found to be associated with rapid weight gain in patients taking antipsychotic medications. These variations near the melanocortin-4 receptor (MC4R) gene may enable clinicians to identify which patients are at risk and choose strategies to prevent serious side effects.
Researchers developed a statistical method using phylogenetics to enhance GWAS studies, improving reliability and identifying consistently reproducible alleles. The new approach enhances personalized medicine by pinpointing reliable mutation correlates of complex diseases.
A study by 23andMe identified seven single-nucleotide polymorphisms (SNPs) associated with breast size, including three linked to breast cancer. The analysis controlled for age, ancestry, and other factors, providing insight into the genetic factors underlying normal breast development.
Researchers have identified eight new genetic variants associated with osteoarthritis, which could lead to future therapeutic intervention. The study suggests that inherited factors account for up to 60% of the risk, and the discovery provides insight into the genetics of arthritis.
A genome-wide association study identified several genes associated with hippocampal atrophy, a key feature of Alzheimer's disease. The study found novel associations between brain degeneration and genes in the APOE, F5/SELP, LHFP, and GCFC2 gene regions.
Researchers identified a genetic marker in the vitamin D receptor gene associated with improved overall survival rates among pancreatic cancer patients. The study's findings suggest that this genetic variation may play a role in the survival of patients treated for advanced pancreatic cancer.
A genome-wide association study published in PLoS Genetics found six new loci associated with early onset male pattern baldness, including unexpected links to Parkinson's disease. The study also identified a risk score predictive of hair loss based on genotypes at eight associated loci.
A new study has identified a genetic factor associated with lean type 2 diabetes patients, indicating that genetic predisposition may vary depending on body type. The 'Jack Spratt' gene is linked to an increased risk of the disease in lean individuals, contrasting with obese patients where other factors are more influential.
Scientists have identified four new genes that predispose people to the most common type of migraine, without aura. The study provides further evidence for the role of molecular signaling in migraine and opens new avenues for research into its causes.
A 38-year study found that children with higher genetic risk scores had higher BMIs from age 3 to 38, and were more likely to be obese in adulthood. Rapid childhood growth was also linked to increased obesity risk, regardless of family history.
A new study from the University of Exeter has identified a genetic predisposition to Type 2 diabetes in lean patients, contradicting the long-held assumption that obesity is the primary cause. The study found that genetic variants near the LAMA1 gene are linked to type 2 diabetes risk only in lean patients.
Researchers found that flies lacking a key gene associated with RLS exhibit sleep disturbances and restlessness, similar to human patients. The study suggests a genetic basis for RLS and offers new insights into the disease's pathophysiology.
A genetic marker, rs2036527, associated with smoking quantity has been found in African Americans, predicting the number of cigarettes smoked per day. This discovery may help guide public health decisions related to smoking and lung cancer risk.
Researchers identified 57 single nucleotide polymorphisms (SNPs) associated with an increased risk of autism in siblings of children with Autism Spectrum Disorder (ASD). The study used a combination of statistical and functional genomic data to predict the risk of autism in unaffected siblings.
A comprehensive list of genes associated with schizophrenia has been identified, enabling the development of a predictive test that can estimate an individual's risk of developing the disease. The test, which predicts schizophrenia risk in about two-thirds of cases, holds promise for early intervention and treatment.
A research team identified a comprehensive group of genes linked to schizophrenia and developed a prototype predictive test that can accurately assess an individual's risk of developing the disease. The test was able to predict schizophrenia risk in about two-thirds of cases, providing guidance for early intervention and treatment.
The BGI has completed the genome sequence of foxtail millet, a crop with significant potential for improving yield and stress tolerance. The study provides valuable resources for genetic improvement and functional gene studies at a genome-wide level.
A study published in Archives of General Psychiatry identified a gene, MC4R, that increases weight gain in patients treated with commonly-used antipsychotic drugs. Patients who carry the recessive variant of this gene gained up to 20 pounds during a 12-week trial.
Researchers found that Jarid2, a component of the Polycomb repressive complex 2, occasionally activates gene expression in fruit fly embryos. This challenges the traditional view of Polycomb proteins as transcriptional repressors, suggesting a more complex role for PRC2 and its components in development and cancer.
A genetic study has identified genes that may be responsible for the Western African Pygmies' relatively small size. The researchers found that genetic mutations in certain pathways govern reproductive hormone activation and growth hormone regulation, which could be linked to early reproduction as an adaptation to their environment.
A new study identifies genes responsible for the Pygmies' relatively small size, suggesting hormonal pathways and immune system regulation as possible drivers. The research provides evidence of natural selection's role in shaping human traits, highlighting the importance of studying global diversity and evolutionary contexts.
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 large international study has found that certain versions of four genes may speed up the shrinkage of the hippocampus, a brain region involved in making new memories. The research suggests that these gene variants may increase vulnerability to Alzheimer's disease by accelerating hippocampus shrinkage.
Researchers have identified 32 previously unidentified genetic regions associated with osteoporosis and fracture, suggesting the combined contributions of dozens of genes. The study also highlights the complexity of the genetic architecture of disease and the need for larger studies to identify genes important in disease.
The study found five significant genetic associations for hypothyroidism, including rs6679677 near PTPN22 and rs925489 near FOXE1, which contribute to understanding the underlying biology of the disease. The results also highlight potential pathways of treatment for autoimmune diseases.
Researchers have identified two new gene variants linked to an increased risk of common childhood obesity, highlighting a genetic predisposition to the condition. The study analyzed data from over 5,500 cases of childhood obesity and found novel loci associated with the disease.
Researchers have discovered gene variations that predispose cystic fibrosis patients to develop an intestinal blockage while still in the uterus. These variants involve genes responsible for ion transport in the lower end of the small intestine, increasing the risk of meconium ileus and serious health problems.
A genome-wide association study reveals eight genetic variants linked to podoconiosis, a painful inflammation of the lower extremities caused by volcanic dust exposure. Wearing shoes can prevent the disease, and those with the gene variants are up to 3 times more likely to become affected.
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 Brigham and Women's Hospital researchers has developed a statistical method to estimate the heritable component of four common diseases. The study found that hundreds of loci with common causal variants explain most of the risk for these diseases, not rare mutations.
Researchers have identified a specific gene linked to throat cancer in a family study. A mutation in the ATR gene was found to be present in all members of the affected family who developed throat cancer.
A collaborative study identified 5 novel genetic variation regions linked to Crohn's disease in Ashkenazi Jewish individuals, which have a two-to-four times higher prevalence compared to non-Jewish Europeans. These findings could lead to the discovery of new treatments for this debilitating disorder.
A large-scale genomic study in Bangladesh has found genetic variants that increase the risk of skin lesions from arsenic exposure. The discovery could lead to new screening and intervention options.
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.
A large-scale genomic study in Bangladesh has identified genetic variants that increase the risk of skin lesions from chronic arsenic exposure. Variants near the enzyme responsible for metabolizing arsenic into a less toxic form were found, suggesting that individuals with these changes are more susceptible to arsenic-related disease.
Researchers analyzed six RNA binding proteins that control genetic splicing, discovering they work together to regulate thousands of genes. The study highlights the importance of these proteins in maintaining cell homeostasis and may offer clues for rational drug design.
A study presented at the Society for Maternal-Fetal Medicine's annual meeting demonstrated that massively parallel sequencing of maternal plasma DNA can detect all three most prevalent fetal aneuploidies. The test showed 100% sensitivity and specificity for trisomy 21 (Down syndrome) and high accuracy for other autosomal aneuploidies.
A large-scale genetic screening of over 17,000 individuals with Type 2 diabetes and 70,000 control subjects identified nearly 40 gene variants associated with the disease. The study found that many gene variants overlap across multiple ethnic groups, providing new insights into the biological targets for developing more effective drugs.
Researchers identified 31 genetic regions associated with circulating metabolites, including biomarkers for cardiovascular disease and type 2 diabetes. The study provides new insights into the biological processes leading to common diseases, suggesting that detailed data on multiple metabolites can help elucidate these processes.
A study found that individuals carrying a mutant gene associated with high HDL cholesterol can more efficiently clear triglycerides from their system. This discovery provides new insights into the role of glycosylation in lipid metabolism and has implications for the treatment of heart disease.
Researchers have identified 68 genetic variants involved in platelet formation, including a novel role for tropomyosin 1 in platelet production. The study found that genes associated with heart attacks and strokes overlap with those affecting platelets, offering potential new targets for treatments.
A study characterizes epigenetic signatures of autism in brain tissue, finding hundreds of genomic loci affected by altered histone methylation. The research provides new insights into the genetic and epigenetic risk maps of developmental brain disorders.
A genome-wide association study has identified the TBL1X gene as a novel candidate gene for autism spectrum disorder (ASD) in males. The study found an association between variations in the TBL1X gene and an increased risk of ASD, with an estimated 15% increase in risk.
Researchers have identified a human chromosome containing a specific gene associated with susceptibility to herpes simplex labialis (HSL), the common cold sore. The study found a positive link between the frequency of outbreaks, hereditability, and the presence of a specific gene, C21orf91, on chromosome 21.
A new study has identified 42 genetic regions associated with liver function, providing a better understanding of liver damage and disease. The research, involving over 61,000 people, may lead to new treatments that can improve liver function and prevent liver damage.
Researchers have identified two genetic variants associated with increased dengue susceptibility, offering clues to the body's response to infection. The study found changes in DNA code of MICB and PLCE1 genes that increase a child's risk of dengue shock syndrome.
A genome-wide association study found genetic variants associated with increased risk of low testosterone concentrations in men. The study, which pooled data from 14,429 Caucasian men, identified specific genes, including SHBG and X chromosome variants, linked to lower testosterone levels.