Articles tagged with Genome Wide Association Studies
UK child psychiatrist Sir Michael Rutter reviews the latest scientific developments in autism research, covering clinical features, genetics, environmental factors, and psychological treatments. Despite substantial gains in knowledge, prevention and cure remain major puzzles in autism research.
Researchers found a rare genetic glitch in patients with schizophrenia that could lead to improved treatments. The VIPR2 gene mutation was linked to overactive VIP activity, which can impact brain development and learning, offering potential targets for new therapies.
Researchers have identified a genetic variation linked to bipolar disorder, suggesting that Piccolo contributes to the condition. The study used postmortem tissue and genome-wide association studies to find this link.
Researchers at the University of California, San Diego, develop novel method to detect long-distance chromosomal interactions and find association with CAD risk from altered inflammatory signaling response. The study identifies 33 regulatory elements in the 9p21 interval involved in cellular signaling and response to inflammation.
A new study couples a complex genetic screening technique in humans with functional validation of results in flies to study human disease. The strategy has the potential to be an effective approach for understanding complex disorders, such as Alzheimer's disease.
Researchers have identified five additional genetic variations that contribute significantly to Parkinson's disease risk, with 20% of patients carrying high-risk variants being two-and-a-half times more likely to develop PD. The study highlights the importance of common genetic variation in the development of this debilitating condition.
Researchers found that a single DNA variation helps protect African-Americans from coronary artery disease, with those having the alternative genetic code having a fivefold reduction in artery narrowing or clogging. The protective effect is even more pronounced when individuals inherit two copies of the guanine gene variant.
A new study identifies genetic variants associated with coronary artery disease (CAD) and heart attacks. The researchers found that certain genetic profiles increase the risk of CAD and heart attacks in individuals with CAD, while blood group O offers protection against heart attacks.
A team of international researchers led by Daniel J. Rader will investigate the molecular mechanisms of six novel genes associated with heart disease. The five-year study aims to identify new potential therapeutic targets and establish an infrastructure for systematic evaluation of future genetic association studies.
Researchers at Mayo Clinic have identified a gene variant that appears to protect against frontotemporal lobar degeneration (FTLD) in high-risk individuals with progranulin mutations. The study found that carrying two copies of the protective TMEM106B allele delays or prevents FTLD onset, suggesting it may increase progranulin levels.
Researchers identified DNA sequence variations associated with abnormal heart rhythms in multiple regions of the human genome. The study found links between these variations and increased risk for sudden cardiac death and heart damage.
Researchers found a genetic difference in TEP1 gene conferring resistance to human malaria parasites in one of two emerging Anopheles gambiae species, M and S. The study suggests that this resistance could impact malaria transmission efforts.
A study found that primate immune system differences explain why humans are more susceptible to certain viral infections, such as HIV and hepatitis B. Genomic comparisons revealed unique gene expression patterns in humans compared to chimpanzees and rhesus macaques.
Researchers found a duplicated region of DNA on chromosome 5 predisposes people to major depression, implicating disruptions in neurotransmission networks. The study identified 12 copy number variations exclusive to MDD cases, with a large duplication of the SLIT3 gene contributing to the risk.
The National Eye Institute has expanded its genetic and clinical research database by adding more than 72,000 lens and fundus photographs from the Age-Related Eye Disease Study (AREDS). These images are now accessible to scientists through NCBI's online database of Genotypes and Phenotypes, dbGaP.
Scientists have discovered 30 new genes that control the age of sexual maturation in women, which also affect body weight regulation and fat metabolism. The study found associations between these genes and early menarche, as well as increased risk of health problems like obesity, type 2 diabetes, and cardiovascular disease.
Researchers found intriguing clues to genes associated with anorexia nervosa, including genes active in neuronal signaling and shaping interconnections among brain cells. The study also identified several rare CNVs that occurred only in AN cases, suggesting that both common SNPs and rare CNVs contribute to the disorder.
Mayo Clinic researchers discovered a connection between two proteins, progranulin and sortilin, which may lead to new treatment options for frontotemporal lobar degeneration. The study found strong associations between genetic variants in the same region of chromosome 1 and plasma progranulin levels.
Researchers tested genetic variations in 1,262 people with no history of heart disease and found that genetic scores can modify the estimated risk of heart attack. The study suggests that genetic screening may be most valuable for individuals thought to be at intermediate risk using current models.
A study of nearly 50,000 people has identified DNA sequence variations associated with cardiac electrical activity, which may lead to novel approaches to prevent or treat serious rhythm disorders. The findings provide new clues about the biologic pathways that influence cardiac conduction and identify genes and genetic pathways involve...
Researchers at Children's Hospital Boston identified a novel human pain gene, α2δ3, associated with different sensitivity to acute and chronic pain. Minor variations in this gene were found to be linked to reduced pain sensitivity, while certain polymorphisms were also associated with increased risk of chronic pain.
Researchers at the Allen Institute have published a comprehensive study on the effects of sleep deprivation on gene expression in the mouse brain. The findings reveal novel genes and brain areas affected by sleep deprivation, providing potential targets for therapeutic intervention.
A recent study published in PLoS Genetics has identified genetic variants that may modify the risk of breast cancer in women with BRCA2 mutations. The research found that variants near the ZNF365 gene decreased breast cancer risk by approximately 25 percent, while other variants like FGFR2 increased risk.
Two strains of the Anopheles gambiae mosquito are becoming genetically distinct, potentially rendering current control methods ineffective against one strain. The research highlights the need for targeted strategies to monitor and adapt to these genetic changes.
A genome-wide association study of 2,622 patients with psoriasis and 5,667 healthy individuals has identified six regions of the genome associated with the condition. The study found evidence for an interaction between two associated regions – HLA-C and ERAP1, providing new insights into psoriasis susceptibility.
Researchers identified 17 copy number variations associated with childhood obesity, exclusive to obese children across two ethnicities. The study adds to the evidence that genes play a strong role in childhood obesity, highlighting potential genetic influences for prevention and treatment.
Researchers identified multiple genetic mutations associated with childhood obesity, including deletions and duplications of specific genes. The study reveals unique genetic profiles exclusive to two ethnicities, offering new insights into the complex biology underlying childhood obesity.
Researchers identified biomarkers associated with radiation response that could help tailor individual cancer treatments. The study employed a pharmacogenomics approach, integrating genome-wide data to find genetic variants and gene expression patterns linked to radiation response.
A global team of scientists, led by Albert Einstein College of Medicine researcher Robert Kaplan, has identified hundreds of gene variants that influence adult height. The study, which analyzed data from nearly 184,000 people worldwide, proves the effectiveness of genome-wide association studies in explaining observable traits.
A large international study has identified hundreds of genes contributing to human height, revealing that a combination of multiple genes determines an individual's stature. The research points the way for future studies exploring how these genes interact to impact growth and development.
A collaborative study identified 180 genetic loci influencing height, clustered around genes in six biological pathways. The findings shed light on the complex genetics of height and its relationship to other traits.
A genome-wide association study has identified a gene, MTHFD1L, associated with an increased risk of late-onset Alzheimer's disease. Individuals with a particular variation in this gene may be twice as likely to develop the disease.
A consortium of cancer researchers has identified four chromosome locations with genetic changes that may alter a woman's risk of developing ovarian cancer. These findings are based on a large genome-wide association study and could lead to individualized risk assessments for ovarian cancer.
Researchers identified five genetic variants associated with increased breast cancer risk in BRCA1 carriers, including those related to estrogen-receptor-negative and triple-negative disease. These findings may help identify individuals at lower or higher risk of cancer, enabling tailored cancer prevention strategies.
Researchers at VCU have identified a potential risk gene for schizophrenia, CMYA5, associated with cardiomyopathy. The study involved over 33,000 participants and verified the findings through multiple independent samples.
A team of researchers from Mayo Clinic used electronic medical records (EMRs) to launch a genome-wide association study of peripheral arterial disease (PAD), which affects approximately eight million Americans. The study demonstrates the feasibility of leveraging EMRs for genetic research, offering advantages over traditional approaches.
Studies confirm a region of chromosome 9 is associated with an increased risk of ALS across multiple populations. Genetic variations identified in the Finnish population contribute to familial and sporadic cases, suggesting a strong genetic link. The study provides new insights into the causes of ALS.
Scientists at Nationwide Children's Hospital have discovered a distinct blood transcriptional signature associated with active TB, which may help identify patients at risk of developing the disease. The study found that this signature was present in 10-20% of latent TB patients and correlated with disease extent in active TB patients.
Researchers have discovered a genetic risk factor associated with common types of migraine, revealing a potential explanation for the link. A DNA variant on Chromosome 8 regulates glutamate levels in nerve cells, which may play a key role in migraine attacks.
A genome-wide association study has revealed a strong link between a gene in the human leukocyte antigen region and Parkinson's disease, implicating the immune system. The study suggests that inflammation is involved in the origin of the disease, not just a symptom.
Researchers found that gene variants associated with type-1 diabetes and rheumatoid arthritis confer previously unknown benefits to their human carriers. This suggests that the human race may be evolving towards greater susceptibility to complex diseases.
Researchers identified a genetic variant on chromosome 18 associated with increased TB susceptibility in African populations. The study demonstrates the feasibility of genome-wide association studies in Africa, which have been successful in European populations but faced challenges due to high genetic diversity.
A genome scan has identified a gene, Sort1, that regulates LDL-C levels and is associated with heart disease. The study found that increasing liver sortilin protein reduced plasma cholesterol and may provide a new target for treating cardiovascular disease.
Researchers discovered 95 gene loci associated with lipid metabolism, including factors like cholesterol and triglycerides. The findings may lead to new treatments for coronary artery disease, as genetic variants offer molecular targets for cholesterol-lowering drugs.
The study analyzed DNA from over 100,000 people worldwide and found 95 genetic variants contributing to high cholesterol and triglyceride levels. The findings provide new clues for developing effective medicines to combat heart disease.
A study published in JAMA found that a genetic risk score is strongly associated with an increased risk of breast cancer and can predict the type of disease. The researchers identified specific genes that have different effects on different subtypes of breast cancer.
A new study by Jorge Contreras explores the 15-year struggle over data-release decisions in human genome research, highlighting a balancing act between researchers' needs and data users' rights. The study's findings have implications for various scientific fields beyond genomics, including climate change and chemistry.
Researchers have identified associations with the HLA-B51 region of the MHC and variants on chromosome 1, including a known variant of the IL10 gene. These findings suggest that low levels of IL-10 protein may be a risk factor for Behcet's disease.
A genetic variant associated with increased expression of oncogene MYC has been identified in a gene desert, increasing prostate cancer risk. The study showcases a new protocol for studying cancer-risk variants in gene deserts and highlights the importance of regulatory sequences in controlling gene expression.
Researchers from Boston University identified 19 genetic clusters, or 'signatures,' associated with exceptional longevity in centenarians. These signatures correlated with differences in disease prevalence and age-of-onset, potentially helping identify subgroups of healthy aging.
Researchers discovered 12 new regions on the genome with DNA variants linked to type 2 diabetes, raising hopes for early detection and prevention. The study also revealed surprising overlaps between type 2 diabetes and non-related diseases.
23andMe's web-based research framework facilitates rapid recruitment of participants, reducing time and money needed for new discoveries. The study replicated several known genetic associations, including novel SNP associations for hair curl and freckling.
Researchers found a group of seven genes that significantly impact platelet clumping, offering new targets for developing diagnostic tests and treatments for arterial disease. The study used data from two large studies to identify the genetic factors behind blood clotting, providing insights into promoting healing and stalling disease ...
Researchers found rare variants in the SIAE gene that occur almost nine times more frequently in individuals with autoimmune disorders. These variants interfere with the enzyme's activity or secretion, potentially leading to an increased risk of conditions like rheumatoid arthritis and type 1 diabetes.
A study found that genetic variants and neuroimaging measures are associated with Alzheimer's disease risk, providing new insights into the condition's mechanisms. The research identified three new genetic loci linked to Alzheimer's disease, as well as two new targets for future study.
A genome-wide association study found three genetic variants significantly associated with vitamin D concentrations and risk of insufficiency. Participants with certain genotypes were at two-and-a-half times increased risk of having low vitamin D levels, highlighting the importance of genetic factors in regulating vitamin D status.
A recent study has found that Jewish people from different regions share a common ancestry and distinct genetic traits. The research provides detailed genetic maps of major Jewish subpopulations, which can help understand genetic links to diseases like heart disease, cancer, and diabetes.
Researchers have identified distinct Jewish population clusters with shared Middle Eastern ancestry and variable degrees of European and North African genetic intermingling. The study suggests that Jewishness can be identified through genetic analysis and highlights the importance of understanding the complex history of Jewish migrations.
Researchers found genetic risk factors for nasopharyngeal carcinoma (NPC) linked to HLA locus and three new genes TNFRSF19, MDSIEVI1, and CDKN2A/2B. The study advances understanding of NPC's role in southern China's high prevalence.
A new study found that genome-wide association studies (GWA) have identified several genetic risk factors for common cancers, but their predictive power is limited by small effect sizes. The study suggests that performing GWA studies using larger sample sizes would yield more genetic loci with smaller or very small effects.