Genome wide genetic diseases disease susceptibility. Medical search. Frequent questions

To localize the regions containing genes that determine susceptibility to ankylosing spondylitis (AS). (nih.gov)
Nine of 118 affected sibling pairs (7.6%) did not share parental haplotypes identical by descent across the MHC, suggesting that only 31% of the susceptibility to AS is coded by genes linked to the MHC. (nih.gov)
The results of this study confirm the strong linkage of the MHC with AS, and provide suggestive evidence regarding the presence and location of non-MHC genes influencing susceptibility to the disease. (nih.gov)
Several single-nucleotide polymorphisms (SNPs) in candidate genes have been associated with disease risk, including F5 rs6025, F2 rs1799963, FGG rs2066865, and ABO genetic variants. (medscape.com)
Cancer was the top disease linked to the NET-associated genes. (frontiersin.org)
The tool, GASPACHO, captures dynamic changes in gene expression along the innate immune response, allowing researchers to identify genes and molecular pathways associated with disease risk that have previously been too complex to detect or interpret. (sanger.ac.uk)
The study, published in Nature Genetics (12 June), helps to unpick the relationship between specific genes, their expression levels, and their potential connection in disease susceptibility. (sanger.ac.uk)
Part of this variation may be down to differences in our genes, specifically differences in our genetic regulation of gene expression. (sanger.ac.uk)
These are like signposts in our DNA that indicate which genetic variations are linked to changes in the expression of certain genes, affecting how much or how little a gene is dialled up or down, leading to differences in the levels of proteins produced by that gene. (sanger.ac.uk)
The recent development of new high-throughput technologies for SNP genotyping has opened the possibility of taking a genome-wide linkage approach to the search for new candidate genes involved in heredity diseases. (biomedcentral.com)
The two major breast cancer susceptibility genes BRCA1 and BRCA2 are involved in 30% of hereditary breast cancer cases, but the discovery of additional breast cancer predisposition genes for the non-BRCA1/2 breast cancer families has so far been unsuccessful. (biomedcentral.com)
We identified six regions on chromosomes 2, 3, 4, 7, 11 and 14 as candidates to contain genes involved in breast cancer susceptibility, and additional fine mapping genotyping using microsatellite markers around linkage peaks confirmed five of them, excluding the region on chromosome 3. (biomedcentral.com)
This RFA is developed as part of the NIH-wide Genes and Environment Initiative. (nih.gov)
October 13, 2006 - See Notice NOT-OD-07-006, This notice is to inform potential applicants that investigators from the NIH Intramural Research Program (IRP) will be eligible to participate in the NIH-wide Genes and Environment Initiative (GEI). (nih.gov)
It includes support for sharing the samples and data and analyzing the resulting data as part of the NIH-wide Genes and Environment Initiative (GEI). (nih.gov)
Recent advances in genetics and genomics have led to the identification of hundreds of new genetic variants and genes associated with an increased risk of eye diseases. (frontiersin.org)
Genome-wide association studies have described several genes as genetic susceptibility loci for Alzheimer's disease (AD). (gencat.cat)
A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer. (ox.ac.uk)
The breast cancer risk variants identified in genome-wide association studies explain only a small fraction of the familial relative risk, and the genes responsible for these associations remain largely unknown. (ox.ac.uk)
To identify novel risk loci and likely causal genes, we performed a transcriptome-wide association study evaluating associations of genetically predicted gene expression with breast cancer risk in 122,977 cases and 105,974 controls of European ancestry. (ox.ac.uk)
Complex diseases such as BRDC involve the influence of many genes and are by definition hard to predict. (extension.org)
The fact that so many regions of interest were identified supports the idea that many genes are associated with susceptibility to this complex disease. (extension.org)
For nearly 2,000 years, traders used this 4,000-mile network linking the Far East with Europe to exchange goods, culture and, in the case of the Silk Road disease, genes. (nih.gov)
Indeed, in some cases, HLA genes are more highly related to lupus-associated autoantibodies than to the disease itself. (medscape.com)
A genome-wide study in a northern European population replicated the association of SLE with susceptibility genes related to B-cell receptor pathway signaling, as well as confirmed the association of SLE with genes at the interferon regulatory factor 5 (IRF5)-TNPO3 locus. (medscape.com)
There is an extensive genetic overlap between schizophrenia and smoking, but there are also schizophrenia genes that may protect against obesity , illustrating the bidirectional effects of shared loci across cardiovascular disease (CVD) risk factors, results of new research suggest. (medscape.com)
Candidate gene studies represent the most common form of genetic association study performed to find asthma-susceptibility genes. (medscape.com)
These studies focus on genes thought to contribute to the pathobiology of a disease and are therefore unlikely to identify novel biology. (medscape.com)
Although they only minimally advance the field, studies such as these are the most commonly performed scientific investigation of asthma-susceptibility genes. (medscape.com)
[ 2 ] These genes are thought to be involved in atopy, bronchial hyperresponsiveness, elevated IgE levels, and other asthma-related traits, although the effect of each gene on asthma susceptibility seems to be small. (medscape.com)
[ 10 ] All of the genes identified seemed to support a role for disordered inflammatory/immunologic responses, but the precise mechanism and impact of each gene on asthma susceptibility has yet to be elucidated. (medscape.com)
HLA-DR, HLA-DQ, and TAP genes in familial Hodgkin disease. (medscape.com)

After excluding the 20 PDAC susceptibility regions (±500 kb) previously identified by GWAS, the genomic regions for ulcerative colitis, Crohn disease, and inflammatory bowel disease remained associated with PDAC (P = 0.0029, 0.0057, and 0.0098, respectively). (upf.edu)
We performed a genome-wide association study (GWAS) and exome-sequencing analysis to identify common and rare genetic variants associated with plasma myeloperoxidase (MPO)-DNA complex levels, a biomarker for NETs, in the population-based Rotterdam Study cohort. (frontiersin.org)
Genome-wide association studies (GWAS) and exome-sequencing analysis have been successfully implemented as approaches to identify genetic variants associated with disease susceptibility. (frontiersin.org)
While genome-wide association studies (GWAS) have identified numerous disease-associated variants involved in gene expression, implicating the involvement of eQTLs, they are unable to show any causal relationships. (sanger.ac.uk)
There is a heritable component associated with chronic kidney disease, as established by genome-wide association studies (GWAS) and GWAS meta-analyses. (news-medical.net)
Genome-wide association studies (GWAS) are designed to investigate and quantify genetic variant-disease associations. (frontiersin.org)
To identify additional RCC common susceptibility loci, we conducted an independent genome-wide association study (GWAS). (ox.ac.uk)
Genome-wide association studies (GWAS) identify disease-associated variants by comparing hundreds of thousands of affected and unaffected individuals. (ukbiobank.ac.uk)
To overcome GWAS challenges associated with non-coding variants, the need for repeated testing for different populations, and to address the massive increase in sample size required to determine if variants are disease-associated, we have developed new exploratory models which identify key disease variants, and novel PRS models which incorporate several levels and types of functional information, and phenotypic and genotypic data. (ukbiobank.ac.uk)
Genome-wide association studies (GWAS) have identified hundreds of genetic variants that increase a person's susceptibility for complex diseases. (vumc.org)
The investigators used gamGWAS to analyze two existing schizophrenia GWAS datasets from the International Schizophrenia Consortium and the Genetic Association Information Network. (vumc.org)
This approach is called a Genome-Wide Association Study (GWAS). (extension.org)
Researchers conducted a genome-wide association study (GWAS) that enrolled 1,209 Turkish people affected by Behcet's disease and 1,278 unaffected Turkish people - all residents of the country. (nih.gov)
Genome-wide association studies (GWAS) have detected several loci associated with CVD risk factors, including body mass index (BMI), waist-to-hip ratio, type 2 diabetes , lipids , and blood pressure, with increasing evidence suggesting genetic overlap between such risk factors and schizophrenia. (medscape.com)
Genome-wide association studies (GWAS) have now identified 235 inflammatory bowel disease (IBD)-associated susceptibility loci, substantially expanding our understanding of the biology underlying these diseases. (medscape.com)
[ 8 , 9 ] Early genetic studies focused on searching protein coding sequences, although it is now recognised that coding variation explains only ~20% of genetic variation associated with IBD GWAS loci. (medscape.com)
Genome-wide association studies (GWAS) survey single nucleotide polymorphisms (SNPs), or specific genetic variations, across the entire genome. (medscape.com)
Thus, unlike the candidate gene studies, GWAS are adequately powered to discover common genetic variations associated with complex disorders such as asthma. (medscape.com)
The initial GWAS in asthma incorporated a unique approach by combining gene expression with genetic association to find ORMDL3 , a novel locus on chromosome 17q21. (medscape.com)
In this study, 28 SNP associations from the discovery GWAS were replicated, and of these, rs6475448 achieved genome-wide significance. (medscape.com)

Dr. Allenspach has recently identified genetic markers known as SNPs (single nucleotide polymorphisms) which she believes contribute to disease susceptibility. (pwdfoundation.org)
They looked at many points on the human genome called single-nucleotide polymorphisms (SNPs), with each SNP representing a difference in a single DNA building block, called a nucleotide. (nih.gov)

Among the 42 known genome-wide significant loci for CAD, 3 and 5 loci were significantly associated with IS and LAS, respectively. (ox.ac.uk)
We identified four genome-wide significant loci, none of which showed any association with disease susceptibility. (ox.ac.uk)

Patients who have had VTE have a genetic predisposition due to molecular abnormalities in the components of the coagulation cascade. (medscape.com)

Cross-ancestry genome-wide meta-analysis of 61,047 cases and 947,237 controls identifies new susceptibility loci contributing to lung cancer. (who.int)
A genome-wide association study of Hodgkin's lymphoma identifies new susceptibility loci at 2p16.1 (REL), 8q24.21 and 10p14 (GATA3). (medscape.com)

5×10(-8)) for the combined phenotype of IS or CAD and 17 loci passed genome-wide significance for LAS or CAD. (ox.ac.uk)

METHODS:Genome-wide association data were obtained from the METASTROKE, Coronary Artery Disease Genome-wide Replication and Meta-analysis (CARDIoGRAM), and Coronary Artery Disease (C4D) Genetics consortia. (ox.ac.uk)

To better characterize how genetic variation influences disease prognosis, we performed a within-cases genome-wide association study in two cohorts of patients with Crohn's disease. (ox.ac.uk)
There exists a wide variation in how people respond to COVID-19. (sanger.ac.uk)
Genome-wide eQTL mapping however, has shown potential in revealing underlying genetic mechanisms of variation in disease outcomes. (sanger.ac.uk)
They employed a novel approach to show how genetic variation within cells affects the overall immune response across individuals. (sanger.ac.uk)
Genetic variation in the KIF1B locus influences susceptibility to multiple sclerosis. (ox.ac.uk)
Analysis of genetic variation in the bovine SLC11A1 gene, its influence on the expression of NRAMP1 and potential association with resistance to bovine tuberculosis. (omia.org)
We plan to evaluate and refine conceptually new statistical and computational methods that improve imputation performance of rarer variation, thus driving identification of additional disease-associated variants and improving disease risk estimation. (ukbiobank.ac.uk)
FAVOR: functional annotation of variants online resource and annotator for variation across the human genome. (harvard.edu)
There was a pattern of mixed effect directions among loci jointly associated with schizophrenia and lipids, blood pressure, type 2 diabetes, waist-to-hip ratio, and coronary artery disease , which may reflect variation in genetic susceptibility to CVD across subgroups of schizophrenia. (medscape.com)

Genome-wide association study identifies distinct genetic contributions to prognosis and susceptibility in Crohn's disease. (ox.ac.uk)
Here, we are the first to apply these approaches to ascertain common and rare genetic variants associated with NETs using data from a population-based cohort study. (frontiersin.org)
Wang Z, Lu Y, Fornage M, Jiao L, Shen J, Li Donghui , Wei P . Identification of novel susceptibility methylation loci for pancreatic cancer in a two-phase epigenome-wide association study. (mdanderson.org)
According to a longitudinal study between 1995 and 2003 in the United States, nearly 23% of dialysis patients were found to have close relatives with early-stage renal disease. (news-medical.net)
However, the recent development of new high-throughput technologies for SNP genotyping has opened up the possibility of taking a genome-wide approach to study polymorphisms quickly and economically. (biomedcentral.com)
Therefore, we have conducted a linkage study with 4.720 SNPs across the genome in nineteen BRCAX families to identify candidate regions containing BRCAX gene(s). (biomedcentral.com)
In order to find all underlying genetic factors that could contribute to disease, they propose to perform a genome-wide association study. (pwdfoundation.org)
The study was wavied by the IRB of the First Affiliated Hospital of Xi'an Jiaotong University due to all the data used in this study were from the Global Burden of Diseases (GBD) 2019 database. (wjgnet.com)
There was no requirement to give informed consent in this study, because all the data used in this study were from the Global Burden of Diseases (GBD) 2019 database. (wjgnet.com)
Bunai T, Terada T, Kono S, Yokokura M, Yoshikawa E, Futatsubashi M, Miyajima H, Ouchi Y.: Neuroinflammation following disease modifying therapy in multiple sclerosis: A pilot positron emission tomography study. (hama-med.ac.jp)
A genome-wide association study identifies a novel susceptibility locus for renal cell carcinoma on 12p11.23. (ox.ac.uk)
Genome-wide association study in Mexican Holstein cattle reveals novel quantitative trait loci regions and confirms mapped loci for resistance to bovine tuberculosis. (omia.org)
Risk assessment for acute kidney injury and death among new COVID-19 positive adult patients without chronic kidney disease: retrospective cohort study among three US hospitals. (harvard.edu)
The results of the dairy study showed moderate (~ 0.21) heritability estimates for BRDC susceptibility in pre-weaned Holstein calves. (extension.org)
The current study represents an important advance because it dramatically broadens the spectrum of genetic loci associated with Behcet's disease," said Dan Kastner, M.D., Ph.D., scientific director of the Intramural Research Program at the National Human Genome Research Institute and senior author of the study. (nih.gov)
Each of the genetic factors may contribute a little to the overall risk of disease," said Elaine F. Remmers, Ph.D., staff scientist in NHGRI's Inflammatory Disease Section and study co-author. (nih.gov)
The variants of ERAP1 identified in this study increase the risk of Behcet's disease, but only in those individuals with one specific HLA type, HLA-B51, which has previously been associated with Behcet's disease. (nih.gov)
Using MiXeR, the study showed that several genetic variants underlying schizophrenia also influence CVD phenotypes, particularly risk factors of smoking and BMI. (medscape.com)
Methods used in the study are limited by uncertainties in translating genetic loci to causal variants, which restricts the biological interpretation of the shared genetic variants. (medscape.com)
Genome-wide association study identifies variants screening. (who.int)
Highly active antiretroviral therapy (HAART) improves survival in HIV-associated Hodgkin's disease: results of a multicenter study. (medscape.com)

In order to evaluate the power improvement provided by using SNP markers in a real situation, we have performed a whole genome screen of 19 non-BRCA1/2 breast cancer families using 4720 genomewide SNPs with Illumina technology (Illumina's Linkage III Panel), with an average distance of 615 Kb/SNP. (biomedcentral.com)
From nearly 800,000 SNPs, researchers detected and mapped a small number that are found in those who have Behcet's disease at a significantly higher rate than in those without the disease, suggesting that the variant or another one nearby contributes to the disease. (nih.gov)
As all SNPs in the genome correlate with each other, one could conceivably type as few as 500,000 SNPs to obtain information on most of the 13 million SNPs across the genome. (medscape.com)

These have identified several genetic loci associated with CKD, including variants in UMOD, SHROOM3, solute carriers, and E3 ubiquitin ligases. (news-medical.net)

Whereas NETs have a protective role in host defense against pathogens, NETs have also been shown to be involved in the pathogenesis of various diseases including, thrombosis ( 2 ), cardiovascular diseases ( 3 , 4 ), auto-immune diseases ( 5 ) and sepsis ( 6 ). (frontiersin.org)
Understanding genetic factors contributing to COVID-19 infection and severity may provide new biological insights into disease pathogenesis and identify therapeutic targets. (sanger.ac.uk)
Pathogenesis of Dupuytren Disease: active or passive contracture? (dupuytrensymposium.org)

As genetic susceptibility contributes to a large proportion of chronic inflammatory intestinal diseases, we hypothesize that the genomic regions surrounding established genome-wide associated variants for these chronic inflammatory diseases are associated with PDAC. (upf.edu)
We examined the association between PDAC and genomic regions (±500 kb) surrounding established common susceptibility variants for ulcerative colitis, Crohn's disease, inflammatory bowel disease, celiac disease, chronic pancreatitis, and primary sclerosing cholangitis. (upf.edu)
We analyzed summary statistics from genome-wide association studies data for 8,384 cases and 11,955 controls of European descent from two large consortium studies using the summary data-based adaptive rank truncated product method to examine the overall association of combined genomic regions for each inflammatory disease group. (upf.edu)
Genomic regions for celiac disease (P = 0.22) and primary sclerosing cholangitis (P = 0.078) were not associated with PDAC. (upf.edu)
Our results support the hypothesis that genomic regions surrounding variants associated with inflammatory intestinal diseases, particularly, ulcerative colitis, Crohn disease, inflammatory bowel disease, and chronic pancreatitis are associated with PDAC. (upf.edu)
SIGNIFICANCE: The joint effects of common variants in genomic regions containing susceptibility loci for inflammatory bowel disease and chronic pancreatitis are associated with PDAC and may provide insights to understanding pancreatic cancer etiology. (upf.edu)
The SNP assays are finding genomic regions associated with BRDC susceptibility, suggesting that genetic progress in these traits could be made by including the specific SNP markers that are indicators of BRDC disease risk in national cattle genetic evaluations. (extension.org)

Together, these data suggest that the genetic contribution to prognosis in Crohn's disease is largely independent of the contribution to disease susceptibility and point to a biology of prognosis that could provide new therapeutic opportunities. (ox.ac.uk)
The team identified 1,275 eQTLs within the genome which alter gene expression along the innate immune response between people, relevant for 40 immune-related diseases such as Crohn's disease and diabetes. (sanger.ac.uk)
Methods A Medline search including items 'intestinal microbiota/microbiome', 'inflammatory bowel disease', 'ulcerative colitis', 'Crohn's disease', 'faecal microbial transplantation', 'dietary manipulation' was performed. (medscape.com)
In particular, a loss of species richness in Crohn's disease has been widely observed. (medscape.com)
This approach has identified a missense variant in ADCY 7, with mechanistic interpretation being that loss of function reduces cAMP production leading to an excessive inflammatory response that predisposes to ulcerative colitis but not Crohn's disease (CD). (medscape.com)

Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants. (ox.ac.uk)
BACKGROUND AND PURPOSE:Ischemic stroke (IS) and coronary artery disease (CAD) share several risk factors and each has a substantial heritability. (ox.ac.uk)
Coronary artery disease (CAD), also called coronary heart disease (CHD), ischemic heart disease (IHD), myocardial ischemia, or simply heart disease, involves the reduction of blood flow to the heart muscle due to build-up of atherosclerotic plaque in the arteries of the heart. (wikipedia.org)
In adults who go to the emergency department with an unclear cause of pain, about 30% have pain due to coronary artery disease. (wikipedia.org)
Coronary artery disease is characterized by heart problems that result from atherosclerosis. (wikipedia.org)

These genetic markers do not account for the totality of susceptibility to chronic kidney disease, despite a genetic association being established, causal pathways are incompletely understood. (news-medical.net)
Hence, it is important for both researchers and eye care specialists to improve the understanding of causal risk factors and biological mechanisms underlying eye diseases. (frontiersin.org)
Large-Scale Hypothesis Testing for Causal Mediation Effects with Applications in Genome-wide Epigenetic Studies. (harvard.edu)

Genome-wide association studies have identified more than 100 genetic loci for SLE susceptibility across populations, with most of the genetic risk shared across borders and ethnicities. (medscape.com)

Variance components for bovine tuberculosis infection and multi-breed genome-wide association analysis using imputed whole genome sequence data. (omia.org)

It emphasizes that although more resistant compared to exotic population, EASZ are not fully resistant to these local infectious diseases. (nature.com)
Emerging Infectious Diseases , 24 (2), 193-200. (cdc.gov)
Emerging Infectious Diseases , 24 (2), 201-209. (cdc.gov)

To our knowledge, this is the first genetic locus associated with both cancer risk and WHR. (ox.ac.uk)

Further genome-wide association studies in obese and diabetic Arab populations could add to our understanding of the pathophysiology, prevention and reversal of this disease. (who.int)

We used data from the Genotype-Tissue Expression Project to establish genetic models to predict gene expression in breast tissue and evaluated model performance using data from The Cancer Genome Atlas. (ox.ac.uk)

With this problem in mind, a group of scientists at several large U.S. universities obtained USDA funding for a project called the Bovine Respiratory Disease Coordinated Agricultural Project (BRD CAP) to address this problem using the tools of genomics. (extension.org)
The CDC Public Health Genomics and Precision Health Knowledge Base (PHGKB) is an online, continuously updated, searchable database of published scientific literature, CDC resources, and other materials that address the translation of genomics and precision health discoveries into improved health care and disease prevention. (cdc.gov)
This database includes published scientific literature, popular press articles, tools, and databases on the emerging role of pathogen genomics and host-pathogen interactions in infectious disease control and prevention. (cdc.gov)

Venous thromboembolism (VTE) is a multifactorial disease driven by environmental/acquired risk factors such as age, obesity, oral contraceptives, and immobility, as well as inherited risk factors such as genetic polymorphisms. (medscape.com)
Association of NOS2A gene polymorphisms with susceptibility to bovine tuberculosis in Chinese Holstein cattle. (omia.org)
Association between SLC11A1 (NRAMP1) polymorphisms and susceptibility to tuberculosis in Chinese Holstein cattle. (omia.org)

It is the combination of these changes that helps determine a person's likelihood of developing the disease. (medlineplus.gov)

The rise of whole genome microbial sequencing: A new era for human microbiome analysis (on-demand webinar) Segre J, Pollard K. Science, Sep 29, 2017. (cdc.gov)
Genome Biol 18:13, 2017. (omia.org)

The purpose of this funding opportunity is to provide support for investigative groups to conduct genome-wide association (GWA) genotyping and/or replication studies using data and samples from human subjects on whom information is available for conditions/traits of public health importance and relevant environmental exposures. (nih.gov)
Replication studies identify several genetic variants in Arabs with obesity-linked diabetes. (who.int)

Genome Biology. (kcl.ac.uk)

Distinct germline genetic susceptibility profiles identified for common non-Hodgkin lymphoma subtypes. (who.int)

CONCLUSIONS:Our results demonstrate substantial overlap in the genetic risk of IS and particularly the LAS subtype with CAD. (ox.ac.uk)
Indeed, we would suggest that focusing on environmental cues is likely to influence such behaviours more than repeatedly providing information about genetic risk, gene environment interactions or the results of genome sequencing. (bmj.com)
Genetic variants in the ABO blood-type loci have also been associated with an increased risk of VTE. (medscape.com)
Two studies have identified a genetic variant in GP6, a gene that encodes the platelet collagen receptor, that confers an increased risk of VTE. (medscape.com)
The strongest genetic risk factors for VTE were found to be related to coagulation or the anticoagulation system. (medscape.com)
Risk conferred by genetic variants may be magnified when combined with acquired risk factors. (medscape.com)
Although carriers of the factor V Leiden or prothrombin gene mutations may have a higher risk of recurrent VTE, the magnitude is likely small,[29] and it is unclear whether genetic testing at the time of a first VTE improves outcomes. (medscape.com)
Patients who have stage three or four chronic kidney disease are at a higher risk of progressing to either end-stage renal disease or death. (news-medical.net)
chronic kidney disease is found to incur an 8-to-10-fold increased risk for these conditions. (news-medical.net)
There are several risk factors associated with the development of chronic kidney disease. (news-medical.net)
While the prevalence of chronic kidney disease tends to be greater in women, the disease is typically more severe in men, who also have an increased risk of end-stage renal disease. (news-medical.net)
There is a large body of evidence to suggest that there is a higher mortality risk and rate of progression of chronic kidney disease in men compared to women, with the exception being in post-menopausal women and diabetic patients. (news-medical.net)
Consequently, it is advised that those with chronic kidney disease should have high-risk family members screened. (news-medical.net)
The control of hypertension is related to a reduced rate of chronic kidney disease progression, as well as a reduced risk of cardiovascular disease. (news-medical.net)
con committedly, chronic kidney disease may be a risk factor for cancer, and there is a strong association between the two conditions due to the commonality of risk factors, often toxins. (news-medical.net)
Literature has demonstrated that compared with the general population, those who receive a kidney transplant as a result of chronic kidney disease have a three to four-fold increase in overall cancer risk. (news-medical.net)
Aside from the strong genetic risk conferred by multiple variants of the prion protein gene (PRNP), several other risk variants have been suggested. (bmj.com)
Here, we report the first genome-wide analysis for CNV-associated risk in sCJD (n=1147) and publicly available controls (n=5427). (bmj.com)
Many common human diseases are affected by thousands of genetic variants, each with individually small effects on the risk of developing these clinical conditions. (ukbiobank.ac.uk)
The identified variants are then aggregated to produce polygenic risk scores (PRS) to stratify individuals based on their susceptibility to developing a particular disease as a function of the genetic variants they carry. (ukbiobank.ac.uk)
The results of this project should aid in early identification of individuals at higher risk of certain health conditions who will benefit from preventive interventions and personalized treatments, and will result in the generation of many PRS models for common diseases to optimize clinical care. (ukbiobank.ac.uk)
Although these variants have added to our understanding of disease pathology, they usually account for only a small proportion of disease risk. (vumc.org)
Zhongming Zhao, Ph.D. , and colleagues have developed an approach to identify gene variants that act together - for example in a biological pathway - and have a joint effect on disease risk. (vumc.org)
Genetic factors are thought to play a role in susceptibility to Behcet's disease, with the human leukocyte antigen (HLA) B-51 gene region of the genome, accounting for about 20 percent of genetic risk for the disease. (nih.gov)
The risk of developing SLE is at least in part genetic, but it is a complex genetic illness with no clear mendelian pattern of inheritance. (medscape.com)
Due to an increase in inactive (sedentary) lifestyles, obesity, and other risk factors, the frequency of this disease has more than quadrupled in the past 35 years. (medlineplus.gov)
However, for many of the variations that have been associated with type 2 diabetes, the mechanism by which they contribute to disease risk is unknown. (medlineplus.gov)
Genetic variations likely act together with health and lifestyle factors to influence an individual's overall risk of type 2 diabetes. (medlineplus.gov)
A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32. (medscape.com)

Data collection from the feedlot beef cattle population is complete, and a similar analysis is being performed to identify genetic markers in this population. (extension.org)
these approaches can identify genetic overlap regardless of the effect directions. (medscape.com)

A genome-wide linkage screen was undertaken using 254 highly polymorphic microsatellite markers from the Medical Research Council (UK) (MRC) set. (nih.gov)
Genomewide linkage scans have traditionally been performed using low-density maps of microsatellite markers with a spacing of about 10 cM across the genome [ 1 ]. (biomedcentral.com)
All of these DNA samples were run on a 770,000 single nucleotide polymorphism (770K SNP) genotyping chip and the profiles of the sick cattle were then compared to those that were healthy to see if there were any genetic markers associated with reduced susceptibility to BRDC. (extension.org)

Data on BRDC incidence is not routinely collected on most farms, nor is it included in national genetic evaluations. (extension.org)
This review summarizes the major pathological factors linking obesity to diabetes, focussing on current epidemiological data related to obese diabetic patients in the Arab world, the etiology of the disease and the genetic determinants of diabetes and obesity. (who.int)

Cite this: New Insight Into Genetic Link Between Schizophrenia and CVD - Medscape - Sep 28, 2023. (medscape.com)

Using GASPACHO (GAuSsian Processes for Association mapping leveraging Cell HeterOgeneity), researchers at the Wellcome Sanger Institute, the National Center for Child Health and Development in Japan, Tel Aviv University and their collaborators have identified a gene variant that affects COVID-19 susceptibility. (sanger.ac.uk)

Parkinson's disease (PD) is one of the most common movement disorders characterized by decreased of dopaminergic neurons. (nature.com)
It is hoped the tool can be applied to discover further susceptibility mechanisms across other human disorders. (sanger.ac.uk)
It is a non-communicable disease that includes a range of physiological disorders which are attributed to abnormal renal function and its progressive decline infiltration rate (the glomerular filtration rate). (news-medical.net)
Inflammatory Bowel Disease (IBD) is a group of disorders in which the intestinal tract has become invaded with the dog's own white blood cells leading to inflammation. (pwdfoundation.org)
Eye diseases comprise a heterogeneous group of disorders affecting the visual system at many different levels. (frontiersin.org)
Since it is likely to be very short, such research might not yield much useful information on, for example, inherited genetic disorders or genetic ageing. (who.int)

Registry-based epidemiologic studies suggest associations between chronic inflammatory intestinal diseases and pancreatic ductal adenocarcinoma (PDAC). (upf.edu)

4] There have been a variety of investigations into the genetic determinants of VTE, ranging from candidate gene studies to genome-wide association studies. (medscape.com)
However, as expected, the knowledge that resulted from these candidate gene studies has been limited to understanding molecular mechanisms related to known disease pathobiologic processes. (medscape.com)

The gut needs to produce a strong protective immune response to resist the invasion of pathogenic antigens, while similar reactions to harmless antigens such as dietary proteins or symbiotic microorganisms, may lead to chronic inflammatory diseases. (frontiersin.org)

The prevalence of diabetes increases with age, and the disease currently affects more than 20 percent of Americans over age 65. (medlineplus.gov)
The majority of genetic variations associated with type 2 diabetes are thought to act by subtly changing the amount, timing, and location of gene activity (expression). (medlineplus.gov)
This database includes published scientific literature on evidence-based translation of genomic and precision health discoveries into improved health care and population health, featuring information on topics that include reproductive health, birth defects, newborn screening, chronic diseases such as cancer and diabetes, pharmacogenomics, and family health history, guidelines and recommendations. (cdc.gov)

Although the role of NETs in health and disease has been postulated, the molecular mechanisms of NET formation remain elusive. (frontiersin.org)
The assessment of genetic variants in association with NETs might help to elucidate potential molecular mechanisms intervening in their formation and their downstream effect on other pathways. (frontiersin.org)
While this genetic alteration needs to be explored further to fully understand the role it plays, it offers insights into the molecular mechanisms underlying susceptibility to COVID-19 and other immune-related diseases, providing a basis for developing potential therapies harnessing these genetic mechanisms. (sanger.ac.uk)

Our results support that different selection pressures (e.g. environmental constraints, human selection, genome admixture constrains) have shaped the genome of EASZ. (nature.com)
(A) Amino acid sequence of RNases T2 from human, mouse, rabbit, fruit fly, and classical swine fever virus showing the wide evolutionary conservation of these enzymes. (frontiersin.org)
Genomewide linkage scans have become a widely used tool in the effort to unravel the genetic bases of human hereditary diseases. (biomedcentral.com)
A multi-dimensional integrative scoring framework for predicting functional variants in the human genome. (harvard.edu)
Researchers have identified four new regions on the human genome associated with Behcet's disease, a painful and potentially dangerous condition found predominantly in people with ancestors along the Silk Road. (nih.gov)
The major histocompatibility complex (MHC) on chromosome 6, which contains the human lymphocyte antigens (HLA), was the first described genetic link to SLE. (medscape.com)
Several participants reported interest among the scientific and medical communities of their countries and regions in the use of somatic cell nuclear transfer techniques to produce cloned human embryos for time-limited basic research on ageing and genetic diseases. (who.int)

Chronic kidney disease is defined as damage of the renal parenchyma that results in chronic deterioration of kidney function and may result in progression to end-stage renal disease. (news-medical.net)

A framework for detecting noncoding rare-variant associations of large-scale whole-genome sequencing studies. (harvard.edu)

Results from the BRD CAP illustrate that by using the 770K SNP assay and accurate case diagnosis, the genomic heritability estimates of BRDC susceptibility in Holstein dairy calves is moderately heritable (0.21). (extension.org)

We conducted a genome-wide analysis to evaluate the extent of shared genetic determination of the two diseases. (ox.ac.uk)
A recent genome wide SNP analysis revealed an ancient stable African taurine x Asian zebu admixture. (nature.com)
Efficient and accurate frailty model approach for genome-wide survival association analysis in large-scale biobanks. (harvard.edu)
We have entered the "omics" era, which now allows us to undertake large-scale/high-throughput microbiota analysis which may well define how we approach diagnosis and treatment of inflammatory bowel disease (IBD) in the future, with a strong steer towards personalised therapeutics. (medscape.com)

It is the most common of the cardiovascular diseases. (wikipedia.org)
Common genetic abnormalities, particularly among whites, include factor V Leiden and prothrombin gene 20210A mutations. (medscape.com)
Hypertension is both a cause and effect of chronic kidney disease and is a common comorbidity in those with chronic kidney disease. (news-medical.net)
Description: Inflammatory bowel disease (IBD) is a common disease of dogs, causing vomiting, diarrhea and weight loss. (pwdfoundation.org)
Only two common susceptibility loci for RCC have been confirmed to date. (ox.ac.uk)
These newly discovered genetic associations provide a link between Behcet's disease and other more common illnesses, and thereby suggest new therapies for Behcet's disease. (nih.gov)
The genetic associations have helped classify Behcet's disease with more common inflammatory conditions such as psoriasis, inflammatory bowel disease and a form of spinal arthritis called ankylosing spondylitis. (nih.gov)
In the United States, the disease is most common in Native Americans and Alaska Natives. (medlineplus.gov)

Familial studies support a genetic contribution to prognosis, but little evidence has been found for a proposed association between prognosis and the burden of susceptibility variants. (ox.ac.uk)
The burden of chronic kidney disease is increasing worldwide and is becoming increasingly prevalent in developing countries. (news-medical.net)
There were no statistically significant alterations in the burden of CNV duplications or deletions in any disease group or geographic region after correction for multiple testing. (bmj.com)

Results Disease remission and relapse are associated with microbial changes in both mucosal and luminal samples. (medscape.com)

Anatomy11

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Chemicals and Drugs38

Analytical, Diagnostic and Therapeutic Techniques and Equipment43

Psychiatry and Psychology2

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Study21

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20172

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