Genomewide diseases disease susceptibility. Medical search. Frequent questions

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)
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. (bioseek.eu)
Combined with previously confirmed loci, these results identify 71 distinct loci with genome-wide significant evidence for association with Crohn's disease. (bioseek.eu)
Several susceptibility loci for classical Hodgkin lymphoma have been reported. (ox.ac.uk)
More than 200 susceptibility loci have been identified in populations of predominantly European ancestry, but few loci have been associated with IBD in other ethnicities. (njit.edu)
The PROCARDIS study recruited 2,658 affected sibling pairs (ASPs) with onset of CAD before age 66 y from four European countries to map susceptibility loci for CAD. (ckbiobank.org)
We identified four genome-wide significant loci, none of which showed any association with disease susceptibility. (ox.ac.uk)
Conversely, the aggregated effect of all 170 disease susceptibility loci was not associated with disease prognosis. (ox.ac.uk)
Genetic loci implicated in hereditary, familial, and sporadic breast cancer susceptibility. (hindawi.com)
These newly identified genetic regions, when taken together with those previously identified, bring the known CD susceptibility loci to a total of 65. (crohnsforum.com)
One study presented at DDW 2010[5] focused on fine-mapping one of the previously identified CD GWAS loci at 10q21, implicating a nonsynonymous SNP in the ZNF365 as the likely CD susceptibility polymorphism at this locus. (crohnsforum.com)
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)
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)
A genome-wide association study of Hodgkin's lymphoma identifies new susceptibility loci at 2p16.1 (REL), 8q24.21 and 10p14 (GATA3). (medscape.com)

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)
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)
Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants. (ox.ac.uk)
The detection of variants associated with IBD risk in only people of African descent demonstrates the importance of studying the genetics of IBD and other complex diseases in populations beyond those of European ancestry. (njit.edu)
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)
Here we examine the homozygous and heterozygous effects of 44,370 coding variants on 2,444 disease phenotypes using data from the nationwide electronic health records of 176,899 Finnish individuals. (nature.com)
In particular, we find variants that are known to cause diseases with recessive inheritance with significant heterozygous phenotypic effects. (nature.com)
Similarly, we find presumed benign variants with disease effects. (nature.com)
Our results show how biobanks, particularly in founder populations, can broaden our understanding of complex dosage effects of Mendelian variants on disease. (nature.com)
Identifying variants that influence disease risk only in the homozygous state (recessive inheritance) is particularly challenging, as the square of variant frequencies means that the homozygous state is often exceedingly rare. (nature.com)
This leads to higher rates of homozygosity, and increases the chance occurrence of pathogenic variants in a homozygous state that lead to diseases with recessive inheritance. (nature.com)
The higher allele frequencies of deleterious founder variants increases the statistical power for detecting disease associations. (nature.com)
Genome-wide association studies (GWAS) are widely used to identify susceptibility variants of common diseases. (springer.com)
and laboratory-based functional assays to validate and characterize candidate functional/causal variants, gene targets, and disease pathways. (mskcc.org)
The identification of causal or predictive variants/genes/mechanisms for disease-associated traits is characterized by 'complex' networks of molecular phenotypes. (researchgate.net)
Inherited mutations in a small number of genes account for about five to ten percent of women's cancers.These inherited variations, identified in breast, ovarian, and endometrial cancer susceptibility, can be characterized in the general population by their frequency and the magnitude of their impact upon a patient (Table 1 ).Some inherited variants occur rarely in the general population, but confer large risks to the individual. (hindawi.com)
Finally, a fourth class of inherited variants includes those that confer low disease risk to the individual, but occur at higher frequencies in populations. (hindawi.com)
Several recent genome-wide association studies (GWAS) have identified variants that may affect susceptibility to infectious diseases, demonstrating the potential value of GWAS in this arena. (biomedcentral.com)
[ 11-13 ] The most recent studies have undertaken low-coverage whole genome sequencing to interrogate low-frequency variants and define how much these variants contribute to IBD susceptibility. (medscape.com)

We undertook a meta-analysis of six Crohn's disease genome-wide association studies (GWAS) comprising 6,333 affected individuals (cases) and 15,056 controls and followed up the top association signals in 15,694 cases, 14,026 controls and 414 parent-offspring trios. (bioseek.eu)
UK case collections were supported by the National Association for Colitis and Crohn's disease, Wellcome Trust, Medical Research Council UK and Peninsular College of Medicine and Dentistry, Exeter. (bioseek.eu)
Background & Aims The inflammatory bowel diseases (IBD) ulcerative colitis (UC) and Crohn's disease (CD) cause significant morbidity and are increasing in prevalence among all populations, including African Americans. (njit.edu)
Genome-wide association study identifies distinct genetic contributions to prognosis and susceptibility in Crohn's disease. (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)
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)
In addition, he developed statistical methods to find associations between genes and disorders such as Crohn's disease, inflammatory bowel disease, autism and schizophrenia. (wikipedia.org)
Inflammatory bowel disease is a complex set of diseases that includes Crohn's disease (CD) and ulcerative colitis (UC), each with multiple bacterial, immune, and non-immune cell types contributing to inflammation. (frontiersin.org)
Another type of IBD, Crohn's disease , also causes chronic inflammation of the intestines. (medlineplus.gov)
Unlike ulcerative colitis, which affects only the inner surface of the large intestine, Crohn's disease can cause inflammation in any part of the digestive system, and the inflammation extends deeper into the intestinal tissue. (medlineplus.gov)
Two recently published GWAS meta-analyses[1,2] have identified more than 30 genetic regions that increase susceptibility to both ulcerative colitis (UC) and Crohn's disease (CD). (crohnsforum.com)
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)

Low BMI may increase susceptibility to NTM-PI, and risk may be higher for persons who self-identify as Asian, independent of BMI. (cdc.gov)

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)
The academic world of genetic research has been dominated by genome-wide association studies (GWAS), and genetic research in inflammatory bowel disease (IBD) has been no exception -- the publication of individual and meta-analyses of GWAS have led to significant advances in our understanding of the pathogenesis of IBD. (crohnsforum.com)
It is widely accepted that GWAS are the first step in identifying genes in complex diseases and that, once a locus has been identified, studies including fine-mapping (a more intensive genetic analysis of the implicated region), as well as expression and functional studies are a natural extension of the research. (crohnsforum.com)
Genetic association studies, such as recent genome-wide association studies (GWAS), have provided a springboard for exploring the contribution of inherited genetic variation and gene/environment interactions in relation to disease. (cdc.gov)

Genome-wide association study of classical Hodgkin lymphoma identifies key regulators of disease susceptibility. (ox.ac.uk)
Genome-wide mapping of susceptibility to coronary artery disease identifies a novel replicated locus on chromosome 17. (ckbiobank.org)

SNP-based GWASs cannot capture the intense polymorphism of HLA genes, highly associated with disease susceptibility. (bvsalud.org)

Centers for Disease Control and Prevention. (cdc.gov)
The Centers for Disease Control and Prevention (CDC) cannot attest to the accuracy of a non-federal website. (cdc.gov)

To localize the regions containing genes that determine susceptibility to ankylosing spondylitis (AS). (nih.gov)
A number of interesting new genes were implicated in this study, including genes associated with other autoimmune conditions such as celiac disease (TAGAP), type 1 diabetes (IL2RA, TAGAP), ankylosing spondylitis (ERAP1), multiple sclerosis (IL2RA), asthma (DENND1B), and rheumatoid arthritis (TAGAP), suggesting a common shared biological pathway across inflammatory diseases. (crohnsforum.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)
the PSORS1 locus on chromosome 6p21 plays the greatest role in determining a patient's susceptibility of developing psoriasis. (msdmanuals.com)

Commonly, single nucleotide polymorphisms (SNPs) are genotyped across the whole genome in different individuals, and statistical methods are used to detect the associations between SNPs and disease status. (springer.com)
There is strong evidence that inherited genetic factors (mutations plus single nucleotide polymorphisms) can play a major role in breast cancer susceptibility [ 1 ]. (hindawi.com)

Gene Prospector is a Web-based application designed to help researchers prioritize and evaluate evidence for genes related to human disease or interactions with non-genetic risk factors. (cdc.gov)

By contrast, in populations that have encountered a recent reduction in population size, certain founder diseases with recessive inheritance are present at higher frequencies. (nature.com)
Through discovery that human HSP-60 and HSP-65 share greater than 50% homology with mycobacterial HSP, enhanced T-cell response has been elicited with exposure to both bacterial and human homogenates in Behçet disease patients compared with controls in United Kingdom, Japanese, and Turkish populations. (medscape.com)

Registry-based epidemiologic studies suggest associations between chronic inflammatory intestinal diseases and pancreatic ductal adenocarcinoma (PDAC). (upf.edu)
Given the importance of CD4 + Th cells in the disease process, this review will focus on how Th cells differentiate in the inflamed intestinal tract during IBD and how the Th lineage-specific cytokines and transcription factors (TFs) contribute to disease. (frontiersin.org)
In IBD, however, Th1 cells accumulate in the intestinal tract of individuals with CD and are directly associated with disease. (frontiersin.org)
A clear understanding of the function of macrophages, as well as their role in pathogens and inflammatory response, will delineate the next steps in the treatment of intestinal inflammatory diseases. (frontiersin.org)
In addition, the effects of macrophages in the occurrence and development of inflammatory bowel disease (IBD), and their role in inducing fibrosis, activating T cells, reducing colitis, and treating intestinal inflammation were also reviewed in this paper. (frontiersin.org)

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)

Humans vary in their susceptibility to acquiring Staphylococcus aureus infection, and research suggests that there is a genetic basis for this variability. (biomedcentral.com)
This database contains records of people with a range of diseases and conditions, including colorectal cancer, susceptibility to infection, metabolic disorders, and carotid artery disease. (ashg.org)

The study will first use data and biospecimens collected in a Swedish national ALS Registry to identify potential risk factors and their underlying interactions with genetic susceptibility, chemical exposures, and gut microbiome. (cdc.gov)

Identification of a novel genetic marker for risk of degenerative rotator cuff disease surgery in the UK Biobank. (cdc.gov)

Pathways (such as the IL23/IL17 pathway, which had been previously identified as important in IBD) were further implicated, with associations seen between CD susceptibility and SMAD3 and TYK2, which are known to influence regulation of this pathway. (crohnsforum.com)

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)
Identifying causal factors for Mendelian and common diseases is an ongoing challenge in medical genetics 1 . (nature.com)
Diet and genetics may play a shared role in the etiology of or protection from many diseases. (jmir.org)
At Digestive Disease Week (DDW) 2010, The International IBD Genetics Consortium presented 2 studies[3,4] that continue the recent trend of combining individual genetic studies, thereby increasing statistical power and strengthening the gene-disease association. (crohnsforum.com)
From the abstract: ' In this Review, we discuss advances in the genetics of obesity from the past decade-with emphasis on developments from the past 5 years-with a focus on metabolic consequences, and their potential implications for precision management of the disease. (cdc.gov)

However, even identical twins with SLE are concordant for disease in only 25% of cases and are therefore discordant (ie, one twin has SLE and one does not) in about 75% of cases. (medscape.com)
Concordance for Hodgkin's disease in identical twins suggesting genetic susceptibility to the young-adult form of the disease. (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)
Dietary intake is an important environmental exposure to consider when evaluating an individual's or population's risk for chronic disease. (jmir.org)
Welcome to Medscape's InDiscussion series on chronic kidney disease . (medscape.com)

Background: While evidence indicates that familial predisposition influences the risk of developing degenerative rotator cuff disease (RCD), knowledge of specific genetic markers is limited. (cdc.gov)
HLA-DR, HLA-DQ, and TAP genes in familial Hodgkin disease. (medscape.com)

Methods We performed 2 high-density, genome-wide scans comprising 2345 cases of African Americans with IBD (1646 with CD, 583 with UC, and 116 inflammatory bowel disease unclassified) and 5002 individuals without IBD (controls, identified from the Health Retirement Study and Kaiser Permanente database). (njit.edu)
As genome sequencing has become cheaper, his group works on developing statistical methods to implicate genetic mutations in neuropsychiatric diseases. (wikipedia.org)

Psoriasis is an inflammatory disease that manifests most commonly as well-circumscribed, erythematous papules and plaques covered with silvery scales. (msdmanuals.com)

Other contributors to genetic susceptibility, for example, polymorphisms, may have a higher relative contribution to risk, but their lower penetrance makes identification more difficult. (hindawi.com)
Clinical Relevance: Identification of genetic RCD susceptibility markers can guide understanding of biological processes in rotator cuff degeneration and help inform disease risk in the clinical setting. (cdc.gov)
Background The concept of an altered collective gut microbiota rather than identification of a single culprit is possibly the most significant development in inflammatory bowel disease research. (medscape.com)

The International Criteria for Behcet's Disease (ICBD), published in 2006, remains the most widely used. (medscape.com)
VAMP (Vesicle-associated membrane protein)-associated protein B and C (VAPB) has been widely studied in neurodegenerative diseases such as ALS, but little is known about its role in cancer. (bvsalud.org)

Theories behind the pathogenesis of Behçet disease currently suggest an autoimmune etiology. (medscape.com)
A very well-conducted candidate gene study that identified RAC1 as a likely CD susceptibility gene[6] highlights the increased understanding of the pathogenesis of this disease. (crohnsforum.com)

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) is a leading cause of death world-wide, and most cases have a complex, multifactorial aetiology that includes a substantial heritable component. (ckbiobank.org)

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)
Of the recessive disease associations that we identify, 13 out of 20 would have been missed by the additive model that is typically used in genome-wide association studies. (nature.com)
If an association between one specific SNP and a certain disease has been identified in the primary study and confirmed in the replication study, we usually treat this association as true positive with a high confidence. (springer.com)
This technique examines the association between the genotype of a common variant and the disease susceptibility across the entire genome. (news-medical.net)
This method involves using a large sample of people to test the association between a gene variant and a certain feature or disease such as allergies. (news-medical.net)
Collection of large (several thousand strong) cohorts of SLE patients and their family members has allowed genome-wide association studies to proceed in this disease. (medscape.com)
We developed a Web-based application that selects and prioritizes potential disease-related genes by using a highly curated and updated literature database of genetic association studies. (cdc.gov)

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)

Gene Prospector provides an online gateway for searching for evidence about human genes in relation to diseases, other phenotypes, and risk factors, and provides links to published literature and other online data sources. (cdc.gov)

Alzheimer disease (AD) is a neurodegenerative disorder marked by cognitive and behavioral impairment that significantly interferes with social and occupational functioning. (medscape.com)

Moving forward, Dr. Jarvik hopes to see more genetic knowledge translated into treatments for common diseases, such as heart disease and cancer. (ashg.org)

Although many data sources for genes and diseases are in the public domain, finding published results with potential implications for understanding gene-disease relationships and gene-environment interactions is not a trivial task. (cdc.gov)

In consequence, there is an enrichment of 36 specific Mendelian genetic diseases such as congenital nephrotic syndrome, Finnish type (CNF) 8 in certain areas of Finland today that show mostly recessive inheritance. (nature.com)

Genomic regions for celiac disease (P = 0.22) and primary sclerosing cholangitis (P = 0.078) were not associated with PDAC. (upf.edu)

A link between diet and the development of certain cancers, cardiovascular disease, liver disease, and type 2 diabetes has been established. (jmir.org)

However, there are a number of lines of evidence that suggest that CD4 + T helper cells are major initiators in the disease process. (frontiersin.org)

The criteria most commonly used for diagnosis come from the International Study Group for Behçet's Disease. (medscape.com)

Hot Topics of the Day are picked by experts to capture the latest information and publications on public health genomics and precision health for various diseases and health topics. (cdc.gov)

For most immune-mediated diseases, the main determinant of patient well-being is not the diagnosis itself but instead the course that the disease takes over time (prognosis). (ox.ac.uk)
Although pulmonary carcinoids show relatively good prognosis in comparison to carcinomas, metastatic disease and relapse do occur. (who.int)

In these studies, CD4 + T cell-depleting and blocking antibodies caused remission from disease in a number of CD and UC patients examined, suggesting a prominent role of CD4 + T cells in propagating disease ( 1 , 2 ). (frontiersin.org)
Results Disease remission and relapse are associated with microbial changes in both mucosal and luminal samples. (medscape.com)

Allergic disease is determined by the complex interplay of environmental and genetic factors. (news-medical.net)
Nationally, disease prevalence is highest in the southeastern United States and Hawaii ( 1 , 3 ), and disease is associated with selected environmental conditions ( 2 ), as well as with higher mycobacterial abundance in household plumbing ( 4 ). (cdc.gov)
Furthermore, modification of genetic susceptibility by environmental factors, both endogenous and exogenous, may alter the degree of penetrance. (hindawi.com)
However, obesity represents the archetypal complex multifactorial disease and arises as a result of behavioural, environmental, and genetic factors which may influence individual responses to diet and physical activity. (bmj.com)
Variation in the human genome contributes to differences in response to environmental risk factors and disease susceptibility [ 1 ]. (cdc.gov)

In the United States, studies have indicated that risk for nontuberculous mycobacterial pulmonary disease (NTM-PD) differs by geographic location and ethnic group ( 1 ). (cdc.gov)
Since then, the human genome has been sequenced, opening the doors to understanding risk factors for diseases based on genetic profiles, which are stored in large databases open to the scientific community. (ashg.org)
Other risk factors include heart disease, obesity, a family history of CKD, inherited kidney disorders, past damage to the kidneys, and older age. (cdc.gov)
Given the capacity of such studies to produce a plethora of information that may then be described in a number of publications, selecting possible disease susceptibility genes and identifying related modifiable risk factors is a major challenge. (cdc.gov)

Despite these advances made in identifying inherited breast cancer susceptibility genes, the vast majority of breast cancers are sporadic, that is, no identifiable mutation in one of the known breast cancer susceptibility genes. (hindawi.com)

The discovery of these genetic defects has biological and clinical implications which are greater than the rarity of the individual diseases might suggest. (bmj.com)
The lungNENomics project aims to address these important questions, and will continue to improve the biological understanding of this exceedingly rare and understudied disease. (who.int)

Cutaneous manifestations can occur in up 75% of patients with Behcet disease and can range from acneiform lesions, to nodules and erythema nodosum. (medscape.com)
HSP-65, found in high concentrations in oral ulcers and active skin lesions in patients with Behçet disease, has also been demonstrated to stimulate production of antibodies that exhibit cross-reactivity with streptococcal species present in the mouth. (medscape.com)
Huntington's disease, a progressive brain disease that robs patients of their ability to function, was one of the early ones. (ashg.org)

Behçet disease is unique among vasculitides in that it has the ability to affect small, medium, and large vessels. (medscape.com)
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)

Anatomy27

Organisms16

Diseases30

Chemicals and Drugs44

Analytical, Diagnostic and Therapeutic Techniques and Equipment34

Psychiatry and Psychology7

Phenomena and Processes100

Disciplines and Occupations5

Anthropology, Education, Sociology and Social Phenomena3

Information Science9

Named Groups7

Health Care20

Geographicals5

Loci14

Variants20

Crohn's14

Increase susceptibility1

GWAS4

Identifies2

Polymorphism1

Centers for Diseas2

Ankylosing spondylitis2

Locus2

Single nucleotide po2

Genes related1

Populations2

Intestinal5

Linkage1

Infection2

Microbiome1

Novel genetic1

Previously identified1

Genetics5

Identical twins2

Chronic3

Familial2

METHODS2

Psoriasis1

Identification3

Widely2

Pathogenesis2

Coronary Artery2

Association7

Burden2

Phenotypes1

Neurodegenerative disorder1

Common1

Interactions1

Mendelian1

Celiac disease1

Type 2 diabet1

Evidence1

Commonly1

Genomics1

Prognosis2

Remission2

Environmental5

Risk4

Cancers1

Biological2

Patients3

Large2