AnatomyOrganismsDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPsychiatry and PsychologyPhenomena and ProcessesDisciplines and OccupationsAnthropology, Education, Sociology and Social PhenomenaHumanitiesInformation ScienceNamed GroupsHealth CareGeographicals
Genetic Diseases, InbornDisease SusceptibilityGenetic Predisposition to DiseasePolymorphism, Single NucleotideGenotypeAllelesHaplotypesPolymorphism, GeneticGene FrequencyGenome-Wide Association StudyChromosome MappingMutationGenetic VariationGenome, HumanLinkage DisequilibriumGenetic LinkageGenetic MarkersPhenotypeCase-Control StudiesMicrobial Sensitivity TestsModels, GeneticGenetic TestingGenetic Association StudiesMolecular Sequence DataDiseaseHLA-DQ AntigensPedigreeNod2 Signaling Adaptor ProteinEpistasis, GeneticCrohn DiseaseHLA-DRB1 ChainsHLA-DR3 AntigenHLA-DQ beta-ChainsComplement C4aPlant DiseasesImmunity, InnateHLA-DR AntigensPolymerase Chain ReactionBase SequenceAnti-Bacterial AgentsGenetic LociBahrainGenetics, MedicalSalicylic AcidEugenicsDisease Models, AnimalChromosomes, Human, Pair 6Sequence Analysis, DNAGenes, MHC Class IIMicrosatellite RepeatsGenetics, PopulationMice, Inbred C57BLAutoimmune DiseasesHeterozygoteQuantitative Trait LociGenetic Diseases, Y-LinkedHLA AntigensDiabetes Mellitus, Type 1Plant ImmunityDatabases, GeneticLupus Erythematosus, SystemicHomozygoteEuropean Continental Ancestry GroupOligonucleotide Array Sequence AnalysisDNA Mutational AnalysisAmino Acid SequenceGene DosageMajor Histocompatibility ComplexPseudomonas syringaeDisease ResistanceChromosomes, HumanGene Expression ProfilingAsian Continental Ancestry GroupSpecies SpecificityDNAAge of OnsetComputational BiologyLod ScoreInflammatory Bowel DiseasesGene Expression RegulationRisk FactorsGenomicsCystic FibrosisMice, KnockoutExonsPolymorphism, Restriction Fragment LengthRare DiseasesGenetic CounselingArabidopsisPeronosporaCrosses, GeneticPhysical Chromosome MappingEpigenesis, GeneticDrug Resistance, BacterialCystic Fibrosis Transmembrane Conductance RegulatorAlgorithmsReceptor, EphA1Genetic Diseases, X-LinkedComplement C4Cell Line
Identified lociGenesGeneticsPredispositionSNPsFactor underlying susCoronaryPolymorphismsInfectious diseaseIschemic strokeMultifactorial diseasesSeverityMendelianGenomicCenters for DiseasTraitsVariants associatedVariation influencesCrohn'sBurdenGeneticallyCardiovascularStudyPathwayResistanceMutationsAcuteAggregationMarkers associatedAutoimmunePopulationsRiskClinicalHeterogeneityDifferencesAlzheimer'sFactorsSmokersParkinson'sPreviously identifiedInflammatoryGeneExposure-diseaseHost geneticMolecularMultiple SclerosisIntestinal diseasesPathologyScreening to investigatePathogensCommon
Identified loci1
  • Newly identified loci that influence lipid concentrations and risk of coronary artery disease. (scienceopen.com)
Genes16
  • 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)
  • Genes may influence susceptibility to MS, but results of association studies are inconsistent, aside from the identification of HLA class II haplotypes. (nih.gov)
  • Whole-genome linkage screens in MS have both confirmed the importance of the HLA region and uncovered non-HLA loci that may harbor susceptibility genes. (nih.gov)
  • These SNPs, however, are still thought to account for less than half of all genetic susceptibility to IS, with a number of yet to be discovered genes also contributing to the development of IS. (hindawi.com)
  • Genetic susceptibility to Chagas disease cardiomyopathy: involvement of several genes of the innate immunity and chemokine-dependent migration pathways. (hal.science)
  • A possible genetic component to disease progression was suggested by familial aggregation of cases and the association of markers of innate and adaptive immunity genes with CCC development. (hal.science)
  • Yet age of onset can vary by several decades in people carrying the same length polyglutamine expansion, and a large proportion of this residual variation is genetic in nature and may be due to polymorphisms in other genes [ 12 - 15 ]. (biomedcentral.com)
  • The American Academy of Neurology (AAN) Foundation and the Alzheimer's Association awarded the 2009 Robert Katzman, M.D., Clinical Research Training Fellowship to Joshua Shulman, M.D., Ph.D., a senior neurology resident at the Brigham and Women's Hospital and the Massachusetts General Hospital, for his work investigating genes that influence risk for Alzheimer's disease. (alz.org)
  • Shulman's research is designed to identify genes that influence risk for Alzheimer's disease. (alz.org)
  • Pharmacogenomics provides an opportunity to identify candidate genes for studying disease progression and outcomes. (cambridge.org)
  • Certain genetic variations in the GPX1 (Glutathione peroxidase) and EPHX1 (Epoxide hydrolase) genes are among the few that have been studied by researchers. (livemint.com)
  • Most diseases involve complex interactions of the involved genes, in addition to environmental stimuli. (livemint.com)
  • Thus, the first step in identifying the disease-susceptibility genes should involve identification of candidate genes. (livemint.com)
  • Although we inherit genetic material from our parents, it is at times reshaped by certain epigenetic alterations-influencing (silencing or over-expressing) the activity of certain genes. (livemint.com)
  • Ultimately, understanding of the disease biology, which will lead to identification of target genes for prevention, early detection and novel treatments of this malignancy. (akcchf.org)
Genetics12
  • To identify genetic variants influencing plasma lipid concentrations, we first used genotype imputation and meta-analysis to combine three genome-wide scans totaling 8,816 individuals and comprising 6,068 individuals specific to our study (1,874 individuals from the FUSION study of type 2 diabetes and 4,184 individuals from the SardiNIA study of aging-associated variables) and 2,758 individuals from the Diabetes Genetics Initiative, reported in a companion study in this issue. (scienceopen.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)
  • This is an interesting finding since it suggests the existence of a risk overlap between both diseases , and the need for individual depression genetics - risk evaluation in subjects with obesity . (bvsalud.org)
  • While it is likely that future genome -wide studies with large samples will detect novel genetic variants associated with depression , it seems clear that a combination of genetics and non-genetic information (such is the case of obesity status and other depression comorbidities) will still be needed for the optimization prediction of depression in high-susceptibility individuals. (bvsalud.org)
  • Ertekin-Taner N. Genetics of Alzheimer's disease: a centennial review. (jamanetwork.com)
  • In this series of studies we examined this health care disparity from a genetics perspective by leveraging state-of-the-art genetic methodologies, including whole exome sequencing and bioinformatic tools, in an effort to further elucidate the genetic architecture of T2D-ESKD and non-T2D ESKD in several samples of African Americans, and to a lesser extent, in European Americans. (wfu.edu)
  • The aim of this Topical collection is to showcase progress in neurobiology, imaging, genetics, translational, clinical, therapeutic, and public health research on depression, with the goal of advancing knowledge that may ultimately decrease the burden of disease. (nature.com)
  • We are involved in the development of intellectual property ranging from the clinical application of different types of adult stem cells to the analysis of the genetics underlying disease cause, susceptibility, and severity, which can then be translated into a therapeutic product. (up.ac.za)
  • To address this need, investigators used a study design that is rooted in human genetics, Mendelian randomization , an approach that has been used to identify important modifiable risk factors for common chronic diseases. (cdc.gov)
  • Simply put, population genetics is the study of genetic variation within populations and assessment of changes in the frequencies of genetic variations and alleles in populations. (livemint.com)
  • Our interpopulation comparison provides additional support for a link between genetics and disease resistance. (lu.se)
  • Genetics and public health in the 21st century : using genetic information to improve health and prevent disease / edited by Muin J. Khoury, Wylie Burke, Elizabeth J. Thomson. (who.int)
Predisposition3
  • The basis for SPS genetic predisposition is largely unknown. (nih.gov)
  • Common, low-penetrance genetic variants have been consistently associated with CRC susceptibility, however, their role in SPS genetic predisposition has not been yet explored. (nih.gov)
  • This is known as genetic predisposition or susceptibility. (livemint.com)
SNPs7
  • Data on other single-nucleotide polymorphisms (SNPs) that were significantly associated with coronary artery disease in either study (P 80%) of a true association: chromosomes 1p13.3 (rs599839), 1q41 (rs17465637), 10q11.21 (rs501120), and 15q22.33 (rs17228212). (scienceopen.com)
  • In this study, we aimed to investigate whether a genetic- risk score (GRS) combining multiple depression risk single nucleotide polymorphisms ( SNPs ) might have utility in the prediction of this disorder in individuals with obesity . (bvsalud.org)
  • 0.05) associated SNPs--conferred susceptibility to MS: LAG3 on chromosome 12p13, and IL7R on 5p13. (nih.gov)
  • In addition, a number of different genetic determinants of IS risk have been identified in genome-wide association studies, with single-nucleotide polymorphisms (SNPs) in 9p21, PITX2, HDAC9, ABO, NINJ2, ALDH2, and TSPAN2, all being linked with stroke susceptibility [ 2 ]. (hindawi.com)
  • We perform genetic fine mapping to compute 99% credible SNP sets, which identify 10 GWAS loci that have eight or fewer SNPs in the credible set, including three loci with one single likely causal SNP. (univaq.it)
  • A recent study using SNPs related to either vitamin D serum levels or disposition to vitamin D deficiency provided evidence against vitamin D status as a protective factor for COVID-19 susceptibility or severity. (cdc.gov)
  • We examined the seven newly identified susceptibility SNPs for interactions with body mass index, smoking status, and report of weekly heartburn or reflux. (who.int)
Factor underlying sus1
  • A new hypothesis is proposed, by which excessive delivery of highly fermentable but poorly absorbed short-chain carbohydrates and polyols (designated FODMAPs--Fermentable Oligo-, Di- and Mono-saccharides And Polyols) to the distal small intestinal and colonic lumen is a dietary factor underlying susceptibility to Crohn's disease. (medscape.com)
Coronary8
  • Genomewide association analysis of coronary artery disease. (scienceopen.com)
  • We performed a joint analysis of two genomewide association studies of coronary artery disease. (scienceopen.com)
  • We first identified chromosomal loci that were strongly associated with coronary artery disease in the Wellcome Trust Case Control Consortium (WTCCC) study (which involved 1926 case subjects with coronary artery disease and 2938 controls) and looked for replication in the German MI [Myocardial Infarction] Family Study (which involved 875 case subjects with myocardial infarction and 1644 controls). (scienceopen.com)
  • We identified several genetic loci that, individually and in aggregate, substantially affect the risk of development of coronary artery disease. (scienceopen.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 aneurysm (CAA) formation is the major complication of KD and the leading cause of acquired cardiovascular disease among children. (tmu.edu.tw)
  • Cases of ASCVD - defined as coronary artery disease (CAD), ischemic stroke , or acute complications - were identified via hospital records and death registry. (medscape.com)
Polymorphisms4
  • Large-scale genome-wide association studies and meta analyses have provided powerful insights into polymorphisms that may be predictive of disease and an individual's response to certain nutrients, but moving forward it is imperative that these insights can be applied in the medical setting to reduce the incidence and mortality of CVDs. (scienceopen.com)
  • Athan ES, Lee JH, Arriaga A, Mayeux RP, Tycko B. Polymorphisms in the promoter of the human APP gene: functional evaluation and allele frequencies in Alzheimer disease. (jamanetwork.com)
  • This study aimed to explore the associations between MTHFR or TS genetic polymorphisms and susceptibility to acute lymphocytic leukemia (ALL) in children. (medscimonit.com)
  • Effects of CYP2C19 and P2Y12 Gene Polymorphisms on Clinical Results of Patients Using Clopidogrel after Acute Ischemic Cerebrovascular Disease. (cdc.gov)
Infectious disease9
  • Pathogen and host factors both affect infectious disease susceptibility and progression. (cdc.gov)
  • Dr. Duggal will discuss her research on host genetic susceptibility to infectious disease, focusing on Acute Flaccid Myelitis (AFM). (cdc.gov)
  • 2017 - Gave keynote lecture to the 27th European Congress of Clinical Microbiology and Infectious Disease "Our second genome in health and disease" is free to view here (slides and audio file). (rug.nl)
  • The Infectious Disease Ontology (IDO) is a general terminology, taxonomy, and logical representation of entities relevant to all infectious diseases. (bioontology.org)
  • This NCBO Workshop on the Infectious Disease Ontology is funded by the United States National Institutes of Health through the NIH Roadmap for Medical Research, Grant 1 U54 HG004028. (bioontology.org)
  • The primary goal of this meeting is to explore the potential benefits of using the IDO Infectious Disease Ontology as a controlled vocabulary for promoting consistency in the ways infectious disease data are described. (bioontology.org)
  • Please submit them on the issue tracker ( http://code.google.com/p/infectious-disease-ontology/ ), email the discussion list ( http://groups.google.com/group/ido-discuss ), or email them directly to Lindsay Cowell (lindsay DOT cowell AT utsouthwestern DOT edu). (bioontology.org)
  • Priya Duggal, PhD, Associate Professor, Johns Hopkins Bloomberg School of Public Health, will discuss her research on host genetic susceptibility to infectious disease, focusing on AFM. (cdc.gov)
  • The burden of foodborne and waterborne disease is not uniformly distributed globally: because of the inequitable distribution of the world's resources some countries carry a disproportionately heavy burden of infectious disease, and what is considered a re-emergent pathogen in one location may be endemic in another. (who.int)
Ischemic stroke1
  • Despite being a relatively common disease, the precise molecular mechanisms for the onset of ischemic stroke (IS) are still incompletely understood, with both environmental and genetic factors being implicated in this disease in a complex manner. (hindawi.com)
Multifactorial diseases2
  • Genetic susceptibility to multifactorial diseases. (ox.ac.uk)
  • Title : A Statistical Model for Assessing Genetic Susceptibility as a Risk Factor in Multifactorial Diseases: Lessons from Occupational Asthma Personal Author(s) : Demchuk, Eugene;Yucesoy, Berran;Johnson, Victor J.;Andrew, Michael;Weston, Ainsley;Germolec, Dori R.;De Rosa, Christopher T.;Luster, Michael I. (cdc.gov)
Severity6
  • The host genome influences innate and adaptive immunity and can explain some of the differences in risk of disease and severity among those exposed to the same pathogen. (cdc.gov)
  • Variability in SARS-CoV-2 susceptibility and COVID-19 disease severity between individuals is partly due to genetic factors. (univaq.it)
  • Here, we identify 4 genomic loci with suggestive associations for SARS-CoV-2 susceptibility and 19 for COVID-19 disease severity. (univaq.it)
  • Our study suggests that the diverse symptoms and disease severity of COVID-19 observed between individuals is associated with variants across the genome, affecting gene expression levels in a wide variety of tissue types. (univaq.it)
  • Although these mutations themselves are causative, many disease characteristics such as age of onset, penetrance, and severity of specific symptoms can vary widely between individuals. (biomedcentral.com)
  • These articles address a variety risk factors for COVID-19 susceptibility and severity (see appendix). (cdc.gov)
Mendelian7
  • Mendelian susceptibility to mycobacterial disease (MSMD) is a rare genetic disease. (wikipedia.org)
  • Mendelian susceptibility to mycobacterial disease may be suspected in people with disseminated infections caused by environmental mycobacteria or BCG. (wikipedia.org)
  • My PhD research focused on a relatively simple genetic disorder that is inherited according to Mendelian laws. (rug.nl)
  • Mendelian randomization uses the association of genetic variation with a modifiable exposure and disease outcome as an "instrumental variable" for inferring causal associations between the exposure and the outcome (see figure). (cdc.gov)
  • For example, one study used Mendelian randomization to analyze 38 traits, including smoking, Alzheimer's disease, and type 2 diabetes, for association with COVID-19 hospitalization. (cdc.gov)
  • Like other epidemiologic methods, Mendelian randomization has its own limitations such as a lack of genetic variants as proxies of the modifiable exposure, confounding due to population stratification, and variable effects of genetic variants on outcomes. (cdc.gov)
  • The contributions of Mendelian randomization are likely to continue to evolve as a way to use human genomics to uncover modifiable causes of human disease. (cdc.gov)
Genomic13
  • 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)
  • 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)
  • 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)
  • 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)
  • 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)
  • Newly-available genomic tools offer an opportunity to employ novel genetic approaches to select for cattle that are less susceptible to disease. (extension.org)
  • At the genomic level, it is rather difficult to analyze the disease, especially sporadic PD, from a single gene mutation, and it is more the imbalance in gene expression and phenotypic changes were caused by a variety of regulatory mechanisms which act as mediators between genotype and phenotype. (frontiersin.org)
  • The most highlighted impact of genomics is the inter-population variation, particularly the African genomic diversity, which could provide tools for improved understanding of individual variability in disease and pharmacology [ Reference Masimirembwa and Matimba 3 ]. (cambridge.org)
  • The increase in genomic data in recent years has enabled us to conduct more association studies, thus fortifying genetic research. (livemint.com)
Centers for Diseas3
  • 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)
  • Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. (cdc.gov)
Traits1
  • The possibility of finding these candidates is empowered by the significant impact (effect size) of drug response phenotypes such as adverse drug reactions and treatment outcomes, in contrast to other complex traits such as disease susceptibility and health [ Reference Maranville and Cox 2 ]. (cambridge.org)
Variants associated2
  • The aims of our study were to investigate genetic variants associated with COPD subjects with CB relative to smokers with normal spirometry, an. (biomedcentral.com)
  • A recent study of hospitalization for COVID-19 used genetic variants associated with body mass index (BMI) or waist circumference as instrumental variables for obesity. (cdc.gov)
Variation influences2
Crohn's8
  • Personal view: food for thought--western lifestyle and susceptibility to Crohn's disease. (medscape.com)
  • Susceptibility to the development of Crohn's disease involves a combination of genetic and environmental factors. (medscape.com)
  • The association of Crohn's disease with westernization has implicated lifestyle factors in pathogenesis. (medscape.com)
  • The subsequent rapid fermentation of FODMAPs in the distal small and proximal large intestine induces conditions in the bowel that lead to increased intestinal permeability, a predisposing factor to the development of Crohn's disease. (medscape.com)
  • Evidence supporting this hypothesis includes the increasing intake of FODMAPs in western societies, the association of increased intake of sugars in the development of Crohn's disease, and the previously documented effects of the ingestion of excessive FODMAPs on the bowel. (medscape.com)
  • One of the greatest challenges in defining the pathogenesis of Crohn's disease is to identify predisposing environmental factors. (medscape.com)
  • Genome-wide association study identifies distinct genetic contributions to prognosis and susceptibility in 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)
Burden4
  • 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)
  • We aim to find sustainable laboratory bench to hospital bedside solutions for the overwhelming burden of communicable and non-communicable diseases in South Africa. (up.ac.za)
  • The Institute for Cellular and Molecular Medicine (ICMM) began with an idea in around 2005, to tap into the burden of disease of South Africa for the ultimate benefit of South African patients. (up.ac.za)
  • The growing burden of disease including infectious diseases such as HIV and TB as well as non-communicable diseases such as diabetes, cardiovascular disease and cancer, requires understanding the underlying molecular mechanisms of susceptibility, drug response and resistance towards improving health solutions in SSA [ Reference Sirugo 1 ]. (cambridge.org)
Genetically2
  • To address this, we examined the role of natural variation in defining the susceptibility of genetically diverse individuals to protein aggregation and toxicity, using the Caenorhabditis elegans polyglutamine model. (biomedcentral.com)
  • Even though genetically predisposed individuals may lead a healthy lifestyle, they have an inherent risk of contracting a disease, independent of environmental factor, unless the risk factors are properly addressed. (livemint.com)
Cardiovascular4
  • The development of cardiovascular diseases (CVDs) is due to a complex interaction between the genome and the environment. (scienceopen.com)
  • Cardiovascular diseases (CVDs) are the leading cause of death worldwide, and while most CVDs can be prevented by adopting a healthy lifestyle, this is only half the story. (scienceopen.com)
  • Hypertension (HTN) and smoking are established risk factors for cardiovascular disease ( U.S. Department of Health and Human Services 2000 ), the leading cause of death worldwide ( World Health Organization 2009 ). (nih.gov)
  • Climbing more than five flights of stairs daily is associated with a reduced risk of atherosclerotic cardiovascular disease (ASCVD) of about 20%, new observational data suggest. (medscape.com)
Study14
  • Study selection Randomised controlled smoking cessation interventions using genetic testing for smoking-related diseases. (bmj.com)
  • The aim of this study was to evaluate if common, low-penetrance genetic variants for CRC risk are also implicated in SPS genetic susceptibility. (nih.gov)
  • A case-control study was performed in 219 SPS patients and 548 asymptomatic controls analysing 65 CRC susceptibility variants. (nih.gov)
  • Conclusion: This study reports a lower susceptibility of the Qatari population to IDs in general. (edu.qa)
  • The results of the dairy study showed moderate (~ 0.21) heritability estimates for BRDC susceptibility in pre-weaned Holstein calves. (extension.org)
  • Although the GRS on its own explained a small amount of variance of depression , a significant novel feature of this study is that including non-genetic- risk factors such as BMI together with a GRS came close to the conventional threshold for clinical utility used in ROC analysis and improves the prediction of depression . (bvsalud.org)
  • Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. (jamanetwork.com)
  • IDO is already being applied through disease-specific IDO extensions to the study of seven diseases, including diseases of bacterial, viral, and eukaryotic origin. (bioontology.org)
  • The objective of our study was to test the hypothesis that there is a common susceptibility for the development of airflow obstruction and facial wrinkling in cigarette smokers. (bmj.com)
  • The impact of exposure on the pathogenesis and clinical course of disease requires further study. (cdc.gov)
  • In conclusion, this study suggested that five significantly downregulated mRNAs (MAPK8, CDC42, NDUFS1, COX4I1, and SDHC) and three significantly downregulated miRNAs (miR-126-5p, miR-19-3p, and miR-29a-3p) were potentially useful diagnostic markers in clinic, and lipid metabolism (especially non-alcoholic fatty liver disease pathway) and mitochondrial dysregulation may be the keys to biochemically detectable molecular defects. (frontiersin.org)
  • In general, using a combination of study designs, with different strengths and weaknesses, increases the strength and validity of scientific evidence of the relationship between exposures and disease outcomes. (cdc.gov)
  • Although there are differences in the association patterns between BRCA1 and BRCA2 mutation carriers and the general population for several loci, no study has comprehensively evaluated the associations of all known BC susceptibility alleles with risk of BC subtypes in BRCA1 and BRCA2 carriers. (lu.se)
  • Thus, this study confirms the importance of genetic (family) effects on pathogen resistance with variation in this trait among natural populations. (lu.se)
Pathway2
  • It is a primary immunodeficiency featured by molecular defects in IL12/IFNγ dependent signalling pathway, leading to increased susceptibility to local or disseminated infections by environmental mycobacteria, Mycobacterium bovis Bacille Calmette-Guerin strain, nontyphoidal and typhoidal Salmonella serotypes. (wikipedia.org)
  • Genetic defects impairing the IL12/IFNγ pathway increase the susceptibility to mycobacterial infections by impeding either the production or the response to IFNγ. (wikipedia.org)
Resistance6
  • There is growing interest in the selective breeding of livestock for enhanced disease resistance. (extension.org)
  • Incorporating disease-resistance into breeding decisions offers a sustainable, long-term approach to reduce disease incidence and improve animal health. (extension.org)
  • Resistance to protein aggregation and the ability to restrict its associated cellular dysfunction are independently controlled by the natural variation in genetic background, revealing important new considerations in the search for targets for therapeutic intervention in conformational diseases. (biomedcentral.com)
  • Despite its importance in evolutionary biology, studies of the pattern of disease resistance in natural populations are rare. (lu.se)
  • The results show that a major factor influencing offspring susceptibility is family identity, suggesting heritable variation in pathogen resistance. (lu.se)
  • article{c34f0f78-02b4-4f39-a3c2-3d18e368d937, abstract = {{Despite its importance in evolutionary biology, studies of the pattern of disease resistance in natural populations are rare. (lu.se)
Mutations5
  • Monogenic gain-of-function protein aggregation diseases, including Huntington's disease, exhibit substantial variability in age of onset, penetrance, and clinical symptoms, even between individuals with similar or identical mutations. (biomedcentral.com)
  • This difference in phenotypic expression of proteotoxic mutations is proposed to be due, at least in part, to the variability in genetic background. (biomedcentral.com)
  • The latter two approaches often use induced mutations, including knockouts/knockdowns and overexpression, in fixed genetic backgrounds. (biomedcentral.com)
  • However because these mutations do not cause disease directly, it is more likely that they make people more susceptible to the PD when in cooperation with other risk factors ( Lesage and Brice, 2009 ). (frontiersin.org)
  • We now need to find the precise mutations that cause the disease and link them to functionality. (akcchf.org)
Acute3
  • Kawasaki disease (KD) is an acute, self-limited febrile illness of unknown cause. (biomedcentral.com)
  • Kawasaki disease (KD) is an acute, inflammatory, and self-limited vasculitis affecting infants and young children. (tmu.edu.tw)
  • Acute lymphocytic leukemia (ALL) in children is a clonal disease of bone marrow hematopoietic stem cells. (medscimonit.com)
Aggregation2
  • Familial aggregation studies also support a strong genetic component to T2D-ESKD in African Americans. (wfu.edu)
  • Introgression of polyQ40 into three wild genetic backgrounds uncovered wide variation in onset of aggregation and corresponding toxicity, as well as alteration in the cell-specific susceptibility to aggregation. (biomedcentral.com)
Markers associated1
  • 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)
Autoimmune3
  • MS is an autoimmune disease, driven by other types of immune cells (including B and T cells) that attack myelin, the protective coating that surrounds nerve fibers. (scienceblog.com)
  • Because Graves disease is an autoimmune disorder that also affects other organ systems, taking a careful patient history is essential to establishing the diagnosis. (medscape.com)
  • The evidence for an autoimmune etiology includes pathological findings of infiltrating T cells, the presence of antigen-antibody complexes in affected cartilage, cellular and humoral responses against collagen type II and other collagen antigens, and the observation that immunosuppressive regimens most often suppress the disease. (medscape.com)
Populations2
  • Pharmacogenomics in SSA populations will probe the widest genetic diversity and improve the chances of identifying novel and relevant mechanisms of disease and for targeted therapies to sub-populations. (cambridge.org)
  • There is need to investigate and document genetic variation at loci of pharmacogenetic relevance among different SSA populations since this information could be used to inform drug efficacy, safety and recommended dosage [ Reference Dandara 6 - Reference Masimirembwa and Hasler 8 ]. (cambridge.org)
Risk20
  • Conclusions This systematic review does not provide solid evidence for the proposed beneficial effects of genetic testing for smoking-related diseases on smoking cessation, but does suggest the presence of an immediate motivational effect, such that genetic testing resulted in higher risk perception and more motivation to quit smoking. (bmj.com)
  • Genotyping, a process used to determine genetic differences within an individual's DNA, can provide doctors with relevant information to identify individuals who are at high risk of developing CVDs. (scienceopen.com)
  • Genetic variants for CRC risk are also involved in SPS susceptibility, being the most relevant ones rs4779584- GREM1 , rs16892766- EIF3H and rs3217810- CCND2 . (nih.gov)
  • CONCLUSIONS:Our results demonstrate substantial overlap in the genetic risk of IS and particularly the LAS subtype with CAD. (ox.ac.uk)
  • Body mass index interacts with a genetic-risk score for depression increasing the risk of the disease in high-susceptibility individuals. (bvsalud.org)
  • Non-genetic- risk factors were combined with the GRS in several ways across the five predictive models in order to improve predictive ability . (bvsalud.org)
  • Although the GRS itself explained a small amount of variance of depression , we found a significant improvement in the prediction of depression after including some non-genetic- risk factors into the models. (bvsalud.org)
  • Association studies testing for risk for late-onset Alzheimer's disease with common variants in the beta-amyloid precursor protein (APP). (jamanetwork.com)
  • Variations in the APP gene promoter region and risk of Alzheimer disease. (jamanetwork.com)
  • The amount of a toxicant absorbed into the body-not how much is present in the environment-determines disease risk. (cdc.gov)
  • Mayeux R, Ottman R, Tang MX, Noboa-Bauza L, Marder K, Gurland B, Stern Y. Genetic susceptibility and head injury as risk factors for Alzheimers disease among community-dwelling elderly persons and their first-degree relatives. (healthdata.org)
  • 2, 5 Smoking is also the major risk factor for the development of chronic obstructive pulmonary disease (COPD). (bmj.com)
  • Nevertheless, while a chronic host immune response driven by pathogens may be protective against clinical disease, it may also elevate the risk of inflammation-induced dysplasia. (frontiersin.org)
  • In the early days of the COVID-19 pandemic, when little was known about the natural history of the disease, predicting the course of the pandemic was of premier importance for treating sick patients and redoubling efforts to protect those at highest risk of adverse outcomes. (cdc.gov)
  • BACKGROUND: Important risk factors for esophageal adenocarcinoma and its precursor, Barrett's esophagus, include gastroesophageal reflux disease, obesity, and cigarette smoking. (who.int)
  • Analyses were stratified by susceptibility to ASCVD based on family history, genetic risk, and established risk factors. (medscape.com)
  • The case of Churchill and other similar instances make us question the genetic component in the reduced risk and protective association to cancers in heavy smokers. (livemint.com)
  • It is possible that a healthy-born individual runs a high risk of acquiring a deadly disease. (livemint.com)
  • Genetic mapping has proved to be effective in disease-risk prediction. (livemint.com)
  • No causative agents could be found that linked risk of disease to maternal/interfollicular transfer of pathogens. (lu.se)
Clinical10
  • Clinical disease: physical signs and symptoms resulting from a sufficiently absorbed toxicant dose. (cdc.gov)
  • Many factors determine whether a person exposed to a toxic substance develops a clinical disease. (cdc.gov)
  • There is strong clinical and epidemiological evidence supporting a genetic link between type 2 diabetes associated end-stage kidney disease (T2D-ESKD) and African ancestry. (wfu.edu)
  • Gene Therapy covers both the research and clinical applications of novel therapeutic techniques based on a genetic component. (nature.com)
  • Over the last few decades, significant advances in technologies ranging from identifying novel genetic targets that cause disease through to clinical studies, which show therapeutic benefit, have elevated this multidisciplinary field to the forefront of modern medicine. (nature.com)
  • Recent clinical studies have shown drugs that target B cells mitigate MS, while those that target plasma cells make the disease worse. (scienceblog.com)
  • This article explores the epidemiologic and clinical challenges to establishing exposure associations, the current literature regarding exposure disease relationships and the diagnostic work-up of IPF and asbestosis patients. (cdc.gov)
  • The Robert Katzman, M.D., Clinical Research Training Fellowship is designed to encourage Alzheimer's disease clinical research with the goal of providing better treatment, prevention or cure of the disease. (alz.org)
  • Our understanding of the immune system stems, in great part, from studying the host response to infection, which in most individuals leads to the absence of clinical disease and establishment of highly apt immunological memory. (frontiersin.org)
  • Chronic infections, particularly those which are primarily characterized by an asymptomatic intracellular life cycle, e.g., latent Mycobacterium tuberculosis infection (LTBI), hepatitis B virus (HBV) infection, Chlamydia trachomatis infection, cytomegalovirus (CMV) or Epstein-Barr virus (EBV) infections, present a unique premise to decipher the fine balance between protective host immune responses, immunopathology and full-fledged clinical disease. (frontiersin.org)
Heterogeneity2
  • In addition to genetic heterogeneity, South Africa also has a highly admixed population, which allows a broader range of patient samples when testing new therapies in the laboratory. (up.ac.za)
  • INTRODUCTION: More than 70 common alleles are known to be involved in breast cancer (BC) susceptibility, and several exhibit significant heterogeneity in their associations with different BC subtypes. (lu.se)
Differences3
  • Understanding how genetic differences in individuals contribute to their susceptibility to CVDs can help guide practitioners to give the best advice to achieve a favorable outcome for the patient. (scienceopen.com)
  • Genetic variation may explain differences in disease susceptibility among the population. (cdc.gov)
  • CONCLUSIONS: Differences in associations of common BC susceptibility alleles between BRCA1 and BRCA2 carriers and the general population are explained to a large extent by differences in the prevalence of ER-positive and ER-negative tumors. (lu.se)
Alzheimer's8
  • Statistical map of rs2829887 T association with fibrillar amyloid projected onto the medial and lateral surfaces of a standardized brain, based on joint analysis of Pittsburgh Compound B or Avid-45 standard uptake value ratio images from 114 cognitively normal subjects in the Arizona APOE and Alzheimer's Disease Neuroimaging Initiative cohorts. (jamanetwork.com)
  • A mutation in APP protects against Alzheimer's disease and age-related cognitive decline. (jamanetwork.com)
  • Common variants at ABCA7 , MS4A6A/MS4A4E , EPHA1 , CD33 and CD2AP are associated with Alzheimer's disease. (jamanetwork.com)
  • Common variants at MS4A4/MS4A6E , CD2AP , CD33 and EPHA1 are associated with late-onset Alzheimer's disease. (jamanetwork.com)
  • European Alzheimer's Disease Initiative Investigators. (jamanetwork.com)
  • Your holiday gift today will provide much-needed care and support to the millions of families facing Alzheimer's, while advancing critical research to help end this disease. (alz.org)
  • A neurologist is a doctor with specialized training in diagnosing, treating and managing disorders of the brain and nervous system such as multiple sclerosis, restless legs syndrome, Alzheimer's disease, narcolepsy, and stroke. (alz.org)
  • Learn how Alzheimer's disease affects the brain. (alz.org)
Factors6
  • It is likely that a combination of multiple genetic and environmental factors contribute to development of the condition. (medlineplus.gov)
  • After adjusting for these factors, 100 susceptibility loci were identified. (tmu.edu.tw)
  • My research is aimed at unraveling the causal genetic factors behind some hereditary diseases. (rug.nl)
  • In 1995, I was one of the first to take up the challenge of searching for the genetic factors that determine more complex disorders. (rug.nl)
  • Thus it is plausible that the genetic factors that predispose smokers to COPD also predispose smokers to wrinkling of the skin. (bmj.com)
  • The genetic composition of a population's gene pool changes over time owing to mutation and other factors. (livemint.com)
Smokers5
  • Results Interest in genetic testing was relatively high with 60-80% of smokers reporting to be interested. (bmj.com)
  • We have tested the hypothesis that there is a common susceptibility for the development of COPD and facial wrinkling in cigarette smokers. (bmj.com)
  • Facial wrinkling is associated with COPD in smokers, and both disease processes may share a common susceptibility. (bmj.com)
  • Facial wrinkling in smokers may therefore be a biomarker of susceptibility to COPD. (bmj.com)
  • It is well recognised that only a proportion of cigarette smokers develop COPD, 8, 9 and that this is likely to be the result of genetic susceptibility to the effects of cigarette smoke. (bmj.com)
Parkinson's1
  • Parkinson's disease (PD) is a quite common neurodegenerative disorder with a prevalence of approximately 1:800-1,000 in subjects over 60 years old. (frontiersin.org)
Previously identified1
  • Whether these genetic susceptibility loci modify previously identified exposure-disease associations is unclear. (who.int)
Inflammatory5
  • Registry-based epidemiologic studies suggest associations between chronic inflammatory intestinal diseases and pancreatic ductal adenocarcinoma (PDAC). (upf.edu)
  • 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 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)
  • Chronic obstructive pulmonary disease (COPD) is airflow limitation caused by an inflammatory response to inhaled toxins, often cigarette smoke. (msdmanuals.com)
Gene2
  • Dose adjustments have been recommended for efavirenz due to genetic variations in CYP2B6 gene, which results in HIV patients in SSA requiring a reduced dose [ Reference Mukonzo 4 , Reference Dhoro 5 ]. (cambridge.org)
  • With genetic analysis, a person can benefit from timely interventions and gene-targeted treatments. (livemint.com)
Exposure-disease3
  • describe the exposure-disease model. (cdc.gov)
  • The exposure-disease model is often used to conceptualize how toxicant exposure occurs and to identify the steps necessary to cause disease or other adverse health or developmental outcomes. (cdc.gov)
  • The exposure-disease model depicts the relationship between an environmental contaminant and an adverse health effect. (cdc.gov)
Host genetic1
  • however, studies exploring causal host genetic variants in IDs are still limited and dramatically skewed with regard to population inclusion. (edu.qa)
Molecular1
  • Advancement in genetic research and testing have aided our understanding and helped us in mapping the disease at the molecular level through genetic associations. (livemint.com)
Multiple Sclerosis2
  • Multiple sclerosis (MS) is a T-cell-mediated disease of the central nervous system, characterized by damage to myelin and axons, resulting in progressive neurological disability. (nih.gov)
  • Researchers at the University of Toronto and UC San Francisco have discovered that the intestine is the source of immune cells that reduce brain inflammation in people with multiple sclerosis (MS), and that increasing the number of these cells blocks inflammation entirely in a preclinical model of the disease. (scienceblog.com)
Intestinal diseases1
  • They are now the most commonly reported bacterial cause of infectious intestinal diseases in the United Kingdom and most other industrialized countries [4]. (who.int)
Pathology1
  • 3 Pathology Department, Hospital Clinic de Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD) and Tumor Bank-Biobank, Hospital Clínic, Barcelona, Spain. (nih.gov)
Screening to investigate1
  • Aim: To perform a comprehensive genetic screening to investigate the presence and frequency of variants previously associated with various infections in the Qatari population. (edu.qa)
Pathogens2
  • Bovine respiratory disease is considered a complex because many different viral and bacterial pathogens are known to be involved in causing disease symptoms. (extension.org)
  • A number of newly recognized pathogens have been identified as major agents in causing foodborne and waterborne disease, including Campylobacter spp. (who.int)
Common3
  • Role of common and rare APP DNA sequence variants in Alzheimer disease. (jamanetwork.com)
  • Smoking related COPD and facial wrinkling: is there a common susceptibility? (bmj.com)
  • In this paper, we report patterns of infection of a viral eye disease in juvenile Swedish common lizards (Lacerta vivipara). (lu.se)