Search results for "immunogenetic"

showing 10 items of 39 documents

Duodenal Bacteria From Patients With Celiac Disease and Healthy Subjects Distinctly Affect Gluten Breakdown and Immunogenicity

2016

Background & Aims Partially degraded gluten peptides from cereals trigger celiac disease (CD), an autoimmune enteropathy occurring in genetically susceptible persons. Susceptibility genes are necessary but not sufficient to induce CD, and additional environmental factors related to unfavorable alterations in the microbiota have been proposed. We investigated gluten metabolism by opportunistic pathogens and commensal duodenal bacteria and characterized the capacity of the produced peptides to activate gluten-specific T-cells from CD patients. Methods We colonized germ-free C57BL/6 mice with bacteria isolated from the small intestine of CD patients or healthy controls, selected for their in v…

0301 basic medicineGlutensDuodenumTissue transglutaminaseT-Lymphocytesdigestive systemMicrobiologyMice03 medical and health sciencesLactobacillusmedicineAnimalsHumansImmunogenetic Phenomenachemistry.chemical_classificationHepatologybiologyImmunogenicityGastroenterologynutritional and metabolic diseasesmedicine.diseasebiology.organism_classificationGlutendigestive system diseasesSmall intestineAltered Schaedler floraMice Inbred C57BLCeliac DiseaseLactobacillus030104 developmental biologymedicine.anatomical_structurechemistryBacterial TranslocationCase-Control StudiesPseudomonas aeruginosaImmunologybiology.proteinGliadinDysbiosisGastroenterology
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ABO blood group A transferase and its codon 69 substitution enzymes synthesize FORS1 antigen of FORS blood group system

2019

AbstractHuman histo-blood group A transferase (AT) catalyzes the biosynthesis of oligosaccharide A antigen important in blood transfusion and cell/tissue/organ transplantation. This enzyme may synthesize Forssman antigen (FORS1) of the FORS blood group system when exon 3 or 4 of the AT mRNA is deleted and/or the LeuGlyGly tripeptide at codons 266–268 of AT is replaced by GlyGlyAla. The Met69Ser/Thr substitutions also confer weak Forssman glycolipid synthase (FS) activity. In this study, we prepared the human AT derivative constructs containing any of the 20 amino acids at codon 69 with and without the GlyGlyAla substitution, transfected DNA to newly generated COS1(B3GALNT1 + A4GALT) cells e…

0301 basic medicineGlycobiologylcsh:MedicineArticleABO Blood-Group System03 medical and health scienceschemistry.chemical_compound0302 clinical medicineBiosynthesisTransferasesABO blood group systemImmunogeneticsTransferaseHumansCodonlcsh:ScienceGenechemistry.chemical_classificationMultidisciplinaryMethionineImmunochemistrylcsh:RForssman antigenMolecular biologyAmino acid030104 developmental biologyEnzymechemistryAmino Acid SubstitutionAntigens SurfaceBlood Group AntigensN-Acetylgalactosaminyltransferaseslcsh:Q030217 neurology & neurosurgeryHeLa Cells
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Role of Immunogenetics in the Outcome of HCMV Infection: Implications for Ageing

2019

The outcome of host-virus interactions is determined by a number of factors, some related to the virus, others to the host, such as environmental factors and genetic factors. Therefore, different individuals vary in their relative susceptibility to infections. Human cytomegalovirus (HCMV) is an important pathogen from a clinical point of view, as it causes significant morbidity and mortality in immunosuppressed or immunosenescent individuals, such as the transplanted patients and the elderly, respectively. It is, therefore, important to understand the mechanisms of virus infection control. In this review, we discuss recent advances in the immunobiology of HCMV-host interactions, with partic…

0301 basic medicineHuman cytomegalovirusAgingCellular immunityvirusesCytomegalovirusReviewlcsh:Chemistry0302 clinical medicineHLA AntigensGenotypeMedicineantibodieslcsh:QH301-705.5SpectroscopyimmunosenescenceImmunity CellularbiologyGeneral MedicineImmunosenescenceGMComputer Science ApplicationsKIRHLAantibodieCytomegalovirus InfectionsHost-Pathogen InteractionsAntibodyGenotypeNKCongenital cytomegalovirus infectionHuman leukocyte antigenelderlyCatalysisVirusInorganic Chemistry03 medical and health sciencesImmunogeneticsAnimalsHumansGenetic Predisposition to DiseasePhysical and Theoretical ChemistryMolecular BiologyHCMVSettore MED/04 - Patologia Generalebusiness.industryOrganic Chemistrymedicine.diseaseImmunity Humoral030104 developmental biologylcsh:Biology (General)lcsh:QD1-999Immunologybiology.proteinbusiness030215 immunology
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Microevolution of bank voles (Myodes glareolus) at neutral and immune-related genes during multiannual dynamic cycles: consequences for Puumala hanta…

2017

ABSTRACTUnderstanding how host dynamics, including variations of population size and dispersal, may affect the epidemiology of infectious diseases through ecological and evolutionary processes is an active research area. Here we focus on a bank vole (Myodes glareolus) metapopulation surveyed in Finland between 2005 and 2009. Bank vole is the reservoir of Puumala hantavirus (PUUV), the agent of nephropathia epidemica (NE, a mild form of hemorrhagic fever with renal symptom) in humans.M glareoluspopulations experience multiannual density fluctuations that may influence the level of genetic diversity maintained in bank voles, PUUV prevalence and NE occurrence. We examine bank vole metapopulati…

0301 basic medicineMaleMyxovirus Resistance Proteins0106 biological sciencesSELECTIONPopulation geneticsPopulation DynamicsGene ExpressionPopulation geneticsNATURAL-POPULATIONPuumala virus01 natural sciencesRodent DiseasesNephropathia epidemicaFinlandGeneticsMolecular Epidemiology0303 health scienceseducation.field_of_studyRodentArvicolinaeMicroevolutionBiological EvolutionBank voleInfectious DiseasesMHC DIVERSITYHemorrhagic Fever with Renal SyndromeHost-Pathogen Interactions[SDV.IMM]Life Sciences [q-bio]/ImmunologyFemaleDisease SusceptibilityDensity fluctuationsMicrobiology (medical)Gene FlowPopulationMetapopulationBiologyMicrobiology010603 evolutionary biology03 medical and health sciencesGenetic driftGeneticsmedicineImmunogeneticsAnimalsHumansPOPULATION-STRUCTUREAdaptationeducationMolecular BiologyEcology Evolution Behavior and SystematicsDisease Reservoirs030304 developmental biologyTOLL-LIKE RECEPTORSHost-pathogen interactionPolymorphism Genetic[SDV.GEN.GPO]Life Sciences [q-bio]/Genetics/Populations and Evolution [q-bio.PE]MX2 PROTEINGenetic DriftNECROSIS-FACTOR-ALPHADENSITY-FLUCTUATIONSmedicine.diseasebiology.organism_classificationEUROPEAN ROE DEERToll-Like Receptor 4030104 developmental biologyToll-Like Receptor 7Evolutionary biology3121 General medicine internal medicine and other clinical medicineVoleRODENT HOST[SDV.EE.IEO]Life Sciences [q-bio]/Ecology environment/Symbiosis
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Amino Acid Polymorphisms in Hla Class II Differentiate Between Thyroid and Polyglandular Autoimmunity.

2019

Abstract Context The structure of the human leucocyte antigen (HLA) peptide-binding clefts strongly contributes to monoglandular and polyglandular autoimmunity (AP). Objective To investigate the impact of amino acid polymorphisms on the peptide-binding interactions within HLA class II and its association with AP. Design Immunogenetic study. Setting Tertiary referral center for autoimmune endocrine diseases. Subjects 587 subjects with AP, autoimmune thyroid disease (AITD), type 1 diabetes (T1D), and healthy unrelated controls were typed for HLA class II. Methods Amino acids within the peptide binding cleft that are encoded by HLA class II exon 2 were listed for all codon positions in all sub…

0301 basic medicineMalemedicine.medical_specialtyEndocrinology Diabetes and MetabolismClinical Biochemistry030209 endocrinology & metabolismPeptide bindingImmunogeneticsHuman leukocyte antigenBiologymedicine.disease_causeBiochemistryAutoimmunityDiagnosis Differential03 medical and health sciencesExon0302 clinical medicineEndocrinologyInternal medicinemedicineHumansGenetic Predisposition to DiseaseAlleleAmino AcidsPolyendocrinopathies AutoimmunePolymorphism GeneticBiochemistry (medical)ThyroidHistocompatibility Antigens Class IIThyroiditis AutoimmuneAutoimmune polyendocrinopathyPrognosis030104 developmental biologyEndocrinologymedicine.anatomical_structureDiabetes Mellitus Type 1Case-Control StudiesFemaleBiomarkersFollow-Up StudiesThe Journal of clinical endocrinology and metabolism
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Translation of Basic Research into Clinics: Killer Immunoglobulin-like Receptors Genes in Autoimmune and Infectious Diseases

2018

Killer immunoglobulin-like receptors (KIRs) regulate the activation of natural killer cells through their interaction with human leucocyte antigens (HLA). KIRs and HLA loci are highly polymorphic, and some of their combinations have been found to protect against viral infections or to predispose to autoimmune disorders. In particular, some activating KIRs profiles may be detrimental in autoimmune pathogenesis, and specific KIRs may be particularly aggressive in the clearance of different microorganisms, protecting individuals in the control of a given pathogen. So, considering that in the pathogenesis of many autoimmune disorders and infections innate immunity plays a key role, the recent …

0301 basic medicinechemical and pharmacologic phenomenaImmunogeneticsHuman leukocyte antigenCommunicable DiseasesAutoimmune DiseasesPathogenesisimmunogenetic03 medical and health sciencestranslational medicineReceptors KIRDrug DiscoveryAutoimmune diseaseotorhinolaryngologic diseasesHumansviral infections.ReceptorPathogenGenePharmacologySettore MED/04 - Patologia GeneraleInnate immune systembiologyhemic and immune systemsImmunity InnateKIR030104 developmental biologyHLA ligandImmunologybiology.proteinAntibody
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The role of immunogenetics in covid‐19

2021

Coronavirus disease 2019 (COVID-19) is induced by SARS-CoV-2 and may arise as a variety of clinical manifestations, ranging from an asymptomatic condition to a life-threatening disease associated with cytokine storm, multiorgan and respiratory failure. The molecular mechanism behind such variability is still under investigation. Several pieces of experimental evidence suggest that genetic variants influencing the onset, maintenance and resolution of the immune response may be fundamental in predicting the evolution of the disease. The identification of genetic variants behind immune system reactivity and function in COVID-19 may help in the elaboration of personalized therapeutic strategies…

0301 basic medicinemedicine.medical_specialtyCoronavirus disease 2019 (COVID-19)ReviewDiseaseImmunogeneticsHuman leukocyte antigenSeverity of Illness IndexCatalysisSARS‐CoV‐2ABO Blood-Group SystemInorganic Chemistrylcsh:Chemistry03 medical and health sciences0302 clinical medicineCOVID‐19HLA AntigensmedicineImmunogeneticsHumansGenetic Predisposition to DiseaseGenetic variabilityPhysical and Theoretical ChemistryIntensive care medicineMolecular Biologylcsh:QH301-705.5SpectroscopyAB0business.industrySARS-CoV-2Organic ChemistryImmunityCOVID-19General MedicineImmunosenescencemedicine.disease3. Good healthComputer Science ApplicationsKIRHLA030104 developmental biologylcsh:Biology (General)lcsh:QD1-999030220 oncology & carcinogenesisIdentification (biology)Disease SusceptibilityCytokine stormbusiness
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Allele frequencies of +874T→A single nucleotide polymorphism at the first intron of interferon-γ gene in a group of Italian centenarians

2002

Ageing is characterized by a pro-inflammatory status which could contribute to the onset of major age-related diseases such as cardiovascular diseases, neurodegeneration, osteoarthritis and osteoporosis, and diabetes. Thus, it can be hypothesized that genetic variations in pro- or anti-inflammatory cytokines might influence successful ageing and longevity. We have studied the distribution of +874T--A interferon-gamma (IFN-gamma) polymorphisms in a large number of Italian centenarians to evaluate if the two alleles might be differently represented in people selected for longevity. DNA samples were obtained from 174 Italian centenarians (99 years old, 142 women and 32 men) and from 24860-year…

AdultMaleAgingmedia_common.quotation_subjectSingle-nucleotide polymorphismImmunogeneticsBiologyPolymorphism Single NucleotideBiochemistryInterferon-gammaEndocrinologyGene FrequencyGenetic variationGeneticsHumansAlleleMolecular BiologyAllele frequencyGeneAllelesAgedmedia_commonAged 80 and overGeneticsLongevityCell BiologyMiddle AgedIntronsItalyAgeingImmunologyFemaleExperimental Gerontology
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HLA-B8,DR3 phenotype and lymphocyte responses to phytohaemagglutinin.

1990

Several reports have shown that HLA-B8,DR3 positive subjects may display some changes in immune parameters when compared with HLA-B8,DR3 negative ones and are prone to develop several immunological diseases. In the present study we have analysed the proliferative response to phytohaemagglutin (PHA) in HLA-typed healthy subjects. A twin method was also employed to assess the role of genetic and environmental factors in the regulation of the response to the mitogen. It was not possible to demonstrate any difference in proliferative response to optimal doses of PHA between groups of subjects carrying or not carrying the HLA-B8,DR3 phenotype. When suboptimal responses were studied, however, the…

AdultMaleLymphocyteImmunologyImmunogeneticsmedicine.disease_causeLymphocyte ActivationHLA-B8 AntigenImmune systemHLA-DR3 AntigenGeneticsmedicineTwins DizygoticHumansPhytohemagglutininsPhytohaemagglutininbiologyCell growthEnvironmental factorTwins MonozygoticPhenotypeProliferative responsemedicine.anatomical_structurePhenotypeImmunologybiology.proteinFemaleJournal of immunogenetics
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Pro-inflammatory gene variants in myocardial infarction and longevity: implications for pharmacogenomics.

2008

Inflammation and genetics play an important role in the pathogenesis of coronary heart disease (CHD). However, despite the increasing appreciation of the role of genetics in CHD and myocardial infarction (MI) pathogenesis, pharmacogenomic approaches to uncover drug target have not been extensively explored. Cyclo-oxygenases (COXs) and 5-lipoxygenase (5-LO) are the key enzymes in the conversion of arachidonic acid to prostaglandins (PG) and leukotrienes (LT) and are implicated in a wide variety of inflammatory disorders, including atherosclerosis. In fact, PGE2 activates Matrix Metallo-proteinases whereas LTB4 is a chemoactractant for monocytes and activates gene expression in inflammatory c…

AdultMalePathologymedicine.medical_specialtymedia_common.quotation_subjectLongevityMyocardial InfarctionIMMUNOGENETICSINFARCTIONINFLAMMATIONLONGEVITYPHARMACOGENOMICSInflammationDiseaseBioinformaticsPathogenesisYoung AdultDrug Delivery SystemsRisk FactorsDrug DiscoverymedicineHumansGenetic Predisposition to DiseaseMyocardial infarctionAlleleAllelesmedia_commonAged 80 and overInflammationPharmacologyArachidonate 5-Lipoxygenasebusiness.industryAge FactorsLongevityMiddle Agedmedicine.diseasePhenotypeCyclooxygenase 2PharmacogeneticsPharmacogenomicsFemalemedicine.symptombusinessPharmacogenetics
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