Search results for "genotype"

showing 10 items of 1725 documents

Occult Hepatitis B Infection in the Immigrant Population of Sicily, Italy.

2012

In Italy, about 7 % of the resident population is represented by immigrants originating from geographic regions at high endemicity for hepatitis B virus infection. This study aims to assess the prevalence of occult HBV infection (OBI) including the identification of HBV-genotypes in a population of immigrants serologically negative for hepatitis B surface antigen (HBsAg). Between May 2006 and May 2010, 339 immigrants were tested for markers of HBV, hepatitis C virus (HCV) and human immunodeficiency virus (HIV) infections. HBV-DNA was tested by using nested-PCR assays on three different genetic region. HBV-DNA was detected in plasma samples of 11/339 (3.2 %) patients. Most of them had no ser…

AdultMaleHBsAgHepatitis B virusSettore MED/09 - Medicina InternaHIV PositivityGenotypeSettore MED/17 - Malattie InfettiveEpidemiologyHepatitis C virusPopulationEmigrants and Immigrantsmedicine.disease_causeSettore MED/42 - Igiene Generale E ApplicataSerologyYoung AdultGenotypeHIV SeropositivitymedicinePrevalenceHumanseducationSicilyRetrospective StudiesHepatitis B viruseducation.field_of_studyHepatitis B Surface AntigensMolecular epidemiologybusiness.industryPublic Health Environmental and Occupational Healthvirus diseasesOccult HBV infection – Italy – HBV genotype – Immigrants – Molecular epidemiologyMiddle AgedHepatitis BVirologydigestive system diseasesCross-Sectional StudiesImmunologyDNA ViralFemalebusiness
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Hepatitis B and C virus variants in long-term immunosuppressed renal transplant patients in Latvia.

2004

The incidence of genome variants of hepatitis B and hepatitis C viruses among 38 long-term (2–15 years) immunosuppressed patients after renal transplantation and 10 patients undergoing dialysis was investigated. Twelve patients had only HBV infection, 9 had only HCV infection and 14 were co-infected. Regions corresponding to the HBV X/EnII/BCP, preC/C, preS/S and to the HCV core were sequenced for molecular characterization of the HBV and HCV genomes. Fifty-seven percent of HBV DNA isolates belonged to genotype D and 42% to genotype A, whereas 77% of HCV RNA isolates belonged to genotype 1b and only 17% to genotype 3a. One sample (6%) was of genotype 2c. Detailed analysis of the above-menti…

AdultMaleHepatitis B virusGenes ViralGenotypeHepatitis B virus DNA polymerasemedicine.medical_treatmentSequence HomologyHepacivirusVirusHepatitis B virus PRE betaVirologymedicineImmune ToleranceHumansPoint MutationDialysisPhylogenyAgedbusiness.industryIncidence (epidemiology)Hepatitis CHepatitis BMiddle Agedmedicine.diseaseHepatitis BVirologyHepatitis CKidney TransplantationLatviaTransplantationInfectious DiseasesAmino Acid SubstitutionFemalebusinessSequence AnalysisIntervirology
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Occult HBV infection and suppression of HCV replication in the early phase of combination therapy for chronic hepatitis C

2003

Occult HBV infection in subjects with chronic hepatitis C is related to more severe disease outcome. It has been suggested that it might reduce sensitivity to antiviral treatment.To assess in HBsAg negative subjects with chronic hepatitis C any effect of the presence of HBV genomes in the liver on the early kinetics of HCV-RNA under PEG-IFN plus ribavirin.Twenty-two anti-HCV and HCV-RNA positive subjects, with biopsy-proven chronic hepatitis C (M/F 15/7; 50 +/- 8.6 years, 16 genotype 1b) were given PEG-IFN alpha 2b 1.0 microg qw plus ribavirin (800 to 1,200 mg daily according to body weight) for an intended 52 week period. Early virological response was assessed over the first 4 weeks of th…

AdultMaleHepatitis B viruspegylated interferon-alphaGenotypeBiopsyHepacivirusInterferon alpha-2Virus ReplicationAntiviral AgentsPolyethylene GlycolsHepatitis B AntibodieRibavirinchronic hepatitis CHumansHepatitis B AntibodiesAntiviral AgentHepaciviruoccult HBV infection; chronic hepatitis C; pegylated interferon-alpha; viral dynamics; treatment responseoccult HBV infectiontreatment responseInterferon-alphaAlanine TransaminaseHepatitis B viruHepatitis C AntibodiesHepatitis C ChronicMiddle AgedRecombinant ProteinViral LoadHepatitis Bviral dynamicsRecombinant ProteinsTreatment OutcomeLiverDNA ViralRNA ViralDrug Therapy CombinationFemaleHepatitis C AntibodieHuman
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Obese Subjects Carrying the 11482G>A Polymorphism at the Perilipin Locus Are Resistant to Weight Loss after Dietary Energy Restriction

2005

Dietary treatment of obesity could be improved if predictive information about the individual's genetic response to diet was available. Adipose tissue has been the focus of efforts to identify candidate genes. Perilipin is a major protein found in adipocytes, and perilipin knockout mice are lean and resistant to diet-induced obesity.The objective of the study was to examine the association of several polymorphisms at the perilipin (PLIN) locus with obesity and weight reduction in response to a low-energy diet in obese patients.This study was a 1-yr randomized (depending on the PLIN genotype) trial with three follow-up evaluations.The study was conducted at a university research center.One h…

AdultMaleHeterozygotePerilipin-1medicine.medical_specialtyCandidate geneGuanineEndocrinology Diabetes and MetabolismClinical BiochemistryAdipose tissueBiologyBiochemistryEndocrinologyWeight lossInternal medicineWeight LossGenotypePrevalencemedicineHumansObesityAlleleAllelesAgedCaloric RestrictionPolymorphism GeneticAdenineBiochemistry (medical)Middle AgedPhosphoproteinsmedicine.diseaseObesityEndocrinologyDiabetes Mellitus Type 2PerilipinFemalemedicine.symptomCarrier ProteinsBody mass indexThe Journal of Clinical Endocrinology & Metabolism
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The TPH intron 7 A218C polymorphism and TCI dimension scores in alcohol-dependent patients: hints to nonspecific psychopathology

2004

Abstract Aims A linkage of certain alleles of the tryptophan hydroxylase (TPH) intron 7 A218C polymorphism to suicidality and antisocial behaviour has been described. The aim of our study was to find any association between dimensions of the Temperament and Character Inventory (TCI) indicating impulsivity and the TPH polymorphism alleles in unselected alcohol-dependent patients and age-matched controls. Methods We examined 159 alcohol-dependent patients and 161 controls with the TCI and genotyped them for the TPH intron 7 A218C polymorphism alleles. Results Although homozygous TPH genotypes were found more often in alcohol-dependent patients than in controls, an association between TCI dime…

AdultMaleHeterozygoteendocrine systemmedicine.medical_specialtyGenotypeMedicine (miscellaneous)Tryptophan HydroxylaseToxicologyImpulsivityGene FrequencyInternal medicineGenotypemedicineHumansAlleleTemperamentPsychiatric geneticsPolymorphism GeneticHomozygoteTryptophan hydroxylasemedicine.diseaseIntronsAlcoholismPsychiatry and Mental healthClinical PsychologyEndocrinologyCase-Control StudiesImpulsive BehaviorHarm avoidanceFemaleTemperament and Character Inventorymedicine.symptomPsychologyPsychopathologyClinical psychologyAddictive Behaviors
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Role of the pyrin M694V (A2080G) allele in acute myocardial infarction and longevity: a study in the Sicilian population

2006

Abstract A proinflammatory genotype seems to contribute significantly to the risk of developing coronary heart disease (CHD). Conversely, the susceptibility alleles to inflammatory disease should be infrequent in the genetic background favoring longevity. In fact, in a modern environment, attainment of longevity is facilitated by an anti-inflammatory status. To evaluate whether inflammatory alleles of pyrin, the gene responsible for familial Mediterranean fever (FMF) may play an opposite role in CHD and in longevity, we examined three FMF-associated mutations, M694V (A2080G), M694I (G2082A), and V726A (T2177C), encoded by the FMF gene (MEFV) in 121 patients affected by acute myocardial infa…

AdultMaleHeterozygotemedia_common.quotation_subjectImmunologyPopulationDNA Mutational AnalysisLongevityMyocardial InfarctionMEFVFamilial Mediterranean feverEnvironmentPyrin domainProinflammatory cytokineAMIGene FrequencyRisk FactorsGenotypeImmunology and AllergyMedicineHumansProtein IsoformsGenetic Predisposition to DiseaseGenetic TestingAlleleeducationSicilyAllelesmedia_commonAged 80 and overeducation.field_of_studybusiness.industryLongevityAge FactorsCell BiologyMiddle AgedPyrinmedicine.diseaseMEFVCytoskeletal ProteinsinflammationImmunologyAcute DiseaseMutationFemalebusiness
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Influence of genetic variation at the apo A-I gene locus on lipid levels and response to diet in familial hypercholesterolemia

1998

We have examined the apo AI - 75 (G/A) and apo AI + 83(MspI +/-) polymorphisms at the APOA1 gene locus for associations with plasma lipid levels and response to an NCEP-I diet in 69 (44 women, 25 men) heterozygotes for familial hypercholesterolemia (FH). Subjects were studied at baseline (after consuming for one month a diet with 35%, fat, 10% saturated, and 300 mg/day cholesterol) and after 3 months of an NCEP-I diet. No gender-related differences for any of the lipid variables examined were found and the data were analyzed for men and women combined. For the apo AI - 75 (G/A) polymorphism, there were 51 G/G and 18 G/A subjects. At baseline, G/A subjects showed significantly lower total ch…

AdultMaleHeterozygotemedicine.medical_specialtyGenotypeApolipoprotein BCholesterol VLDLLocus (genetics)Familial hypercholesterolemiaHyperlipoproteinemia Type IIchemistry.chemical_compoundInternal medicineGenetic variationAPOA1 GenemedicineHumansAlleleAllelesGeneticsPolymorphism GeneticApolipoprotein A-IbiologyCholesterolCholesterol HDLGenetic VariationHeterozygote advantageCholesterol LDLmedicine.diseaseLipidsDietEndocrinologychemistrybiology.proteinFemalelipids (amino acids peptides and proteins)Cardiology and Cardiovascular MedicineAtherosclerosis
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Evaluation of clinical diagnosis criteria of familial ligand defective apoB 100 and lipoprotein phenotype comparison between LDL receptor gene mutati…

2007

Familial hypercholesterolemia (FH) and familial defective apoB 100 (FDB) are characterized by increased plasma low-density lipoprotein cholesterol (LDLc) levels and risk of coronary heart disease (CHD). FDB is clinically indistinguishable from FH. The aims of this study were to evaluate clinical diagnosis criteria for FDB and to compare the lipoprotein phenotype between carriers of LDL receptor (LDLR) gene mutations that affect the ligand-binding domain and subjects with the R3500Q mutation in apoB gene. We studied 213 subjects (113 probands) with FH and 19 heterozygous FDB subjects. Genetic diagnosis was determined by following a protocol based on Southern blot and polymerase chain reactio…

AdultMaleHeterozygotemedicine.medical_specialtyGenotypeApolipoprotein BPopulationMutation MissenseCoronary DiseaseFamilial hypercholesterolemiaGene mutationBiologyWhite PeopleHyperlipoproteinemia Type IIchemistry.chemical_compoundPhysiology (medical)Internal medicinemedicineHumansMissense mutationeducationPolymorphism Single-Stranded Conformationaleducation.field_of_studyBinding SitesCholesterolGenetic Carrier ScreeningBiochemistry (medical)Public Health Environmental and Occupational HealthCholesterol LDLGeneral MedicineMiddle Agedmedicine.diseaseFounder EffectProtein Structure TertiaryEuropePhenotypeEndocrinologyReceptors LDLchemistryApolipoprotein B-100LDL receptorbiology.proteinFemalelipids (amino acids peptides and proteins)LipoproteinTranslational Research
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Dietary polyunsaturated fatty acids may increase plasma LDL-cholesterol and plasma cholesterol concentrations in carriers of an ABCG1 gene single nuc…

2011

Abstract Background ABCG1 mediates cellular cholesterol transport, but there is very little known about the influence of ABCG1 polymorphisms on human plasma lipoprotein cholesterol concentrations or on the interactions of these polymorphisms with diet. Objective Our objective was to investigate whether interactions between PUFA intake and ABCG1 polymorphisms modulate associations with plasma total cholesterol (TC), LDL- and HDL-cholesterol in two Spanish populations. Methods We grounded our investigation on two general population-based studies: the Hortega study (population A) and the Pizarra study (population B). Participants included 1178 individuals (50.0% women, age range 21–85 years) a…

AdultMaleHeterozygotemedicine.medical_specialtyPopulationSingle-nucleotide polymorphismBiologyPolymorphism Single NucleotideYoung Adultchemistry.chemical_compoundGene FrequencySurveys and QuestionnairesInternal medicineGenotypemedicineHumansGene–environment interactionAlleleeducationAllele frequencyATP Binding Cassette Transporter Subfamily G Member 1AgedAged 80 and overchemistry.chemical_classificationGeneticseducation.field_of_studyChi-Square DistributionCholesterolHomozygoteCholesterol LDLMiddle AgedDietUp-RegulationCholesterolPhenotypeEndocrinologychemistrySpainFatty Acids UnsaturatedATP-Binding Cassette TransportersFemaleGene-Environment Interactionlipids (amino acids peptides and proteins)Cardiology and Cardiovascular MedicinePolyunsaturated fatty acidAtherosclerosis
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Genetic Variation at the ApoA-IV Gene Locus and Response to Diet in Familial Hypercholesterolemia

1998

Abstract —Plasma lipid response to dietary fat and cholesterol is, in part, genetically controlled. The apolipoprotein A-IV (apoA-IV protein; APOA4, gene) has been shown to influence the response to dietary changes in normolipidemic individuals. The response to diet in subjects with familial hypercholesterolemia (FH) is also variable, and no studies are available on the influence of APOA4 mutations on dietary response in these subjects. We studied the effect of 2 common apoA-IV genetic variants (Gln 360 →His and Thr 347 →Ser) on the lipid response to the National Cholesterol Education Program type I (NCEP-I) diet in 67 FH heterozygotes (43 women and 24 men). Subjects were studied at baseli…

AdultMaleHeterozygotemedicine.medical_specialtyVery low-density lipoproteinGenotypeApolipoprotein BHypercholesterolemiaFamilial hypercholesterolemiaStatistics Nonparametricchemistry.chemical_compoundHigh-density lipoproteinInternal medicinemedicineHumansAlleleNational Cholesterol Education ProgramAllelesApolipoproteins AGeneticsAnalysis of VariancebiologyCholesterolGenetic VariationMiddle Agedmedicine.diseaseDietary FatsLipidsEndocrinologychemistryLow-density lipoproteinMutationbiology.proteinFemalelipids (amino acids peptides and proteins)Cardiology and Cardiovascular MedicineArteriosclerosis, Thrombosis, and Vascular Biology
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