Search results for "Polymorphism"

showing 10 items of 1968 documents

Impact of Single Nucleotide Polymorphisms (SNPs) on Immunosuppressive Therapy in Lung Transplantation.

2015

Lung transplant patients present important variability in immunosuppressant blood concentrations during the first months after transplantation. Pharmacogenetics could explain part of this interindividual variability. We evaluated SNPs in genes that have previously shown correlations in other kinds of solid organ transplantation, namely ABCB1 and CYP3A5 genes with tacrolimus (Tac) and ABCC2, UGT1A9 and SLCO1B1 genes with mycophenolic acid (MPA), during the first six months after lung transplantation (51 patients). The genotype was correlated to the trough blood drug concentrations corrected for dose and body weight (C0/Dc). The ABCB1 variant in rs1045642 was associated with significantly hig…

Adultmedicine.medical_specialtyATP Binding Cassette Transporter Subfamily Bmedicine.medical_treatment<i>P</i>-glycoproteinSingle-nucleotide polymorphismPharmacologyP-glycoproteinGastroenterologyPolymorphism Single NucleotideCatalysisMycophenolic acidTacrolimusArticlelcsh:ChemistryInorganic ChemistryInternal medicineBlood drugmedicinelung transplantationLung transplantationCytochrome P-450 CYP3AHumansPhysical and Theoretical Chemistrylcsh:QH301-705.5Molecular BiologySpectroscopybiologyOrganic ChemistryGeneral MedicineMiddle AgedMycophenolic AcidTacrolimusMultidrug Resistance-Associated Protein 2Computer Science ApplicationsTransplantationlcsh:Biology (General)lcsh:QD1-999Pharmacogeneticsbiology.proteinMultidrug Resistance-Associated ProteinsSLCO1B1PharmacogeneticsImmunosuppressive Agentsmedicine.drugInternational journal of molecular sciences
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Meta-analysis and systematic review of the effect of the donor and recipient CYP3A5 6986A&gt;G genotype on tacrolimus dose requirements in liver tran…

2013

Objective A meta-analysis was carried out of publishedstudies on the effect of the CYP3A5 6986A>Gpolymorphism in liver donors and transplant recipientson tacrolimus pharmacokinetics.Methods Cohort studies that evaluated the relationshipbetween the CYP3A5 polymorphism in liver donors andtransplant recipients and tacrolimus, trough bloodconcentration normalized for the daily dose (C) perkilogram body weight (D) (C/D, ng/ml/mg/kg/day) up to1 year after transplantation, were included. Data were notrestricted by patient age or the language or journal ofpublication. A literature search was conducted using theCochrane Library, MEDLINE, EMBASE, and grey literature,and articles published up to 24 Ap…

Adultmedicine.medical_specialtyAdolescentGenotypemedicine.medical_treatmentLiver transplantationPolymorphism Single NucleotideGastroenterologyTacrolimusYoung AdultInternal medicineGenotypeLiving DonorsGeneticsCytochrome P-450 CYP3AHumansMedicineGeneral Pharmacology Toxicology and PharmaceuticsCYP3A5Molecular BiologyGenetics (clinical)AgedAged 80 and overTransplantationbusiness.industryGenetic VariationMiddle AgedTacrolimusLiver TransplantationTransplantationMeta-analysisImmunologyMolecular MedicinebusinessImmunosuppressive AgentsPharmacogeneticsCohort studyPharmacogenetics and Genomics
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A new PCSK9 gene promoter variant affects gene expression and causes autosomal dominant hypercholesterolemia.

2008

Autosomal dominant hypercholesterolemia (ADH) is a genetic disorder characterized by increased low-density lipoprotein (LDL)-cholesterol levels, leading to high risk of premature cardiovascular disease. More than 900 mutations in LDL receptor, six in APOB and 10 in PCSK9 have been identified as a cause of the disease in different populations. All known mutations in PCSK9 causing hypercholesterolemia produce an increase in the enzymatic activity of this protease. Up to now, there are data about the implication of PCSK9 in ADH in a low number of populations, not including a Spanish population.The objective of the study was to study the prevalence of PCSK9 mutations in ADH Spanish population.W…

Adultmedicine.medical_specialtyApolipoprotein BEndocrinology Diabetes and MetabolismClinical BiochemistryGene ExpressionTransfectionBiochemistryPolymorphism Single NucleotideHyperlipoproteinemia Type IIPCSK9 GeneMiceEndocrinologyGene FrequencyInternal medicinemedicineAnimalsHumansPromoter Regions GeneticAllele frequencyGeneCells CulturedGeneticsbiologyBase SequencePCSK9Biochemistry (medical)Serine EndopeptidasesGenetic disorderHyperlipoproteinemia Type IIaMiddle Agedmedicine.diseaseEndocrinologySpainCase-Control StudiesLDL receptorbiology.proteinNIH 3T3 Cellslipids (amino acids peptides and proteins)Mutant ProteinsProprotein ConvertasesProprotein Convertase 9The Journal of clinical endocrinology and metabolism
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Association of a CB1 Cannabinoid Receptor Gene (CNR1) polymorphism with severe alcohol dependence

2002

Abstract Due to the involvement of the endogenous cannabinoid system in brain reward mechanisms a silent polymorphism (1359G/A; Thr453Thr) in the single coding exon of the CB1 human cannabinoid receptor gene ( CNR1 ) was analysed in 121 severely affected Caucasian alcoholics and 136 most likely non-alcoholic controls. The observed frequency of the A allele was 31.2% for controls and 42.1% for alcoholics with severe withdrawal syndromes ( P =0.010). Post-hoc exploration indicated that this allelic association resulted from an excess of the homozygous A/A genotype in patients with a history of alcohol delirium ( P =0.031, DF 2), suggesting s an increased risk of delirium (OR=2.45, 95% CI 1.14…

Adultmedicine.medical_specialtyCannabinoid receptorGenotypeReceptors DrugToxicologyAlcohol Withdrawal SeizuresAlcohol Withdrawal DeliriumExonRisk FactorsPolymorphism (computer science)Internal medicinemental disordersGenotypemedicineHumansPharmacology (medical)AlleleReceptors CannabinoidPharmacologyPolymorphism Geneticbusiness.industryAlcohol Withdrawal DeliriumAlcoholismPsychiatry and Mental healthEndocrinologyDeliriumBrain stimulation rewardmedicine.symptombusinessDrug and Alcohol Dependence
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Tyrosine hydroxylase Val-81-Met polymorphism associated with early-onset alcoholism

2005

The present study examined the association of the Tyrosine hydroxylase Val-81-Met polymorphism with alcohol dependence. One hundred and fifty-nine patients in a psychiatric unit with alcohol dependence were genotyped as well as 92 healthy volunteers. The Val allele was more frequent in patients with alcohol dependence (69.5%) than in controls (62.5%). This effect was largely due to the association with early-onset alcoholism (77.8%), whereas no difference was noted between late-onset patients and controls. Our results suggest a role for tyrosine hydroxylase in early-onset alcoholism.

Adultmedicine.medical_specialtyGenotypeTyrosine 3-MonooxygenaseMutation MissensePolymerase Chain ReactionPolymorphism Single Nucleotidechemistry.chemical_compoundMethionineReference ValuesInternal medicineGenotypeGeneticsHumansMedicineMissense mutationAge of OnsetAlleleBiological PsychiatryGenetics (clinical)DNA PrimersEarly onsetMethionineBase SequenceTyrosine hydroxylasebusiness.industryAlcohol dependenceValineAlcoholismPsychiatry and Mental healthEndocrinologychemistryAge of onsetbusinessPolymorphism Restriction Fragment LengthPsychiatric Genetics
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Lack of modulating effects of the COMT Val158Met polymorphism on the association of serious life events (SLE) and impulsivity in patients with Border…

2009

Adultmedicine.medical_specialtyPolymorphism GeneticLife eventsValineCatechol O-MethyltransferaseImpulsivitymedicine.diseaseLife Change EventsPsychiatry and Mental healthMethionineBorderline Personality DisorderPolymorphism (computer science)Impulsive BehaviormedicineHumansIn patientmedicine.symptomPsychiatryPsychologyAssociation (psychology)Borderline personality disorderGenetic Association StudiesBiological PsychiatryJournal of Psychiatric Research
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Major gender difference in association of FTO gene variant among severely obese children with obesity and obesity related phenotypes.

2008

Recent studies have shown that SNPs in the FTO gene predispose to childhood and adult obesity. In this study, we examined the association between variants in FTO and KIAA1005, a gene that maps closely to FTO, and obesity, as well as obesity related traits among 450 well characterised severely obese children and 512 normal weight controls. FTO showed significant association with several obesity related traits while SNPs in KIAA1005 did not. When stratified by gender, the FTO variant rs9939609 showed association with obesity and BMI among girls (P = 0.006 and 0.004, respectively) but not among boys. Gender differences were also found in the associations of the FTO rs9939609 with obesity relat…

Adultmedicine.medical_specialtyendocrine system diseasesAdolescentmedicine.medical_treatmentBiophysicsAlpha-Ketoglutarate-Dependent Dioxygenase FTOSingle-nucleotide polymorphismBiochemistryFTO genePolymorphism Single NucleotideRisk AssessmentBody Mass IndexInsulin resistanceSex FactorsRisk FactorsInternal medicineDiabetes mellitusmedicinePrevalenceSNPHumansGenetic Predisposition to DiseaseObesitySex DistributionChildMolecular BiologySwedenbusiness.industryInsulinnutritional and metabolic diseasesGenetic VariationProteinspathological conditions signs and symptomsCell Biologymedicine.diseaseObesityEndocrinologyPhenotypeInsulin ResistancebusinessBody mass indexBiochemical and biophysical research communications
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Genetic polymorphisms of serotonin transporter and receptor 1A could influence success during embryo implantation and maintenance of pregnancy

2012

Objective To explore whether serotonin-related gene polymorphisms influence clinical outcomes of IVF treatment in recipients using donated oocytes. Design Nested case-control study. Setting University-affiliated infertility clinic. Patient(s) Two hundred forty-five women undergoing IVF treatment with donated oocytes. Intervention(s) None. Main Outcome Measure(s) Genotype and haplotype analysis of the serotonin transporter-linked polymorphic region (5-HTTLPR), rs1800532, rs6295, rs6313, and rs3813929, between recipients grouped according to the results of the oocyte donation for IVF treatment. Result(s) No differences were found between genotype distribution of the tryptophan hydroxylase 1, …

Adultmedicine.medical_specialtymedicine.medical_treatmentEarly Pregnancy LossFertilization in VitroPolymorphism Single NucleotideAndrologyGene FrequencyPregnancyRisk FactorsInternal medicineGenotypeOdds RatiomedicineHumansEmbryo ImplantationSerotonin transporterSerotonin Plasma Membrane Transport ProteinsAnalysis of VariancePregnancyChi-Square DistributionIn vitro fertilisationOocyte DonationbiologyHaplotypeObstetrics and GynecologyEmbryo Transfermedicine.diseaseEmbryo transferAbortion SpontaneousPregnancy rateLogistic ModelsPhenotypeTreatment OutcomeEndocrinologyHaplotypesReproductive MedicineCase-Control StudiesReceptor Serotonin 5-HT1Abiology.proteinFemaleFertility and Sterility
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Biology of Longevity: Role of the Innate Immune System

2006

Genetic factors play a relevant role in the attainment of longevity because they are involved in cell maintenance systems, including the immune system. In fact, longevity may be correlated with optimal functioning of clonotypic and natural immunity. The aging of the immune system, known as immunosenescence, is the consequence of the continuous attrition caused by chronic antigenic overload. The antigenic load results in the progressive generation of inflammatory responses involved in age-related diseases. Most of the parameters influencing immunosenescence appear to be under genetic control, and immunosenescence fits with the basic assumptions of evolutionary theories of aging, such as anta…

Aged 80 and overAgingPolymorphism GeneticInnate immune systemmedia_common.quotation_subjectLongevityLongevityInflammationImmunosenescenceBiologyImmunity InnateImmune systemPleiotropy (drugs)AntigenCardiovascular DiseasesImmunityImmunologymedicineHumansGeriatrics and Gerontologymedicine.symptommedia_commonRejuvenation Research
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Immunological and immunogenetic markers in sporadic Alzheimer’s disease

2006

Background: Common polymorphisms of genes controlling inflammation-modulating cytokines and acute-phase proteins which play important roles in the pathogenesis of Alzheimer''s disease (AD) have been shown to be associated with AD. Aims: The immunological and immunogenetic markers potentially useful for the AD risk evaluation and diagnosis are briefly reviewed. Conclusion: The state-of-the-art of immunological and immunogenetic markers of AD indicates that new tools and strategies are necessary to identify gene products useful as diagnostic tools.

AgingDiseaseImmunogeneticsDiagnostic toolsProteomicsPathogenesisApolipoproteins EAlzheimer DiseaseHumansMedicineOligonucleotide Array Sequence AnalysisInflammationAlzheimer’s disease cytokines immunogenetics inflammation proteomicsPolymorphism GeneticGeriatrics gerontologybusiness.industryDNARisk evaluationGene Expression RegulationPositron-Emission TomographyImmunologyCytokinesMicrogliaGeriatrics and GerontologybusinessBiomarkersAcute-Phase ProteinsAging Clinical and Experimental Research
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