Search results for "Allele"

showing 10 items of 1006 documents

Increased risk for venous thrombosis in carriers of the prothrombin G→A20210 gene variant

1998

A mutation in the prothrombin gene (G--A20210) has been associated with higher plasma prothrombin levels and an increased tendency for venous thrombosis.To determine whether the prothrombin A20210 allele is independently associated with the occurrence of venous thrombosis.Case-control study.Two thrombosis centers in southern Italy.281 consecutive patients with venous thrombosis confirmed by objective tests and 850 controls.Medical history was collected on standardized questionnaires. The presence of prothrombin G--A2020 and factor V Leiden mutations was determined by polymerase chain reaction. The presence of anticoagulant factors and prothrombin activity was determined by tests of function…

AdultMaleHeterozygotePathologymedicine.medical_specialtyAdolescentStatistics as TopicGastroenterologyRisk FactorsSurveys and Questionnaireshemic and lymphatic diseasesInternal medicineBlood plasmaInternal MedicinemedicineFactor V LeidenHumansPoint MutationRisk factorChildVeinAllelesAgedAged 80 and overbusiness.industryVascular diseaseFactor VGeneral MedicineMiddle AgedThrombophlebitismedicine.diseaseThrombosisPulmonary embolismVenous thrombosismedicine.anatomical_structureCase-Control StudiesChild PreschoolMutationFemaleProthrombinbusinesscirculatory and respiratory physiology
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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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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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Differential association of polymorphisms in the TNFalpha region with psoriatic arthritis but not psoriasis.

2002

To investigate the potential association of tumour necrosis factor alpha (TNFalpha) microsatellite and promoter alleles with psoriatic arthritis (PsA).DNA from 89 white patients with PsA, 65 patients with psoriasis, and 99 healthy white controls was investigated for two TNFalpha promoter (-238 and -308) and three microsatellite polymorphisms (TNFa, c, and d). Patients had previously been studied by serology for HLA class I antigens and by sequence-specific polymerase chain reaction for DRB1* alleles. In addition, TNFalpha production of Ficoll separated peripheral blood mononuclear cells (PBMC) into culture supernatants after stimulation with lipopolysaccharide, alphaCD3 antibodies, phytohae…

AdultMaleImmunologyArthritisEnzyme-Linked Immunosorbent AssayHuman leukocyte antigenurologic and male genital diseasesPeripheral blood mononuclear cellPolymerase Chain ReactionGeneral Biochemistry Genetics and Molecular BiologyStatistics NonparametricPsoriatic arthritisRheumatologyPsoriasismedicineOdds RatioImmunology and AllergyHumansPsoriasisPromoter Regions GeneticAllelesCells CulturedPhytohaemagglutininAgedAged 80 and overChi-Square DistributionPolymorphism Geneticbiologybusiness.industryTumor Necrosis Factor-alphaHaplotypeArthritis PsoriaticMiddle Agedmedicine.diseaseExtended ReportCase-Control StudiesImmunologybiology.proteinLeukocytes MononuclearFemaleAntibodybusinessMicrosatellite RepeatsAnnals of the rheumatic diseases
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DLG5 variants do not influence susceptibility to inflammatory bowel disease in the Scottish population

2005

Introduction: Recent data have suggested that specific haplotypic variants of the DLG5 gene on chromosome 10q23 may be associated with susceptibility to inflammatory bowel disease (IBD) in Germany. Haplotype D, notably characterised by the presence of a G→A substitution at nucleotide 113, was associated with susceptibility to Crohn’s disease (CD) whereas an extended haplotype A conferred protection. Aims: Association of DLG5 haplotypic variants with disease susceptibility, genotype-phenotype relationships, and epistasis with CARD15 was investigated in the Scottish population. Patients and methods: A total of 374 CD, 305 ulcerative colitis (UC), and 294 healthy controls (HC) were studied. Ge…

AdultMaleLetterGenotypePopulationNod2 Signaling Adaptor ProteinSingle-nucleotide polymorphismBiologyInflammatory bowel diseaseLoss of heterozygosityCrohn DiseaseGene FrequencyGenotypemedicineHumansGenetic Predisposition to DiseaseeducationGenotypingAllele frequencyGeneticseducation.field_of_studyTumor Suppressor ProteinsInflammatory Bowel DiseaseHaplotypeGastroenterologyIntracellular Signaling Peptides and ProteinsMembrane ProteinsEpistasis GeneticMiddle Agedmedicine.diseaseInflammatory Bowel Diseasesdigestive system diseasesPhenotypeHaplotypesScotlandImmunologyColitis UlcerativeFemale
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No association of alcohol dependence with HOMER 1 and 2 genetic variants.

2010

Several lines of evidence indicate that alterations of the central cortico-accumbens glutamate pathway are involved in the development and maintenance of alcohol- and substance-use disorders. The HOMER protein family is encoded by 3 genes HOMER (1–3) which are components of the excitatory postsynaptic density complex and function to modulate synaptic activity by the regulation of glutamate signaling. HOMER 1 and 2 have been reported to contribute to chronic alcohol-induced long-term neurochemical changes in the endogenous reward system. Data from animal models suggest a potential role of the Homer protein family in the development of alcohol and substance use. The aim of this study is to as…

AdultMaleLinkage disequilibriumSingle-nucleotide polymorphismBiologyPolymorphism Single NucleotideLinkage DisequilibriumCellular and Molecular NeuroscienceGene FrequencyHomer Scaffolding ProteinsGenotypeGenetic variationSNPHumansGenetic Predisposition to DiseaseAlleleGenetics (clinical)GeneticsAlcohol dependenceHaplotypePsychiatry and Mental healthAlcoholismHaplotypesCase-Control StudiesFemaleCarrier ProteinsAmerican journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
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