Search results for "candidate gene"

showing 10 items of 257 documents

Association Between Individual and Combined SNPs in Genes Related to Innate Immunity and Incidence of CMV Infection in Seropositive Kidney Transplant…

2014

In this study, we assessed the association between single-nucleotide polymorphisms (SNPs) in seven candidate genes involved in orchestrating the immune response against cytomegalovirus (CMV) and the 12-month incidence of CMV infection in 315 CMV-seropositive kidney transplant (KT) recipients. Patients were managed either by antiviral prophylaxis or preemptive therapy. CMV infection occurred in 140 patients (44.4%), including 13 episodes of disease. After adjusting for various clinical covariates, patients harboring T-allele genotypes of interleukin-28B (IL28B) (rs12979860) SNP had lower incidence of CMV infection (adjusted hazard ratio [aHR]: 0.66; 95% confidence interval [CI]: 0.46-0.96; p…

AdultMaleCandidate geneGenotypeReceptors Cell SurfaceSingle-nucleotide polymorphismDiseasePolymorphism Single NucleotideImmune systemGenotypeOdds RatioHumansImmunology and AllergyMedicineSNPLectins C-TypePharmacology (medical)Prospective StudiesAllelesAgedProportional Hazards ModelsTransplantationbusiness.industryIncidenceInterleukinsHazard ratioTLR9Middle AgedKidney TransplantationImmunity InnateTransplant RecipientsCytomegalovirus InfectionsImmunologyKidney Failure ChronicFemaleInterferonsbusinessCell Adhesion MoleculesAmerican Journal of Transplantation
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Large-Scale Gene-Centric Meta-Analysis across 39 Studies Identifies Type 2 Diabetes Loci

2012

To identify genetic factors contributing to type 2 diabetes (T2D), we performed large-scale meta-analyses by using a custom ∼50,000 SNP genotyping array (the ITMAT-Broad-CARe array) with ∼2000 candidate genes in 39 multiethnic population-based studies, case-control studies, and clinical trials totaling 17,418 cases and 70,298 controls. First, meta-analysis of 25 studies comprising 14,073 cases and 57,489 controls of European descent confirmed eight established T2D loci at genome-wide significance. In silico follow-up analysis of putative association signals found in independent genome-wide association studies (including 8,130 cases and 38,987 controls) performed by the DIAGRAM consortium id…

AdultMaleCandidate geneSNP ARRAYAdolescentGenotypeSUSCEPTIBILITY LOCI030209 endocrinology & metabolismGenome-wide association studySingle-nucleotide polymorphismLocus (genetics)BLOOD-PRESSUREBiologyPolymorphism Single NucleotideArticleYoung Adult03 medical and health sciences0302 clinical medicineEthnicityGeneticsHumansEUROPEAN AMERICANSGenetic Predisposition to DiseaseRESOURCE CAREGenetics(clinical)GENOME-WIDE ASSOCIATIONGenetics (clinical)Aged030304 developmental biologyGenetic associationAged 80 and overGeneticsAFRICAN-AMERICANS0303 health sciencesINSULIN-RESISTANCECOMMON VARIANTSMiddle Aged3. Good healthSNP genotypingDiabetes Mellitus Type 2Genetic LociCase-Control StudiesRISK-FACTORSFemaleTCF7L2Follow-Up StudiesGenome-Wide Association StudySNP array
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MicroRNA hsa-miR-4717-5p regulates RGS2 and may be a risk factor for anxiety-related traits

2015

Regulator of G-protein Signaling 2 (RGS2) is a key regulator of G-protein-coupled signaling pathways involved in fear and anxiety. Data from rodent models and genetic analysis of anxiety-related traits and disorders in humans suggest down-regulation of RGS2 expression to be a risk factor for anxiety. Here we investigated, whether genetic variation in microRNAs mediating posttranscriptional down-regulation of RGS2 may be a risk factor for anxiety as well. 75 microRNAs predicted to regulate RGS2 were identified by four bioinformatic algorithms and validated experimentally by luciferase reporter gene assays. Specificity was confirmed for six microRNAs (hsa-miR-1271-5p, hsa-miR-22-3p, hsa-miR-3…

AdultMaleCandidate geneSingle-nucleotide polymorphismMIR4717ComorbidityBiologyBioinformaticsPolymorphism Single NucleotideCellular and Molecular NeuroscienceGenes ReporterRisk FactorsmedicineHumansIKBKEGenetic Predisposition to DiseaseAllelepanic disorderLuciferases3' Untranslated RegionsAgoraphobiaAllelesGenetic Association StudiesGenetics (clinical)miRNAGeneticsPanic disorderassociationComputational BiologyReproducibility of Resultsmedicine.diseaseAnxiety DisordersMicroRNAsPsychiatry and Mental healthGene Expression RegulationCase-Control StudiesLinear ModelsAnxiety sensitivityAnxietyFemalemedicine.symptomgene regulationRGS ProteinsAgoraphobiaAmerican Journal of Medical Genetics Part B-neuropsychiatric Genetics
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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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Functional polymorphism in the neuropeptide Y gene promoter (rs16147) is associated with serum leptin levels and waist-hip ratio in women

2013

<b><i>Objective:</i></b> The neuropeptide-Y (NP-Y) gene is a strong candidate gene in the pathophysiology of obesity-linked behavior, and several single-nucleotide polymorphisms of NP-Y have already been linked to body weight and appetite. However, the results from current studies remain inconclusive. The aim of the present study was to test whether a certain functional genetic variant (SNP rs16147) in the NP-Y promoter gene is associated with serum leptin levels and body fat distribution. <b><i>Method:</i></b> We genotyped and measured the serum leptin levels of the NP-Y rs16147 polymorphism in 1,097 Caucasian subjects in the context of a pop…

AdultMaleLeptinCandidate genemedicine.medical_specialtyGenotypeblood [Leptin]Medicine (miscellaneous)610 Medicine & healthmacromolecular substancesPolymorphism Single NucleotideWhite PeopleStatistics NonparametricWaist–hip ratiogenetics [Obesity]Sex FactorsMedizinische FakultätInternal medicineGenotypemedicineHumansNeuropeptide YObesityddc:610Genephysiology [Neuropeptide Y]Nutrition and Dieteticsbusiness.industryWaist-Hip RatioLeptinCase-control study2701 Medicine (miscellaneous)Middle AgedNeuropeptide Y receptormedicine.diseaseObesitygenetics [European Continental Ancestry Group]EndocrinologyCase-Control Studies10054 Clinic for Psychiatry Psychotherapy and Psychosomatics2916 Nutrition and DieteticsFemalegenetics [Neuropeptide Y]businessphysiology [Polymorphism Single Nucleotide]
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NDST1 missense mutations in autosomal recessive intellectual disability.

2014

NDST1 was recently proposed as a candidate gene for autosomal recessive intellectual disability in two families. It encodes a bifunctional GlcNAc N-deacetylase/N-sulfotransferase with important functions in heparan sulfate biosynthesis. In mice, Ndst1 is crucial for embryonic development and homozygous null mutations are perinatally lethal. We now report on two additional unrelated families with homozygous missense NDST1 mutations. All mutations described to date predict the substitution of conserved amino acids in the sulfotransferase domain, and mutation modeling predicts drastic alterations in the local protein conformation. Comparing the four families, we noticed significant overlap in …

AdultMaleModels MolecularCandidate geneAdolescentGenotypeProtein ConformationDNA Mutational AnalysisMutation MissenseGenes RecessiveBiologyBioinformaticsPolymorphism Single NucleotideAnimals Genetically ModifiedEpilepsyConsanguinityYoung AdultProtein structureIntellectual DisabilityIntellectual disabilityGeneticsmedicineMissense mutationAnimalsHumansChildGenetics (clinical)GeneticsGene knockdownMuscular hypotoniaBehavior AnimalComputational BiologyFaciesHigh-Throughput Nucleotide Sequencingmedicine.diseasePhenotypePedigreePhenotypeChild PreschoolGene Knockdown TechniquesDrosophilaFemaleSulfotransferasesGenome-Wide Association StudyAmerican journal of medical genetics. Part A
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Association of a variant in the muscarinic acetylcholine receptor 2 gene (CHRM2 ) with nicotine addiction

2009

Genetic factors contribute to the overall risk of developing nicotine addiction, which is the major cause of preventable deaths in western countries. However, knowledge regarding specific polymorphisms influencing smoking phenotypes remains scarce. In the present study we provide evidence that a common single nucleotide polymorphism (SNP) in the 5′ untranslated region of CHRM2, the gene coding for the muscarinic acetylcholine receptor 2 is associated with nicotine addiction. CHRM2 was defined as a candidate gene for nicotine addiction based on previous evidence that linked variations in CHRM2 to alcohol and drug dependence. A total of more than 5,500 subjects representative of the German po…

AdultMaleNicotineCandidate geneAdolescentmedia_common.quotation_subjectSingle-nucleotide polymorphismBiologyBioinformaticsNicotineCellular and Molecular NeuroscienceMuscarinic acetylcholine receptormedicineHumansSNPGenetic Predisposition to DiseaseAlleleAllelesGenetics (clinical)Agedmedia_commonAged 80 and overGeneticsReceptor Muscarinic M2AddictionSmokingGenetic VariationTobacco Use DisorderOdds ratioMiddle AgedPsychiatry and Mental healthFemalemedicine.drugAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics
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Novel LMF1 nonsense mutation in a patient with severe hypertriglyceridemia

2009

Context: Lipase maturation factor 1 (LMF1) gene is a novel candidate gene in severe hypertriglyceridemia. Lmf1 is involved in the maturation of lipoprotein lipase (LPL) and hepatic lipase in endoplasmic reticulum. To date only one patient with severe hypertriglyceridemia and related disorders was found to be homozygous for a nonsense mutation in LMF1 gene (Y439X).Objective: The objective of the study was to investigate LMF1 gene in hypertriglyceridemic patients in whom mutations in LPL, APOC2, and APOA5 genes had been excluded.Results: The resequencing of LMF1 gene led to the discovery of a novel homozygous nonsense mutation in one patient with severe hypertriglyceridemia and recurrent epis…

AdultMaleProbandmedicine.medical_specialtyCandidate geneEndocrinology Diabetes and MetabolismMolecular Sequence DataClinical BiochemistryNonsense mutationContext (language use)macromolecular substances030204 cardiovascular system & hematologyBiologyBiochemistry03 medical and health sciencesExon0302 clinical medicineEndocrinologyInternal medicinemedicineHumansTriglyceridesHypolipidemic Agents030304 developmental biologyHypertriglyceridemia0303 health sciencesLipoprotein lipaseBase Sequencedigestive oral and skin physiologyBiochemistry (medical)Hypertriglyceridemianutritional and metabolic diseasesGenetic VariationLMF1 gene; nonsense mutation; hypertriglyceridemiaLMF1 hypertriglyceridemiamedicine.disease3. Good healthLipoprotein LipaseEndocrinologyCodon NonsenseOriginal Articlelipids (amino acids peptides and proteins)Hepatic lipaseGemfibrozil
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3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psych…

2013

Abstract: Background Since the advent of array-CGH, numerous new microdeletional syndromes have been delineated while others remain to be described. Although 3q29 subtelomeric deletion is a well-described syndrome, there is no report on 3q interstitial deletions. Methods We report for the first time seven patients with interstitial deletions at the 3q27.3q28 locus gathered through the Decipher database, and suggest this locus as a new microdeletional syndrome. Results The patients shared a recognisable facial dysmorphism and marfanoid habitus, associated with psychosis and mild to severe intellectual disability (ID). Most of the patients had no delay in gross psychomotor acquisition, but ha…

AdultMalePsychosisCandidate genePediatricsmedicine.medical_specialtyAdolescentLocus (genetics)ArachnodactylyYoung AdultIntellectual DisabilityIntellectual disabilityGeneticsMedicineHumansAbnormalities MultipleGenetics (clinical)GeneticsComparative Genomic Hybridizationbusiness.industryMood DisordersMarfanoidChromosome MappingFaciesInfantSyndromemedicine.diseasePhenotypeMood disordersChild PreschoolBone maturationFemaleHuman medicineChromosomes Human Pair 3Chromosome DeletionbusinessJournal of medical genetics
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Impact of NTRK2, DRD2 and ACE polymorphisms on prolactin levels in antipsychotic-treated patients with first-episode psychosis.

2018

Background: Hyperprolactinemia is a common side-effect of antipsychotics (APs), which may trigger serious secondary problems and compromise the adherence to treatment which is crucial for prognosis, especially in patients presenting with a first-episode of psychosis (FEP). Aims: We evaluated, in some cases for the first time, the effect of polymorphisms in multiple candidate genes on serum prolactin (PRL) levels in an AP-treated FEP cohort recruited in the multicenter PEPs study (Phenotype − genotype and environmental interaction; Application of a predictive model in first psychotic episodes). Methods: PRL concentration was measured in serum from 222 patients. A total of 167 polymorphisms w…

AdultMalePsychosismedicine.medical_specialtyCandidate geneSerotoninSide effectAdolescentmedicine.medical_treatmentDopaminePeptidyl-Dipeptidase A03 medical and health sciencesYoung Adult0302 clinical medicineDopaminePolymorphism (computer science)Internal medicinemedicineHumansReceptor trkBPharmacology (medical)AntipsychoticPharmacologyMembrane GlycoproteinsPolymorphism Geneticbusiness.industryReceptors Dopamine D2medicine.diseaseProlactin030227 psychiatryProlactinHyperprolactinemiaPsychiatry and Mental healthEndocrinologyPsychotic DisordersCohortFemalebusiness030217 neurology & neurosurgerymedicine.drugAntipsychotic AgentsJournal of psychopharmacology (Oxford, England)
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