0000000000324291

AUTHOR

Brigitta Bondy

showing 11 related works from this author

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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Association study of suicidal behavior and affective disorders with a genetic polymorphism in ABCG1, a positional candidate on chromosome 21q22.3

2000

The gene that codes for the ABC transporter ABCG1 is located in a chromosomal susceptibility region (21q22.3) for affective disorders. Genetic variations in ABCG1 have been associated with affective disorders in Japanese males. In this study, we investigated the distribution of a G2457A polymorphism in patients with affective disorders, suicide attempters with various psychiatric diagnoses and healthy subjects. We initially found a trend towards a modest association with affective disorders in males (p = 0.046 for allele frequencies and p = 0.046 for AA versus GG). We conducted a replication study with independent patients and controls. There was no association with affective disorders, eit…

AdultGenetic MarkersMaleAdolescentGenotypeChromosomes Human Pair 21Positional candidatePoison controlBiologyChromosome (genetic algorithm)Polymorphism (computer science)GenotypemedicineHumansPharmacology (medical)AlleleAssociation (psychology)Allele frequencyAllelesBiological PsychiatryATP Binding Cassette Transporter Subfamily G Member 1AgedPharmacologyGeneticsPolymorphism GeneticSuicide attemptMood DisordersDNAMiddle Agedmedicine.diseaseSuicidePsychiatry and Mental healthNeuropsychology and Physiological PsychologyMood disordersNeurologyGenetic markerSuicidal behaviorATP-Binding Cassette TransportersFemaleNeurology (clinical)PsychologyEuropean Neuropsychopharmacology
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Association of ADH4 genetic variants with alcohol dependence risk and related phenotypes: results from a larger multicenter association study

2011

Genetic variants of the alcohol-metabolizing enzyme ADH4, located on chromosome 4q22-4q23, have been related to alcohol dependence (AD) risk in previous research. The aim of this association study in a large multicenter sample of alcohol-dependent individuals and controls is to confirm ADH4 single nucleotide polymorphism (SNP) and haplotype association with AD and relevant related phenotypes. One thousand, six hundred and twenty-two (1622) inpatient subjects and 1469 control subjects with DSM-IV. AD from four addiction treatment centres were included. Characteristics of AD and related phenotypes including alcohol withdrawal, Cloninger's type I and II and first ages of drinking, regular drin…

PharmacologyGeneticsPsychiatry and Mental healthADH4HaplotypeAlcohol dependenceMedicine (miscellaneous)SNPADH1BSingle-nucleotide polymorphismBiologyPhenotypeALDH2Addiction Biology
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Association of functional DBH genetic variants with alcohol dependence risk and related depression and suicide attempt phenotypes: Results from a lar…

2012

Abstract Objective Dopamine-beta-hydroxylase (DBH) metabolizes the conversion of dopamine to noradrenaline. DBH, located on chromosome 9q34.2 has variants with potential functional consequences which may be related to alterations of neurotransmitter function and several psychiatric phenotypes, including alcohol dependence (AD), depression (MD) and suicidal behavior (SA). The aim of this association study in a large multicenter sample of alcohol-dependent individuals and controls is to investigate the role of DBH SNPs and haplotypes in AD risk and associated phenotypes (AD with MD or SA). Method 1606 inpatient subjects with DSM-IV AD from four addiction treatment centers and 1866 control sub…

AdultMaleOncologymedicine.medical_specialtyGenotypePoison controlSuicide AttemptedSingle-nucleotide polymorphismDopamine beta-HydroxylaseToxicologyPolymorphism Single NucleotideRisk AssessmentLinkage DisequilibriumGermanyInternal medicinemedicineHumansSNPPharmacology (medical)Age of OnsetDepression (differential diagnoses)PharmacologyDepressive DisorderSex CharacteristicsSuicide attemptAlcohol dependenceHaplotypeDNAMiddle AgedAlcoholismPsychiatry and Mental healthPhenotypeCase-Control StudiesSample SizeEtiologyFemalePsychologyGenome-Wide Association StudyClinical psychologyDrug and Alcohol Dependence
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Analysis of genetic variations of protein tyrosine kinase fyn and their association with alcohol dependence in two independent cohorts.

2003

Abstract Background Decreased sensitivity to and increased tolerance for the effects of alcohol is a phenotype, which was shown to be associated with an increased risk for alcoholism in humans and was observed in protein tyrosine kinase (PTK) fyn knockout mice. Methods We performed an association study of genetic variations of PTK fyn in 430 alcohol-dependent patients and 365 unrelated control subjects from two independent samples. Results In a combined analysis, we found an association of alcohol dependence with the single nucleotide polymorphism (SNP) T137346C in the 5′ untranslated region (UTR) of the gene. A relevant association could be excluded for the remaining two informative SNPs. …

AdultMaleThreonineLinkage disequilibriumGenotypeGlycineSingle-nucleotide polymorphismBiologyProto-Oncogene Proteins c-fynPolymorphism Single NucleotideCohort StudiesFYNGene FrequencyProto-Oncogene ProteinsGenotypeSNPHumansCysteineAlleleBiological PsychiatryGeneticsAlanineChi-Square DistributionAlcohol dependenceGenetic VariationMiddle AgedAlcoholismCase-Control StudiesFemale5' Untranslated RegionsTyrosine kinaseBiological psychiatry
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Possible association between OPRM1 genetic variance at the 118 locus and alcohol dependence in a large treatment sample: relationship to alcohol depe…

2012

Background Several lines of evidence from previous research indicate that opioid receptors play an important role in ethanol reinforcement and alcohol dependence (AD) risk. Conflicting results were reported on the role of the mu-opioid receptor (OPRM1) polymorphism A118G (Asn40Asp, rs1799971) in the development of alcoholism. Methods We investigated a total number of 1,845 alcohol-dependent subjects recruited from inpatient facilities in Germany and 1,863 controls for the mu-opioid receptor (OPRM1) polymorphism using chi-square statistics. Results An association between the OPRM variant and AD was detected (p = 0.022), in recessive (AA vs. GA/GG) and co-dominant (AA vs. GA) models of inheri…

OncologyAdultMalemedicine.medical_specialtymedicine.drug_classReceptors Opioid muMedicine (miscellaneous)Locus (genetics)AlcoholToxicologychemistry.chemical_compoundOpioid receptorInternal medicineGenetic variationmedicineHumansReceptorGenetic Association StudiesGeneticsAlcohol dependenceGenetic VariationMiddle AgedPsychiatry and Mental healthAlcoholismTreatment OutcomechemistryOpioidGenetic LociPopulation SurveillanceMultiple comparisons problemFemalePsychologymedicine.drugAlcoholism, clinical and experimental research
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GRIN1 locus may modify the susceptibility to seizures during alcohol withdrawal

2005

N-Methyl-D-aspartate (NMDA) receptors, members of the glutamate receptor channel superfamily, are generally inhibited by alcohol. The expression and alternative splicing of the obligatory NR1 subunit is altered by alcohol exposure, emphasizing the involvement of the NR1 subunit, which is coded by the GRIN1 gene, in alcohol-mediated effects. We performed an association study in patients with alcohol dependence with the GRIN1 locus. Two independent case control samples consisting of a total of 442 alcohol-dependent patients and 442 unrelated controls were included. There was no overall difference in allele or genotype frequency between patients and controls. However, the 2108A allele and A-co…

Geneticsmedicine.medical_specialtyDelirium tremensbiologyAlcohol dependenceGRIN1Locus (genetics)medicine.diseaseGenotype frequencyCellular and Molecular NeurosciencePsychiatry and Mental healthEpilepsyEndocrinologyInternal medicineGenotypemedicinebiology.proteinAlleleGenetics (clinical)American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
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Potential linkage for schizophrenia on chromosome 22q12-q13: a replication study.

1995

In an attempt to replicate a potential linkage on chromosome 22q12-q13.1 reported by Pulver et al. [1994: Am J Med Genet 54:36–43], we have analyzed 4 microsatellite markers which span this chromosomal region, including the IL2RB locus, for linkage with schizophrenia in 30 families from Israel and Germany. Linkage analysis by pairwise lod score analysis as well as by multipoint analysis did not provide evidence for a single major gene locus. However, a lod score of Zmax = 0.612 was obtained for a dominant model of inheritance with the marker D22S304 at recombination fraction 0.2 by pairwise analysis. In addition, using a non-parametric method, sib pair analysis, a P value of 0.068 correspon…

GeneticsMaleModels GeneticGenetic LinkageChromosomes Human Pair 22Locus (genetics)BiologyMajor genePedigreeGene mappingIL2RBGenetic linkageGermanyChromosomal regionSchizophreniaMicrosatelliteHumansFemaleIsraelGenetics (clinical)Recombination FractionAmerican journal of medical genetics
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Antidepressants are functional antagonists at the serotonin type 3 (5-HT3) receptor

2003

Antidepressants are commonly supposed to enhance serotonergic and/or noradrenergic neurotransmission by inhibition of neurotransmitter reuptake through binding to the respective neurotransmitter transporters or through inhibition of the monoamine oxidase. Using the concentration-clamp technique and measurements of intracellular Ca2+, we demonstrate that different classes of antidepressants act as functional antagonists at the human 5-HT3A receptor stably expressed in HEK 293 cells and at endogenous 5-HT3 receptors of rat hippocampal neurons and N1E-115 neuroblastoma cells. The tricyclic antidepressants desipramine, imipramine, and trimipramine, the serotonin reuptake inhibitor fluoxetine, t…

Serotoninmedicine.medical_specialtySerotonin reuptake inhibitorMirtazapinePharmacologyKidneySerotonergicHippocampusNoradrenergic and specific serotonergic antidepressantCell LineMembrane PotentialsReuptakeNeuroblastomaCellular and Molecular NeuroscienceNorepinephrine reuptake inhibitorCell Line TumorInternal medicineDesipraminemedicineAnimalsHumansSerotonin 5-HT3 Receptor AntagonistsPharmacology (medical)Molecular BiologyNeuronsChemistryGeneral MedicineTrimipramineAntidepressive AgentsRatsPsychiatry and Mental healthEndocrinology5-HT6 receptorCalciumReceptors Serotonin 5-HT3medicine.drugPharmacopsychiatry
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Antipsychotic drugs antagonize human serotonin type 3 receptor currents in a noncompetitive manner

2004

The serotonin type 3 (5-HT(3)) receptor is the only ligand-gated ion channel receptor for serotonin (5-HT). 5-HT(3) receptors play an important role in modulating the inhibitory action of dopamine in mesocorticolimbic brain regions. Neuroleptic drugs are commonly thought to exert their psychopharmacological action mainly through dopamine and serotonin type 2 (5-HT(2)) receptors. Except for clozapine, a direct pharmacological interaction of neuroleptics with 5-HT(3) receptors has not yet been described. Using the concentration-clamp technique, we investigated the effects of flupentixol, various phenothiazines, haloperidol, clozapine and risperidone on Na(+)-inward currents through 5-HT(3) re…

medicine.medical_specialtyPharmacologyKidney5-HT3 receptorCell LineMembrane PotentialsMiceNeuroblastomaCellular and Molecular NeuroscienceDopamineCell Line TumorInternal medicinemedicineAnimalsHumansCalcium SignalingReceptorMolecular BiologyDose-Response Relationship DrugbiologyBrain NeoplasmsChemistryFlupentixolPsychiatry and Mental healthEndocrinologyDopamine receptorCompetitive antagonistbiology.proteinLigand-gated ion channelCalciumSerotoninReceptors Serotonin 5-HT3Ion Channel GatingAntipsychotic AgentsSignal Transductionmedicine.drugMolecular Psychiatry
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Systematic screening for mutations in the human serotonin-2A (5-HT2A) receptor gene: Identification of two naturally occurring receptor variants and …

1996

A statistically significant association between a silent mutation (102T/C) in the serotonin-2A (5-HT2A) receptor gene and schizophrenia has recently been reported in a sample of Japanese patients and healthy controls. This finding suggests that genetic predisposition to schizophrenia may be affected by a functional 5-HT2A receptor variant that is in linkage disequilibrium with 102T/C. In the present study, we have sought to identify genetic variation in the 5-HT2A receptor gene by screening genomic DNA samples from 91 unrelated subjects comprising 45 patients with schizophrenia and 46 healthy controls by using single-strand conformation analysis. We have identified four nucleotide sequence …

Silent mutationLinkage disequilibriumMolecular Sequence DataRestriction MappingBiologymedicine.disease_causePolymerase Chain ReactionReference ValuesGenetic variationConfidence IntervalsGeneticsGenetic predispositionmedicineHumansPoint MutationReceptor Serotonin 5-HT2AAmino Acid SequenceAlleleAllele frequencyAllelesGenetics (clinical)DNA PrimersGenetic associationGeneticsMutationPolymorphism GeneticBase SequenceChromosomes Human Pair 13Chromosome MappingGenetic VariationExonsReceptors SerotoninSchizophreniaHuman Genetics
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