Search results for "Transmission disequilibrium test"

showing 5 items of 5 documents

Polymorphisms in the N-methyl-D-aspartate receptor 1 and 2B subunits are associated with alcoholism-related traits.

2003

Abstract Background This study examined the hypothesis that allelic variants of the ionotropic glutamatergic N-methyl-D-aspartate receptor (NMDAR) are associated with vulnerability to alcoholism and some related traits. Methods We investigated the silent G2108A and C2664T polymorphisms of the NMDAR1 and the NMDAR2B genes, respectively. The case control study included 367 alcoholic and 335 control subjects of German origin. The family-based study comprised 81 Polish alcoholic patients and their parents using the transmission disequilibrium test. Results The genotype frequencies of the NMDAR1 polymorphism differed significantly between control and alcoholic subjects. This difference was also …

AdultMalemedicine.medical_specialtyGenotypePolymerase Chain ReactionReceptors N-Methyl-D-AspartateGene FrequencyPolymorphism (computer science)Internal medicineGenotypemedicineHumansAlleleBiological PsychiatryAllelesGeneticsDelirium tremensPolymorphism GeneticbiologyCase-control studyGRIN1Transmission disequilibrium testMiddle Agedmedicine.diseaseGenotype frequencyAlcoholismEndocrinologyCase-Control Studiesbiology.proteinFemalePolymorphism Restriction Fragment LengthBiological psychiatry
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No association between two polymorphisms of the serotonin transporter gene and combined type attention deficit hyperactivity disorder.

2008

Contains fulltext : 71091.pdf (Publisher’s version ) (Closed access) Several independent studies have reported association between serotonin transporter gene (SLC6A4) polymorphisms and attention deficit hyperactivity disorder (ADHD). Five studies found evidence for association between the long-allele of a 44-bp insertion/deletion polymorphism (5-HTTLPR) and ADHD. Another two studies corroborated this finding while a further six studies did not find such an association. For a second polymorphism within the gene, a variable number tandem repeat (VNTR) within intron 2, one study demonstrated that the 12/12 genotype was significantly less frequent in ADHD cases compared to controls, while a sec…

Genetics and epigenetic pathways of disease [NCMLS 6]MedizinNeuroinformatics [DCN 3]0302 clinical medicinePolymorphism (computer science)GenotypePerception and Action [DCN 1]Childhealth care economics and organizationsSerotonin transporterGenetics (clinical)GeneticsSerotonin Plasma Membrane Transport Proteins0303 health sciencesDepression030305 genetics & heredityTransmission disequilibrium testhumanitiesVariable number tandem repeatPsychiatry and Mental healthChild Preschool/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingFunctional Neurogenomics [DCN 2]medicine.medical_specialtyAdolescenteducationBiologybehavioral disciplines and activitiesMental health [NCEBP 9]Genomic disorders and inherited multi-system disorders [IGMD 3]03 medical and health sciencesCellular and Molecular NeuroscienceSDG 3 - Good Health and Well-beingCognitive neurosciences [UMCN 3.2]Internal medicinemental disordersmedicineAttention deficit hyperactivity disorderHumansGenetic Predisposition to Diseaseddc:610Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie Psychosomatik und Psychotherapie des Kindes- und JugendaltersAssociation (psychology)Gene030304 developmental biologyFamily HealthPolymorphism Geneticbusiness.industryMood Disordersmedicine.diseaseMoodEndocrinologyMood disordersGenetic defects of metabolism [UMCN 5.1]Attention Deficit Disorder with Hyperactivitybiology.proteinbusiness030217 neurology & neurosurgery
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New insights from GWAS for the cleft palate among han Chinese population

2016

Background Genome wide association studies (GWAS) already have identified tens of susceptible loci for nonsyndromic cleft lip with or without cleft palate (NSCL/P). However, whether these loci associated with nonsyndromic cleft palate only (NSCPO) remains unknown. Material and Methods In this study, we replicated 38 SNPs (Single nucleotide polymorphisms) which has the most significant p values in published GWASs, genotyping by using SNPscan among 144 NSCPO trios from Western Han Chinese. We performed the transmission disequilibrium test (TDT) on individual SNPs and gene-gene (GxG) interaction analyses on the family data; Parent-of-Origin effects were assessed by separately considering trans…

Male0301 basic medicineSingle-nucleotide polymorphismGenome-wide association studyBiologyPolymorphism Single Nucleotide03 medical and health sciencesAsian PeopleGenotypeHumansAlleleGeneral DentistryGenotypingGeneticsResearchTransmission disequilibrium test:CIENCIAS MÉDICAS [UNESCO]Cleft Palate030104 developmental biologyOtorhinolaryngologyMAFBUNESCO::CIENCIAS MÉDICASEpistasisFemaleSurgeryOral SurgeryGenome-Wide Association Study
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BMP7 Gene involved in nonsyndromic orofacial clefts in western han Chinese

2015

Background: Nonsyndromic orofacial clefts (NSOCs) are the most common craniofacial birth defects with complex etiology in which multiple genes and environmental exposures are involved. Bone morphogenetic protein 7 (BMP7), as a member of the transforming growth factor-beta (TGF-beta) superfamily, has been shown to play crucial roles in palate and other orofacial ectodermal appendages development in animal models. Material and Methods: This study was designed to investigate the possible associations between BMP7 gene and the NSOCs (221 case-parent trios) in Western Han Chinese. Five tagSNPs at BMP7, rs12438, rs6099486, rs6127973, rs230188 and rs6025469 were picked and tried to cover the entir…

MaleBone Morphogenetic Protein 7Cleft LipGenetic counselingOdontologíaBiologyAsian PeopleHumansCraniofacialRisk factorAlleleGeneral DentistryGeneGeneticsOral Medicine and PathologyResearchBrainTransmission disequilibrium test:CIENCIAS MÉDICAS [UNESCO]Ciencias de la saludCleft PalateBone morphogenetic protein 7OtorhinolaryngologyUNESCO::CIENCIAS MÉDICASEtiologyFemaleSurgeryMedicina Oral Patología Oral y Cirugia Bucal
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Linkage disequilibrium of MTHFR genotypes 677C/T-1298A/C in the German population and association studies in probands with neural tube defects(NTD).

1999

A number of studies have demonstrated that the common polymorphism 677CT in the gene encoding 5, 10-methylenetetrahydrofolate reductase (MTHFR) leads to a thermolabile variant with decreased enzyme activity and to mildly elevated plasma homocysteine. 677TT homozygosity was shown to be more frequent in NTD probands compared with controls in some studies. Recently, another polymorphism, 1298AC, in the MTHFR gene was described and combined heterozygosity 677CT/1298AC was suggested to be an additional risk factor for NTD. The present study examines the genotype and haplotype distribution of the two polymorphisms in the German population and evaluates the impact on NTD individuals and their rela…

MaleLinkage disequilibriumGenotypePopulationLinkage DisequilibriumFetusGene FrequencyGermanyHumansNeural Tube DefectseducationAllele frequencyGenetics (clinical)AllelesMethylenetetrahydrofolate Reductase (NADPH2)Genetic associationGeneticsFamily Healtheducation.field_of_studyOxidoreductases Acting on CH-NH Group DonorsPolymorphism GeneticbiologyHaplotypeTransmission disequilibrium testDNAGenotype frequencyPedigreeHaplotypesMethylenetetrahydrofolate reductaseCase-Control StudiesPopulation SurveillanceMutationbiology.proteinFemaleAmerican journal of medical genetics
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