Search results for "Allele"

showing 10 items of 1006 documents

Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium.

2012

Myopia is a complex genetic disorder and a common cause of visual impairment among working age adults. Genome-wide association studies have identified susceptibility loci on chromosomes 15q14 and 15q25 in Caucasian populations of European ancestry. Here, we present a confirmation and meta-analysis study in which we assessed whether these two loci are also associated with myopia in other populations. The study population comprised 31 cohorts from the Consortium of Refractive Error and Myopia (CREAM) representing 4 different continents with 55,177 individuals; 42,845 Caucasians and 12,332 Asians. We performed a meta-analysis of 14 single nucleotide polymorphisms (SNPs) on 15q14 and 5 SNPs on …

PopulationLocus (genetics)Genome-wide association studySingle-nucleotide polymorphismBiologyPolymorphism Single Nucleotide03 medical and health sciences0302 clinical medicineMyopiaGeneticsHumansSNPGenetics(clinical)AlleleeducationAllelesGenetics (clinical)Original Investigation030304 developmental biologyGenetic associationGeneticsChromosomes Human Pair 150303 health scienceseducation.field_of_study3. Good healthPhenotype030221 ophthalmology & optometryPopulation studyRE
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A multi-centre study of candidate genes for wheeze and allergy: the International Study of Asthma and Allergies in Childhood Phase 2

2009

BACKGROUND: Common polymorphisms have been identified in genes suspected to play a role in asthma. We investigated their associations with wheeze and allergy in a case-control sample from Phase 2 of the International Study of Asthma and Allergies in Childhood. METHODS: We compared 1105 wheezing and 3137 non-wheezing children aged 8-12 years from 17 study centres in 13 countries. Genotyping of 55 candidate single nucleotide polymorphisms (SNPs) in 14 genes was performed using the Sequenom System. Logistic regression models were fitted separately for each centre and each SNP. A combined per allele odds ratio and measures of heterogeneity between centres were derived by random effects meta-ana…

Positional cloningbusiness.industryImmunologySingle-nucleotide polymorphismOdds ratiomedicine.diseaseIncreased IgE levelWheezeImmunologymedicineMS4A2Immunology and Allergymedicine.symptombusinessAllele frequencyAsthmaClinical & Experimental Allergy
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Italian familial defective apolipoprotein B patients share a unique haplotype with other Caucasian patients.

2001

Familial defective apolipoprotein (apo) B-100 together with familial hypercholesterolemia are the two common genetic conditions that cause hypercholesterolemia. Familial defective apolipoprotein B-100 is due to mutations around codon 3500 of the apo B gene. The most-characterized mutation is a G>A transition at nucleotide 10,708 that results in the substitution of arginine by glutamine at codon 3500 (Apo B Arg3500Gln). Two other mutations are caused by a C>T transition, one at nucleotide 10,800 (Apo B Arg3531Cys) and the other at nucleotide 10,707 (apo B Arg3500Trp). In the present study we describe three new Italian cases of familial defective apolipoprotein B-100 (Apo B Arg3500Gln), one f…

ProbandChinaSettore MED/09 - Medicina InternaApolipoprotein BGlutamineEuropean Continental Ancestry GroupHypercholesterolemiaFamilial hypercholesterolemiamedicine.disease_causeArgininePolymorphism Single NucleotideGeneral Biochemistry Genetics and Molecular BiologyWhite PeopleHaplotypemedicineHumansCysteineAlleleCodonGeneApolipoproteins BGeneticsMutationbiologyTransition (genetics)HaplotypeGeneral Medicinemedicine.diseaseEuropeSettore MED/03 - Genetica MedicaAmino Acid SubstitutionHaplotypesItalyApolipoprotein B-100Mutationbiology.proteinlipids (amino acids peptides and proteins)HumanClinical and experimental medicine
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HUMAN LEUKOCYTE ANTIGEN POLYMORPHISMS IN ITALIAN PRIMARY BILIARY CIRRHOSIS: A MULTICENTER STUDY OF 664 PATIENTS AND 1992 HEALTHY CONTROLS

2008

Genetic factors are critical in determining susceptibility to primary biliary cirrhosis (PBC), but there has not been a clear association with human leukocyte antigen (HLA) genes. We performed a multicenter case-control study and analyzed HLA class II DRB1 associations using a large cohort of 664 well-defined cases of PBC and 1992 controls of Italian ancestry. Importantly, healthy controls were rigorously matched not only by age and sex, but also for the geographical origin of the proband four grandparents (Northern, Central, and Southern Italy). After correction for multiple testing, DRB1*08 [odds ratio (OR), 3.3; 95% confidence interval (CI), 2.4-4.5] and DRB1*02 (OR 0.9; 95% CI 0.8-1.2) …

ProbandLiver CirrhosisMaleCohort StudiesPrimary biliary cirrhosisGene FrequencyModelsGenotype80 and overMedicineskin and connective tissue diseasesAged 80 and overSettore MED/12 - GastroenterologiaLiver Cirrhosis BiliaryMedicine (all)BiliaryMiddle AgedItalyHLA-DRB1 ChainFemaleCase-Control StudieHumanmusculoskeletal diseasesAdultGenotypeHuman leukocyte antigenArticleGeneticGenetic modelHumansGenetic Predisposition to DiseasePolymorphismAllele frequencyAgedPolymorphism GeneticHepatologyModels Geneticbusiness.industryCase-control studyOdds ratioHLA-DR Antigensmedicine.diseaseHLA-DR AntigenAdult; Aged; Aged 80 and over; Case-Control Studies; Cohort Studies; Female; Gene Frequency; Genetic Predisposition to Disease; Genotype; HLA-DR Antigens; Humans; Italy; Liver Cirrhosis Biliary; Male; Middle Aged; Models Genetic; Polymorphism GeneticCase-Control StudiesImmunologyprimary bilairy cirrhosis geneticsCohort StudiebusinessHLA-DRB1 Chains
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BBS1 Mutations in a Wide Spectrum of Phenotypes Ranging From Nonsyndromic Retinitis Pigmentosa to Bardet-Biedl Syndrome

2012

OBJECTIVE: To investigate the involvement of the Bardet-Biedl syndrome (BBS) gene BBS1 p.M390R variant in nonsyndromic autosomal recessive retinitis pigmentosa (RP). METHODS: Homozygosity mapping of a patient with isolated RP was followed by BBS1 sequence analysis. We performed restriction fragment length polymorphism analysis of the p.M390R allele in 2007 patients with isolated RP or autosomal recessive RP and in 1824 ethnically matched controls. Patients with 2 BBS1 variants underwent extensive clinical and ophthalmologic assessment. RESULTS: In an RP proband who did not fulfill the clinical criteria for BBS, we identified a large homozygous region encompassing the BBS1 gene, which carrie…

ProbandMaleBBS1Genetics and epigenetic pathways of disease [NCMLS 6]DNA Mutational AnalysisEvaluation of complex medical interventions Genomic disorders and inherited multi-system disorders [NCEBP 2]GenotypeEthnicityPrevalenceIsraelGeneticseducation.field_of_studyRetinitis Pigmentosa/diagnosisMiddle AgedDisease gene identificationPedigreeEuropePhenotypeFemaleMicrotubule-Associated ProteinsRetinitis PigmentosaAdultcongenital hereditary and neonatal diseases and abnormalitiesCanadaPopulationCanada/epidemiologyMicroscopy AcousticMutation MissenseEthnic GroupsDNA/geneticsBiologyEurope/epidemiologyGenomic disorders and inherited multi-system disorders [IGMD 3]Bardet-Biedl Syndrome/diagnosisBardet–Biedl syndromeRetinitis pigmentosamedicineElectroretinographyHumansAlleleeducationBardet-Biedl SyndromeIsrael/epidemiologyAllelesDNAMicrotubule-Associated Proteins/geneticsmedicine.diseaseOphthalmoscopyOphthalmologyGenetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6]
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Intelligence in DSM-IV combined type attention-deficit/hyperactivity disorder is not predicted by either dopamine receptor/transporter genes or other…

2008

Contains fulltext : 69677.pdf (Publisher’s version ) (Closed access) A major goal of genetic studies of attention deficit hyperactivity disorder (ADHD) is to identify individual characteristics that might help segregate the disorder's inherent heterogeneity. [Mill et al. (2006); Arch Ger Psychiatry 63:462-469] recently reported a potentially important association between two dopamine-related risk polymorphisms (DRD4 variable number tandem repeat (VNTR) in exon 3 and DAT1 VNTR in the 3' UTR) and lowered IQ in ADHD. The objective of the current study was to replicate the [Mill et al. (2006); Arch Ger Psychiatry 63:462-469] findings in a clinical sample and to extend the analysis to a large ra…

ProbandMaleGenetics and epigenetic pathways of disease [NCMLS 6]Intelligence2804 Cellular and Molecular NeuroscienceMedizinNeuroinformatics [DCN 3]Receptors DopamineCohort Studies2738 Psychiatry and Mental Health0302 clinical medicineRisk FactorsPerception and Action [DCN 1]MedicineGenetics(clinical)ChildGenetics (clinical)10058 Department of Child and Adolescent Psychiatry3. Good healthVariable number tandem repeatPsychiatry and Mental healthChild PreschoolFemaleFunctional Neurogenomics [DCN 2]Clinical psychology2716 Genetics (clinical)AdolescentGenotypeSingle-nucleotide polymorphism610 Medicine & healthMental health [NCEBP 9]Genomic disorders and inherited multi-system disorders [IGMD 3]03 medical and health sciencesCellular and Molecular NeuroscienceCognitive neurosciences [UMCN 3.2]mental disordersAttention deficit hyperactivity disorderHumansGenetic Predisposition to Diseaseddc:610Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie Psychosomatik und Psychotherapie des Kindes- und JugendaltersAlleleRisk factorAssociation (psychology)AllelesDopamine Plasma Membrane Transport Proteinsbusiness.industrymedicine.disease030227 psychiatryGenetic defects of metabolism [UMCN 5.1]Genetic markerAttention Deficit Disorder with Hyperactivitybusiness030217 neurology & neurosurgery
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Genetic heterogeneity in ADHD: DAT1 gene only affects probands without CD

2008

Contains fulltext : 70183.pdf (Publisher’s version ) (Closed access) Previous studies have found heterogeneous association between DAT1-3'-UTR-VNTR and attention deficit hyperactivity disorder (ADHD). Various proportions of conduct disorder (CD) comorbidity in their ADHD samples may partially explain the observational discrepancies. Evidence for this comes from family and twin studies which found ADHD probands with CD (ADHD + CD) are genetically different from those without CD (ADHD - CD). Genotypes of 20 DAT1 markers were analyzed in 576 trios, consisting of 141 ADHD + CD and 435 ADHD - CD. In addition to the classical TDT test, a specific genetic heterogeneity test was performed to identi…

ProbandMaleLinkage disequilibriumGenetics and epigenetic pathways of disease [NCMLS 6]2804 Cellular and Molecular NeuroscienceMedizinComorbidityNeuroinformatics [DCN 3]Linkage Disequilibrium2738 Psychiatry and Mental Health0302 clinical medicineGene FrequencyPerception and Action [DCN 1]Genetics(clinical)ChildGenetics (clinical)GeneticsIncidence10058 Department of Child and Adolescent PsychiatryEuropePsychiatry and Mental healthConduct disorder/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingFemaleFunctional Neurogenomics [DCN 2]Conduct DisorderGenetic Markers2716 Genetics (clinical)GenotypeSingle-nucleotide polymorphism610 Medicine & healthBiologyMental health [NCEBP 9]Polymorphism Single Nucleotidebehavioral disciplines and activitiesGenomic disorders and inherited multi-system disorders [IGMD 3]03 medical and health sciencesGenetic HeterogeneityCellular and Molecular NeuroscienceCognitive neurosciences [UMCN 3.2]SDG 3 - Good Health and Well-beingmental disordersmedicineAttention deficit hyperactivity disorderHumansddc:610Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie Psychosomatik und Psychotherapie des Kindes- und JugendaltersAlleleAllelesDopamine Plasma Membrane Transport ProteinsChi-Square DistributionGenetic heterogeneitymedicine.diseaseTwin study030227 psychiatryGenetic defects of metabolism [UMCN 5.1]HaplotypesAttention Deficit Disorder with Hyperactivity030217 neurology & neurosurgery
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Inheritance and variable expression in Rubinstein-Taybi syndrome.

2010

Familial Rubinstein-Taybi syndrome (RTS) is very rare. Here we report on the 6th and 7th case of inherited RTS. Family 1 presents with incomplete or mild RTS over three generations; a 13-year-old girl (proband 1) with mild but typical facial features and learning disabilities, her very mildly affected mother (proband 2), and the maternal grandmother (proband 3). Family 2 includes three females with classical RTS (probands 4-6) and their father (proband 7) with broad thumbs and halluces. Proband 5 also had a brain tumor (ganglioglioma) at the age of 3 years. In probands 1-3, direct sequencing identified a novel CREBBP missense mutation, c.2728A > G (predicting p.Thr910Ala), that was absent i…

ProbandMaleRiskAdolescentDNA Mutational AnalysisMutation MissenseBiologyVariable ExpressionGenetic HeterogeneityGeneticsmedicineMissense mutationHumansPoint MutationFamilyAlleleGenetics (clinical)GeneticsRubinstein-Taybi SyndromeRubinstein–Taybi syndromeGenetic heterogeneityMosaicismPoint mutationmedicine.diseaseCREB-Binding ProteinPedigreePhenotypeChild PreschoolMutation (genetic algorithm)FemaleAmerican journal of medical genetics. Part A
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Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment.

2006

New technology enables expansion of newborn screening (NBS) of inborn errors aimed to prevent adverse outcome. In conditions with a large share of asymptomatic phenotypes, the potential harm created by NBS must carefully be weighed against benefit. Policies vary throughout the United States, Australia, and Europe due to limited data on outcome and treatability of candidate screening conditions. We elaborated the rationale for decision making in 3-methylcrotonyl-coenzyme A (CoA) carboxylase deficiency (MCCD), which afflicts leucine catabolism, with reported outcomes ranging from asymptomatic to death. In Bavaria, we screened 677,852 neonates for 25 conditions, including MCCD, based on elevat…

ProbandMalemedicine.medical_specialtyGenotypePenetranceBiologyAsymptomaticRisk AssessmentCohort StudiesGenetic HeterogeneityNeonatal ScreeningInternal medicineGermanyGeneticsmedicineHumansExpressivity (genetics)Genetics (clinical)AllelesGeneticsNewborn screeningGenetic heterogeneityInfant Newborn3-Methylcrotonyl-CoA carboxylase deficiencymedicine.diseasePenetranceCarbon-Carbon LigasesInborn error of metabolismMutationFemalemedicine.symptomDeficiency DiseasesHuman mutation
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PRENATAL IDENTIFICATION OF A HETEROZYGOUS STATUS IN TWO FETUSES AT RISK FOR GLUCOSE–GALACTOSE MALABSORPTION

1996

Glucose-galactose malabsorption (GGM) is an autosomal recessive disorder which presents with severe osmotic diarrhoea shortly after birth. Two proband siblings with GGM were previously demonstrated to contain a missense mutation (D28N) in the Na + -dependent glucose/galactose cotransporter (SGLTI) that accounts for the defect in sugar absorption. Prenatal screening for GGM was performed in two subsequent pregnancies in this large consanguineous family. The first exon of the SGLTI gene was PCR-amplified from genomic DNA and screened for the presence of the D28N mutation by EcoRV restriction digestion. The proband's sibling was heterozygous and a cousin was not a carrier of the D28N mutation.…

Probandmedicine.medical_specialtyFetusMalabsorptionmedicine.diagnostic_testObstetrics and GynecologyBiologymedicine.diseaseExonEndocrinologyGlucose-galactose malabsorptionInternal medicinemedicineAmniocentesisMissense mutationAlleleGenetics (clinical)Prenatal Diagnosis
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