Search results for "polymorph"

showing 10 items of 2115 documents

Molecular detection of TP53, Ki-Ras and p16INK4A promoter methylation in plasma of patients with colorectal cancer and its association with prognosis…

2006

BACKGROUND:Despite the improvement in detection and surgical therapy in the last years, the outcome of patients affected by colorectal carcinoma (CRC) remains limited by metastatic relapse. The aim of this study was to investigate the presence of free tumor DNA in the plasma of CRC patients in order to understand its possible prognostic role. PATIENTS AND METHODS: Ki-Ras, TP53 mutations and p16(INK4A) methylation status were prospectively evaluated in tumor tissues and plasma of 66 CRC patients. RESULTS: In 50 of the 66 primitive tumor cases (76%) at least one significant alteration was identified in Ki-Ras and/or TP53 and/or p16(INK4A) genes. Eighteen of the 50 patients presented the same …

MaleOncologymedicine.medical_specialtySettore MED/06 - Oncologia MedicaColorectal cancerColorectal carcinoma Free-cell DNA Ki-Ras TP53DiseasePolymerase Chain ReactionInternal medicinePromoter methylationHumansMedicineProspective StudiesPromoter Regions GeneticProspective cohort studyneoplasmsPolymorphism Single-Stranded ConformationalAgedNeoplasm StagingP16 geneUnivariate analysisbusiness.industryGenes p16DNA NeoplasmHematologyMethylationDNA MethylationGenes p53Prognosismedicine.diseaseGenes rasOncologyCell-free fetal DNAFemaleColorectal NeoplasmsbusinessAnnals of Oncology
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Does parental expressed emotion moderate genetic effects in ADHD? An exploration using a genome wide association scan.

2008

Contains fulltext : 70497.pdf (Publisher’s version ) (Closed access) Studies of gene x environment (G x E) interaction in ADHD have previously focused on known risk genes for ADHD and environmentally mediated biological risk. Here we use G x E analysis in the context of a genome-wide association scan to identify novel genes whose effects on ADHD symptoms and comorbid conduct disorder are moderated by high maternal expressed emotion (EE). SNPs (600,000) were genotyped in 958 ADHD proband-parent trios. After applying data cleaning procedures we examined 429,981 autosomal SNPs in 909 family trios. ADHD symptom severity and comorbid conduct disorder was measured using the Parental Account of Ch…

MaleParentsCandidate geneGenetics and epigenetic pathways of disease [NCMLS 6]Medizin2804 Cellular and Molecular NeuroscienceHostilityNeuroinformatics [DCN 3]2738 Psychiatry and Mental Health0302 clinical medicineGene FrequencyPerception and Action [DCN 1]Gene–environment interactionParent-Child RelationsChildGenetics (clinical)NeuregulinsbiologySLC1A1Intracellular Signaling Peptides and Proteins10058 Department of Child and Adolescent PsychiatryPsychiatry and Mental healthExpressed EmotionExcitatory Amino Acid Transporter 3Conduct disorderChild PreschoolFemalemedicine.symptomFunctional Neurogenomics [DCN 2]Clinical psychologyGenetic Markers2716 Genetics (clinical)AdolescentQuantitative Trait Loci610 Medicine & healthSingle-nucleotide polymorphismContext (language use)Mental health [NCEBP 9]Polymorphism Single NucleotideGenomic disorders and inherited multi-system disorders [IGMD 3]Interviews as Topic03 medical and health sciencesCellular and Molecular NeuroscienceCognitive neurosciences [UMCN 3.2]mental disordersmedicineExpressed emotionHumansddc:610Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie Psychosomatik und Psychotherapie des Kindes- und JugendaltersAllelesProbabilityModels Geneticbusiness.industryGenome Humanmedicine.disease030227 psychiatryGenetic defects of metabolism [UMCN 5.1]Attention Deficit Disorder with Hyperactivitybiology.proteinbusiness030217 neurology & neurosurgeryGenome-Wide Association Study
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Intergenerational continuity in parents’ and adolescents’ externalizing problems: The role of life events and their interaction with GABRA2.

2015

We examine whether parental externalizing behavior has an indirect effect on adolescent externalizing behavior via elevations in life events, and whether this indirect effect is further qualified by an interaction between life events and adolescents’ GABRA2 genotype (rs279871). We use data from 2 samples: the Child Development Project (CDP; n = 324) and FinnTwin12 (n = 802). In CDP, repeated measures of life events, mother-reported adolescent externalizing, and teacher-reported adolescent externalizing were used. In FinnTwin12, life events and externalizing were assessed at age 14. Parental externalizing was indexed by measures of antisocial behavior and alcohol problems or alcohol dependen…

MaleParentsExternalizationAdolescentGenotypeTwinsPolymorphism Single NucleotideArticleDevelopmental psychologyLife Change EventsLife eventsmedicineHumansGenetic Predisposition to DiseaseParent-Child RelationsChildta515AllelesBiological PsychiatryAggressionAntisocial personality disorderAlcohol dependenceAntisocial Personality DisorderReceptors GABA-Amedicine.diseaseModerationChild developmentTwin studyGene-environment interactionExternalizingAggressionAlcoholismIntergenerational continuityClinical PsychologyPsychiatry and Mental healthGABRA2FemaleGene-Environment Interactionmedicine.symptomPsychologyPsychopathologyJournal of Abnormal Psychology
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Associations of rs3918242 and rs2285053 MMP-9 and MMP-2 polymorphisms with the risk, severity, and short- and long-term complications of degenerative…

2016

Abstract Background Degenerative forms of mitral valve diseases (MVDs) are very complex pathologies. Thus, it is difficult to make generalizations about the disease pathways or genetic risk factors contributing to these diseases. However, a key role of metalloproteinases (MMPs) in their pathophysiology is emerging. Thus, we performed for the first time a perspective study to assess eventual associations of some functional single nucleotide polymorphisms (SNPs) in MMP-2 and MMP-9 genes with the MVD risk, symptom severity, and short- and long-term (4.8 years) complications. Materials and methods For this purpose, 90 patients and two control groups were genotyped for rs3918242, rs243865, and r…

MalePathologyHeart Valve DiseasesDisease030204 cardiovascular system & hematologyMatrix metalloproteinasers3918242 rs243865 rs2285053 MMP-2 and MMP-9 gene SNPDegenerative forms of mitral valve diseases; Management and outcome; Metalloproteinases; rs3918242 rs243865 rs2285053 MMP-2 and MMP-9 gene SNPs; Aged; Cohort Studies; Female; Genetic Predisposition to Disease; Genotype; Heart Valve Diseases; Humans; Male; Matrix Metalloproteinase 2; Matrix Metalloproteinase 9; Middle Aged; Mitral Valve; Prospective Studies; Risk Factors; Polymorphism Single Nucleotide0403 veterinary scienceCohort Studies0302 clinical mediciners2285053 MMP-2 and MMP-9 gene SNPsRisk FactorsGenotypeManagement and outcomeNatriuretic peptideProspective StudiesProspective cohort studyMVDSMetalloproteinaseDegenerative forms of mitral valve diseases04 agricultural and veterinary sciencesGeneral MedicineSingle NucleotideMiddle AgedMetalloproteinasesPathophysiologyMatrix Metalloproteinase 9Matrix Metalloproteinase 2Mitral ValveFemalers3918242Cardiology and Cardiovascular MedicineDegenerative forms of mitral valve diseasemedicine.medical_specialtyGenotype040301 veterinary sciencesmedicine.drug_class2734Single-nucleotide polymorphismDegenerative forms of mitral valve diseases; Management and outcome; Metalloproteinases; rs3918242 rs243865 rs2285053 MMP-2 and MMP-9 gene SNPs; Cardiology and Cardiovascular Medicine; 2734Polymorphism Single NucleotidePathology and Forensic Medicine03 medical and health sciencesInternal medicinemedicineHumansGenetic Predisposition to Diseasers243865PolymorphismAgedbusiness.industrySettore MED/23 - Chirurgia Cardiacabusiness
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Genome-wide DNA profiling of marginal zone lymphomas identifies subtype-specific lesions with an impact on the clinical outcome

2011

Abstract Marginal zone B-cell lymphomas (MZLs) have been divided into 3 distinct subtypes (extranodal MZLs of mucosa-associated lymphoid tissue [MALT] type, nodal MZLs, and splenic MZLs). Nevertheless, the relationship between the subtypes is still unclear. We performed a comprehensive analysis of genomic DNA copy number changes in a very large series of MZL cases with the aim of addressing this question. Samples from 218 MZL patients (25 nodal, 57 MALT, 134 splenic, and 2 not better specified MZLs) were analyzed with the Affymetrix Human Mapping 250K SNP arrays, and the data combined with matched gene expression in 33 of 218 cases. MALT lymphoma presented significantly more frequently gain…

MalePathologyLymphomaMarginal ZoneBiochemistryExtranodal Diseaseclassification/genetics/pathologyhemic and lymphatic diseases80 and overgeneticsAged 80 and overComparative Genomic HybridizationGenomeMALT lymphomaHematologySingle NucleotideMiddle AgedMarginal zonePrognosisGene Expression Regulation NeoplasticAdult Aged Aged; 80 and over Chromosome Aberrations Comparative Genomic Hybridization DNA Fingerprinting Female Gene Expression Profiling Gene Expression Regulation; Neoplastic Genome; Human Humans Lymphoma; B-Cell; Marginal Zone; classification/genetics/pathology Male Middle Aged Polymorphism; Single Nucleotide; genetics Prognosis Splenic Neoplasms; classification/genetics/pathology Young AdultFemaleHumanAdultmedicine.medical_specialtyGenome-wide DNA profilingImmunologyBiologyPolymorphism Single NucleotideYoung AdultGenome-wide DNA profiling; marginal zone lymphomas; clinical outcome.medicineSNPHumansSplenic marginal zone lymphomaPolymorphismAgedChromosome AberrationsNeoplasticGenome HumanSplenic Marginal Zone Lymphoma; GenomicGene Expression ProfilingSplenic NeoplasmsB-CellLymphoma B-Cell Marginal ZoneCell Biologyclinical outcome.medicine.diseasemarginal zone lymphomaDNA FingerprintingLymphomaGene expression profilingGene Expression RegulationComparative genomic hybridization
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A polymorphism in the cyclooxygenase 2 gene as an inherited protective factor against myocardial infarction and stroke

2004

CONTEXT: Myocardial infarction (MI) and ischemic stroke are thought to be caused by matrix digestion by metalloproteinases (MMPs) leading to rupture of atherosclerotic plaques. Production of macrophage MMP-2 and MMP-9 is induced by cyclooxygenase 2 (COX-2) and prostaglandin E(2) synthesis. Although COX-2 expression may be genetically determined, the relation between COX-2 polymorphisms and the risk of MI and stroke is unclear. OBJECTIVE: To investigate the relationship between the -765G-->C polymorphism of the COX-2 gene and clinically evident plaque rupture. DESIGN, SETTING, AND PARTICIPANTS: Prospective, matched case-control study conducted between March 2002 and October 2003 among 864 pa…

MalePathologySettore MED/09 - Medicina InternaArteriosclerosisCarotid StenosiMyocardial InfarctionInfarctionProstacyclinGastroenterologyCohort StudiesCerebrovascular AccidentrteriosclerosiRisk FactorsGenotypeMedicineCarotid StenosisProspective StudiesMyocardial infarctionMembrane ProteinStrokebiologyGeneral MedicineMiddle AgedIsoenzymesStrokePhenotypeMatrix Metalloproteinase 9Matrix Metalloproteinase 2FemaleHumanmedicine.drugmedicine.medical_specialtyGenotypeArteriosclerosiInternal medicineDiabetes mellitusHumansPolymorphism Geneticbusiness.industryC-reactive proteinProstaglandin-Endoperoxide SynthaseMembrane Proteinsmedicine.diseaseEpoprostenolIsoenzymeProspective StudieAtheromaCyclooxygenase 2Prostaglandin-Endoperoxide Synthasesbiology.proteinCohort Studiebusiness
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Role of TGF-β Pathway Polymorphisms in Sporadic Thoracic Aortic Aneurysm: rs900 TGF-β2 Is a Marker of Differential Gender Susceptibility

2013

Thoracic aortic aneurysm (TAA) is a progressive disorder involving gradual dilation of ascending and/or descending thoracic aorta with dissection or rupture as complications. It occurs as sporadic or defined syndromes/familial forms.Genetic, molecular and cellular mechanims of sporadic TAA forms are poorly characterized and known. Thus, our interest has been focused on investigating the role of genetic variants of transforming growth factor-β(TGF-β) pathways in TAA risk. On the other hand, no data on the role of genetic variants of TGF-βpathway in sporadic TAA exist until now. In addition, other cytokines, including IL-10, orchestrate TAA pathophysiology. Their balance determines the ultima…

MalePathologyThoracicGene FrequencyProtein IsoformsThoracic aortaReceptorSingle Nucleotidesporadic TAAAdult; Aged; Aortic Aneurysm Thoracic; Female; Gene Frequency; Genotype; Humans; Interleukin-10; Male; Middle Aged; Protein Isoforms; Regression Analysis; Sex Factors; Transforming Growth Factor beta2; Genetic Predisposition to Disease; Polymorphism Single NucleotideMiddle AgedPathophysiologyAortic AneurysmInterleukin-10Interleukin 10Regression AnalysisFemaleInflammationResearch Articlelcsh:RB1-214TGF-beta SNPAdultmedicine.medical_specialtyArticle SubjectGenotypeImmunologyBiologyPolymorphism Single NucleotideThoracic aortic aneurysmcomplex mixturesTransforming Growth Factor beta2Sex Factorsmedicine.arteryparasitic diseasesmedicinelcsh:PathologyHumansSNPSettore MED/05 - Patologia ClinicaGenetic Predisposition to DiseasePolymorphismAllele frequencyAgedSettore MED/04 - Patologia GeneraleAortic Aneurysm ThoracicSettore MED/23 - Chirurgia CardiacaCell Biologymedicine.diseasedigestive system diseasesTransforming growth factorTGF-beta SNPs; sporadic TAA; InflammationMediators of Inflammation
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A European family with histidine 58 transthyretin mutation in familial amyloid polyneuropathy

1997

1. IntroductionMore than 50 mutations of the transthyretin (TTR) [1]molecule resulting in different clinical forms of amyloidosisincluding familial amyloid polyneuropathy (FAP) havebeen reported to date. Within this FAP spectrum severaltransthyretin mutations are more frequent, others are rare.One mutation, the codon 58 histidine for leucine has pre-viously been recorded only in American subjects (Mary-land/German type), originally reported in a large kinship[2,3] and in another family from Ohio [4]. In the originaldescription of the Maryland/German type of amyloidosis[2], it was stated that the early immigrants in this pedigreewere from the Rhine river area, "nearly all of them from thelef…

MalePathologymedicine.medical_specialtyAtaxiaAmyloid Neuropathiesmedicine.disease_causeAtrophyLeucineGermanymedicineHumansPoint MutationPrealbuminHistidineCodonGenetics (clinical)Genes DominantMutationDysesthesiabiologybusiness.industryPoint mutationAmyloidosisMiddle Agedmedicine.diseaseUnited StatesTransthyretinNeurologyPediatrics Perinatology and Child Healthbiology.proteinNeurology (clinical)medicine.symptomRestriction fragment length polymorphismbusinessNeuromuscular Disorders
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Portal Vein Thrombosis in a Preterm Newborn with Mutation of the MTHFR and PAI-1 Genes and Sepsis by Candida parapsilosis

2016

Objective This report discusses the role of both congenital and acquired risk factors in the pathogenesis of portal vein thrombosis (PVT). Study Design We describe the clinical management and treatment of PVT in a preterm newborn with a homozygous mutation of the methylenetetrahydrofolate reductase (MTHFR) and plasminogen activator inhibitor-1 (PAI-1) genes and sepsis by Candida parapsilosis. Results Although literature data suggest a minor role of genetic factors in thrombophilia in the case of only one mutation, we hypothesize that combined thrombophilic genetic defects may have a cumulative effect and significantly increase the thrombotic risk. Conclusion It could be appropriate to incl…

MalePathologymedicine.medical_specialtyCandida parapsilosis030204 cardiovascular system & hematologyBioinformaticsCandida parapsilosisThrombophiliaSepsisPathogenesis03 medical and health sciences0302 clinical medicineSepsis030225 pediatricsPlasminogen Activator Inhibitor 1medicineHumansMethylenetetrahydrofolate Reductase (NADPH2)Venous ThrombosisPolymorphism GeneticbiologyPortal Veinbusiness.industryCandidiasisInfant NewbornAnticoagulantsFactor VObstetrics and Gynecologyportal thrombosis fungal infection gene polymorphismmedicine.diseasebiology.organism_classificationPortal vein thrombosisSurgical Procedures OperativeMethylenetetrahydrofolate reductaseMutationPediatrics Perinatology and Child Healthbiology.proteinGene polymorphismbusinessPlasminogen activatorAmerican Journal of Perinatology
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Familial seborrhoeic keratosis associated with multiple 'pure reticulated acanthomas' and infundibulocystic basal cell carcinomas.

2017

Background A variety of genodermatoses with multiple cutaneous tumors with germline genetic alterations such as Gorlin syndrome with PTCH1 gene mutations have been described. Other cutaneous syndromes have been associated with somatic gene mutations, such as FGFR3 in familial seborrhoeic keratosis. Objective We describe the clinical, dermoscopic, and histopathological features of multiple cutaneous lesions, mostly infundibulocystic basal cell carcinomas and pure reticulated acanthomas, present in a family affected by familial seborrhoeic keratosis. In addition, we tested for possible germline alterations in the FGFR3 and PTCH1 genes. Methods Ten members of one family were clinically examine…

MalePathologymedicine.medical_specialtySkin NeoplasmsKeratosisDermoscopyDermatologyGene mutationBiologyGermline030207 dermatology & venereal diseases03 medical and health sciences0302 clinical medicinemedicineHumansReceptor Fibroblast Growth Factor Type 3Keratosis SeborrheicGerm-Line MutationAgedPolymorphism Geneticmedicine.diagnostic_testApocrinePTCH1 GeneMiddle Agedmedicine.diseaseDermatologyPedigreePatched-1 ReceptorPTCH1Carcinoma Basal Cell030220 oncology & carcinogenesisAcanthomaSkin biopsyFemaleAcanthoma
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