Search results for " polymorphism"

showing 10 items of 1028 documents

Functional FLT1 genetic variation is a prognostic factor for recurrence in stage I-III non-small cell lung cancer

2015

Background: We propose that single-nucleotide polymorphisms (SNPs) in genes of the vascular endothelial growth factor pathway of angiogenesis will associate with survival in non-small-cell lung cancer (NSCLC) patients. Methods: Fifty-three SNPs in vascular endothelial growth factor-pathway genes were genotyped in 150 European stage I-III NSCLC patients and tested for associations with patient survival. Replication was performed in an independent cohort of 142 European stage I-III patients. Reporter gene assays were used to assess the effects of SNPs on transcriptional activity. Results: In the initial cohort, five SNPs associated (q < 0.05) with relapse-free survival (RFS). The minor allele…

MaleOncologyLung NeoplasmsAngiogenesisBioinformaticsmedicine.disease_causeCohort Studies0302 clinical medicineNon-small cell lung cancerVEGF pathwayCarcinoma Non-Small-Cell LungFLT1Aged 80 and over0303 health sciencesHazard ratioMiddle AgedPrognosis3. Good healthOncology030220 oncology & carcinogenesisFemaleKRASSNPsAdultPulmonary and Respiratory Medicinemedicine.medical_specialtySingle-nucleotide polymorphismPolymorphism Single NucleotideDisease-Free SurvivalArticle03 medical and health sciencesInternal medicineBiomarkers TumormedicineHumansNon–small cell lung cancerSNPLung cancerSurvival analysisAgedNeoplasm Staging030304 developmental biologyVascular Endothelial Growth Factor Receptor-1business.industryGenetic VariationMICROBIOLOGIAmedicine.diseaseSurvival AnalysisMinor allele frequencyNeoplasm Recurrence LocalbusinessEnhancer
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Specific TP53 and/or Ki-ras mutations as independent predictors of clinical outcome in sporadic colorectal adenocarcinomas: results of a 5-year Grupp…

2005

BACKGROUND: Although Ki-ras and TP53 mutations have probably been the genetic abnormalities most exhaustively implicated and studied in colorectal cancer (CRC) progression, their significance in terms of disease relapse and overall survival has not yet clearly been established. PATIENTS AND METHODS: A prospective study was carried out on paired tumor and normal colon tissue samples from a consecutive series of 160 previously-untreated patients, undergoing resective surgery for primary operable sporadic CRC. Mutations within the TP53 (exons 5-8) and Ki-ras (exon 2) genes were detected by PCR-SSCP analyses following sequencing. RESULTS: Mutation analyses of exons 5 to 8 of the TP53 gene showe…

MaleOncologyMultivariate analysisColorectal cancerpolymerase chain reactionmedicine.medical_treatmentLeucovorinColorectal Neoplasmmedicine.disease_causeBioinformaticsExonAntineoplastic Combined Chemotherapy ProtocolsProspective Studiesexongene mutationmultivariate analysiProspective cohort studysingle strand conformation polymorphism MeSH: Adenocarcinomaprotein p53 EMTREE medical terms: adultProto-Oncogene ProteinMutationarticleprotein domainclinical trialHematologyMiddle AgedagedItalypriority journalOncologyChemotherapy AdjuvantLymphatic MetastasisDisease ProgressionFemaleFluorouracilColorectal Neoplasmscancer tissueprognosiprospective studyHumansamplingmedicine.medical_specialtyfolinic acidgene sequenceAdenocarcinomarectum carcinomaProto-Oncogene Proteins p21(ras)outcomes researchProto-Oncogene ProteinsInternal medicinemedicineHumanscontrolled studyneoplasmsGeneNeoplasm StagingChemotherapyEMTREE drug terms: fluorouracillevamisoleAntineoplastic Combined Chemotherapy Protocolcontrolled clinical trialbusiness.industryfluorouracil; folinic acid; K ras protein; levamisole; protein p53 adult; aged; article; cancer tissue; clinical trial; codon; colon adenocarcinoma; colorectal surgery; controlled clinical trial; controlled study; exon; gene mutation; gene sequence; human; human cell; human tissue; Italy; major clinical study; male; multivariate analysis; oncology; outcomes research; polymerase chain reaction; prediction; priority journal; prognosis; prospective study; protein domain; rectum carcinoma; sampling; sequence analysis; single strand conformation polymorphism Adenocarcinoma; Aged; Antineoplastic Combined Chemotherapy Protocols; Chemotherapy Adjuvant; Colorectal Neoplasms; Disease Progression; Female; Fluorouracil; Humans; Leucovorin; Levamisole; Lymphatic Metastasis; Male; Middle Aged; Multivariate Analysis; Mutation; Neoplasm Staging; Prospective Studies; Proto-Oncogene Proteins; ras Proteins; Tumor Suppressor Protein p53 [EMTREE drug terms]human cellLymphatic Metastasipredictionras Proteinmedicine.diseasemajor clinical studyhuman tissueProto-Oncogene Proteins p21(ras)K ras proteinProspective Studiecolon adenocarcinomaMultivariate AnalysisMutationras Proteinscolorectal surgerysequence analysicodonTumor Suppressor Protein p53businessAnnals of Oncology
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Prognostic role of the LCS6 KRAS variant in locally advanced rectal cancer: results of the EXPERT-C trial

2015

KRAS mutation has been reported as a marker of radio-resistance in rectal cancer and unfavourable outcome in both colon and rectal cancer. This study suggests that a single-nucleotide polymorphism of the KRAS gene (LCS-6 variant) may predict response to neoadjuvant treatment and mitigate the poor prognosis associated with KRAS mutation in locally advanced rectal cancer.

MaleOncologyOrganoplatinum CompoundsColorectal cancermedicine.medical_treatmentLET-7 MICRORNA-BINDINGCetuximabmedicine.disease_causeCOLORECTAL-CANCER3'-UNTRANSLATED REGION0302 clinical medicineAntineoplastic Combined Chemotherapy ProtocolsRectal cancerNeoadjuvant therapySingle-nucleotide polymorphism0303 health sciencesCetuximabCOLON-CANCERHazard ratioCAPOX RegimenChemoradiotherapyHematologysingle-nucleotide polymorphismMiddle AgedCombined Modality TherapyNeoadjuvant TherapyBINDING SITE POLYMORPHISM3. Good healthOxaliplatinLet-7Oncology030220 oncology & carcinogenesis5-FLUOROURACIL/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingFemaleKRASLife Sciences & Biomedicinemedicine.drugAdultGenetic Markersmedicine.medical_specialtyGenotypeLCS-6 KRAS variantPolymorphism Single NucleotideDisease-Free SurvivalCLINICAL-TRIALProto-Oncogene Proteins p21(ras)03 medical and health sciencesSDG 3 - Good Health and Well-beinglet-7Internal medicineGastrointestinal TumorsBiomarkers TumorKRASmedicineHumansOncology & CarcinogenesisProgression-free survivalrectal cancerneoplasmsCapecitabineAged030304 developmental biologyCancer och onkologiScience & TechnologyRectal Neoplasmsbusiness.industryOriginal Articlesmedicine.diseasedigestive system diseasesMicroRNAsCancer and Oncologybusiness1112 Oncology And CarcinogenesisChemoradiotherapyRASAnnals of Oncology
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Variation in genes encoding for interferon λ-3 and λ-4 in the prediction of HCV-1 treatment-induced viral clearance

2013

Background & Aims In patients with chronic HCV-1 infection, recent evidences indicate that determination of a dinucleotide polymorphism (ss469415590, ΔG/TT) of a new gene, designated IFN λ-4, might be more accurate than the 12979860CC type of the IL28B locus in predicting sustained virological response (SVR) following peg-interferon and ribavirin. In addition, combined genotyping of different SNPs of the IL28B locus was shown to help dissect patients most prone to SVR among those with rs12979860CT. We examined whether single or combined genotyping of two IL28B SNPs, rs12979860 and rs8099917, and ss469415590 variation might improve the prediction of SVR. Results In the study cohort of 539 pa…

MaleOncologySettore MED/09 - Medicina InternaIL28Bpeg-interferonBioinformaticsPolyethylene GlycolLinkage DisequilibriumPolyethylene GlycolsCohort StudiesIL28B/interferon lambda-3 genechemistry.chemical_compoundGene Frequencypeg-interferon/ribavirinvirus diseasesRecombinant ProteinMiddle AgedViral LoadHepatitis CRecombinant ProteinsTreatment OutcomeHCVCohortFemaleHumanAdultmedicine.medical_specialtyinterferon lambda-3 geneLocus (genetics)Single-nucleotide polymorphismBiologychronic hepatitiInternal medicineRibavirinmedicineHumansSNPAlleleGenotypingGeneinterferon lambda-4 geneAgedPolymorphism GeneticHepatologyInterleukinsRibavirinInterferon-alphaInterleukindigestive system diseaseschemistryInterferonsCohort StudieLiver International
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Lack of association between miR-27a, miR-146a, miR-196a-2, miR-492 and miR-608 gene polymorphisms and colorectal cancer

2014

Colorectal cancer (CRC) is one of the most common cancers worldwide with high mortality rates. MicroRNAs (miRNAs) have an established role in the development of different cancers. Single nucleotide polymorphisms (SNPs) in miRNA related genes were linked with various gastrointestinal malignancies. However, the data on association between miRNA SNPs and CRC development are inconsistent. The aim of the present study was to evaluate the association between miRNA-related gene polymorphisms (miR-27a, miR-146a, miR-196a-2, miR-492 and miR-608) and the presence of CRC in European population. Gene polymorphisms were analyzed in 621 subjects (controls: n = 428; CRC: n = 193). MiR-27a T>C (rs895819), …

MaleOncologymedicine.medical_specialtyGenotypeColorectal cancerSingle-nucleotide polymorphismLower riskPolymorphism Single NucleotideWhite PeopleArticleGene FrequencyRisk FactorsInternal medicinemicroRNAGenotypeOdds RatioHumansMedicineAlleleGeneAllelesAgedGeneticsMultidisciplinarybusiness.industryOdds ratioMiddle Agedmedicine.diseaseMicroRNAsCase-Control StudiesFemaleColorectal NeoplasmsbusinessScientific Reports
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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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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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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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