Search results for "single-nucleotide polymorphism"

showing 10 items of 501 documents

Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium

2014

Quantitative ultrasound of the heel captures heel bone properties that independently predict fracture risk and, with bone mineral density (BMD) assessed by X-ray (DXA), may be convenient alternatives for evaluating osteoporosis and fracture risk. We performed a meta-analysis of genome-wide association (GWA) studies to assess the genetic determinants of heel broadband ultrasound attenuation (BUA; n = 14 260), velocity of sound (VOS; n = 15 514) and BMD (n = 4566) in 13 discovery cohorts. Independent replication involved seven cohorts with GWA data (in silico n = 11 452) and new genotyping in 15 cohorts (de novo n = 24 902). In combined random effects, meta-analysis of the discovery and repli…

MaleOncologyHeelBone densityOsteoporosisGenome-wide association studyCohort StudiesFractures Bonequantitative ultrasoundBone DensityGenetics (clinical)riskUltrasonographyAged 80 and overGeneticsmedicine.diagnostic_testAssociation Studies Articlesphenotypesta3141General MedicineMiddle Aged3. Good healthmedicine.anatomical_structureosteoporosis diagnostic radiologic examination roentgen rays ultrasonography bone mineral density fractures calcaneus chromosomes genes genome heel longevity single nucleotide polymorphism sound genetics chromosome 7q31 genotype determination genome-wide association study attenuation osteoporotic fracture risk/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingFemalewomenAdultmusculoskeletal diseasesmedicine.medical_specialtyx-ray absorptiometrySingle-nucleotide polymorphismdensitometryBiologyPolymorphism Single NucleotidecalcaneusYoung AdultSDG 3 - Good Health and Well-beingInternal medicineGeneticsmedicineHumansGenetic Predisposition to DiseaseMolecular BiologyDual-energy X-ray absorptiometryVLAGAgedGlobal NutritionWereldvoedingta1184ta3121medicine.diseaseosteoporosisCalcaneusGenetic epidemiologyfractureOsteoporosismineral densityCalcaneusGenome-Wide Association Study
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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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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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A Polymorphism in a Gene Encoding Perilipin 4 Is Associated with Height but not with Bone Measures in Individuals from the Framingham Osteoporosis St…

2011

There is increasing interest in identifying new pathways and candidate genes that confer susceptibility to osteoporosis. There is evidence that adipogenesis and osteogenesis may be related, including a common bone marrow progenitor cell for both adipocytes and osteoblasts. Perilipin 1 (PLIN1) and Perilipin 4 (PLIN4) are members of the PATS family of genes and are involved in lipolysis of intracellular lipid deposits. A previous study reported gender-specific associations between one polymorphism of PLIN1 and bone mineral density (BMD) in a Japanese population. We hypothesized that polymorphisms in PLIN1 and PLIN4 would be associated with bone measures in adult Caucasian participants of the …

MalePerilipin-1medicine.medical_specialtyCandidate geneGenotypeBone densityEndocrinology Diabetes and MetabolismOsteoporosisSingle-nucleotide polymorphismBiologyPerilipin-4Polymorphism Single NucleotideArticleAbsorptiometry PhotonEndocrinologyBone DensityInternal medicinemedicineBone mineral densityHumansSNPGenetic Predisposition to DiseaseOrthopedics and Sports MedicineHuman heightBone mineralBone geometryFramingham Osteoporosis StudyMiddle AgedPhosphoproteinsmedicine.diseaseBody HeightPerilipin 4EndocrinologyPerilipin 1PerilipinOsteoporosisFemaleCarrier Proteins
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Gender-Specific Association of a Perilipin Gene Haplotype with Obesity Risk in a White Population

2004

Objective: Perilipin is a class of protein-coating lipid droplets in adipocytes and steroidogenic cells. Our purpose was to examine the association between common single-nucleotide polymorphisms (SNPs) at the perilipin (PLIN) locus and obesity, as well as related phenotypes, in unrelated American adults. Research Methods and Procedures: Four PLIN SNPs (PLIN 6209T>C, 11482G>A, 13041A>G, and 14995A>T) were typed in 734 white subjects (373 men and 361 women) attending a residential lifestyle intervention program. The baseline anthropometric and biochemical measures were used. Obesity was defined as BMI ≥ 30 kg/m2. Results: Multivariate analysis demonstrated that, in women, two of the SNPs (130…

MalePerilipin-1medicine.medical_specialtyWaistGenotypeEndocrinology Diabetes and MetabolismMedicine (miscellaneous)Single-nucleotide polymorphismPolymorphism Single NucleotideWhite PeopleBody Mass IndexEndocrinologyWaist–hip ratioInternal medicinemedicineHumansGenetic Predisposition to DiseaseObesityAnalysis of VarianceSex CharacteristicsWaist-Hip Ratiobusiness.industryHaplotypePublic Health Environmental and Occupational HealthDNAOdds ratioMiddle AgedPhosphoproteinsmedicine.diseaseObesityEndocrinologyAdipose TissueHaplotypesBody CompositionLinear ModelsPerilipinFemaleCarrier ProteinsbusinessBody mass indexFood ScienceObesity Research
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Transient Receptor Potential Channel Polymorphisms Are Associated with the Somatosensory Function in Neuropathic Pain Patients

2011

Transient receptor potential channels are important mediators of thermal and mechanical stimuli and play an important role in neuropathic pain. The contribution of hereditary variants in the genes of transient receptor potential channels to neuropathic pain is unknown. We investigated the frequency of transient receptor potential ankyrin 1, transient receptor potential melastin 8 and transient receptor potential vanilloid 1 single nucleotide polymorphisms and their impact on somatosensory abnormalities in neuropathic pain patients. Within the German Research Network on Neuropathic Pain (Deutscher Forscbungsverbund Neuropathischer Schmerz) 371 neuropathic pain patients were phenotypically ch…

MalePharmacologyTransient receptor potential channelTransient Receptor Potential ChannelsAnesthesiologyMolecular Cell BiologyMembrane Receptor SignalingMultidisciplinaryQRMiddle AgedNeurologyHyperalgesiaNeuropathic painMedicineFemaleSensory Perceptionmedicine.symptomResearch ArticleSignal TransductionAdultAnkyrinsGenotypeScienceMedizinische Fakultät -ohne weitere Spezifikation-Receptor potential610TRPV Cation ChannelsSensory systemSingle-nucleotide polymorphism-Polymorphism Single NucleotidemedicineGeneticsHumansPain ManagementGenetic Predisposition to Diseaseddc:610BiologyGenetic Association StudiesAgedHypoalgesiaPolymorphism GeneticPopulation Biologybusiness.industryHuman Geneticsmedicine.diseaseNeuralgiaGenetic PolymorphismNeuralgiabusinessPopulation GeneticsNeuroscience
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