Search results for "single-nucleotide polymorphism"

showing 10 items of 501 documents

EPHA2 polymorphisms and age-related cataract in India.

2012

Objective: We investigated whether previously reported single nucleotide polymorphisms (SNPs) of EPHA2 in European studies are associated with cataract in India. Methods: We carried out a population-based genetic association study. We enumerated randomly sampled villages in two areas of north and south India to identify people aged 40 and over. Participants attended a clinical examination including lens photography and provided a blood sample for genotyping. Lens images were graded by the Lens Opacification Classification System (LOCS III). Cataract was defined as a LOCS III grade of nuclear >= 4, cortical >= 3, posterior sub-capsular (PSC) >= 2, or dense opacities or aphakia/pseudophakia i…

MaleAnatomy and Physiologygenetic structuresEpidemiologymedicine.medical_treatmentlcsh:Medicine0302 clinical medicinePrevalencelcsh:ScienceGenetics0303 health scienceseducation.field_of_studyMultidisciplinaryReceptor EphA2Age FactorsMiddle Aged3. Good healthPhenotypeMedicineFemaleAge-related cataractResearch ArticleAdultmedicine.medical_specialtyGenotypePopulationIndiaSingle-nucleotide polymorphismPolymorphism Single NucleotideCataractWhite People03 medical and health sciencesCataractsOcular SystemOphthalmologyGeneticsmedicineHumansGenetic Predisposition to DiseaseeducationBiologyAged030304 developmental biologyPopulation Biologybusiness.industrylcsh:RHuman GeneticsOdds ratioCataract surgerymedicine.diseaseeye diseasesGenotype frequencyMinor allele frequencyOphthalmology030221 ophthalmology & optometrylcsh:QPhysiological ProcessesbusinessPopulation Genetics

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TNF-alpha gene promoter polymorphisms and risk of venous thromboembolism in gastrointestinal cancer patients undergoing chemotherapy

2013

Abstract Background TNF-α has been proposed as a predictive factor for venous thromboembolism (VTE). Genetic polymorphisms could regulate TNF-α production. However, the relationship between TNFA gene variants and VTE is not clarified. This study aims to investigate the predictive role of five different TNFA gene promoter SNPs, or their haplotype combination(s), for a first VTE episode in gastrointestinal cancer out-patients treated with chemotherapy. Patients and methods Serum TNF-α levels and TNFA -863C/A, -857C/T, -376G/A, -308G/A and -238G/A gene promoter polymorphisms were retrospectively evaluated in 314 subjects, including 157 controls and 157 Caucasian patients with histologically di…

MaleAntimetabolitesSettore MED/06 - Oncologia Medicamedicine.medical_treatmentchemotherapyGastroenterologysingle nucleotide polymorphismschemotherapy; gastrointestinal cancer; single nucleotide polymorphisms; tumour necrosis factor-α; venous thromboembolismsingle nucleotide polymorphismPhytogenic80 and overtumour necrosis factor-αPromoter Regions GeneticGastrointestinal NeoplasmsAged 80 and overHazard ratioSingle NucleotideHematologyMiddle AgedAntineoplasticChemotherapy regimenOncologyFemaleFluorouracilmedicine.drugAdultRiskAntimetabolites Antineoplasticmedicine.medical_specialtygastrointestinal cancervenous thromboembolismAntineoplastic AgentsSingle-nucleotide polymorphismIrinotecanPolymorphism Single NucleotidePromoter RegionsGeneticInternal medicinemedicineHumansGenetic Predisposition to DiseaseGastrointestinal cancercardiovascular diseasesPolymorphismRetrospective StudiesAgedChemotherapyTumor Necrosis Factor-alphabusiness.industryHaplotypeOdds ratiomedicine.diseaseAntineoplastic Agents PhytogenicIrinotecanHaplotypesCase-Control StudiesImmunologyCamptothecinHuman medicinePolymorphism Single Nucleotide; Antimetabolites Antineoplastic; single nucleotide polymorphisms; Humans; Retrospective Studies; Aged; Promoter Regions Genetic; Haplotypes; Aged 80 and over; Adult; gastrointestinal cancer; Genetic Predisposition to Disease; Male; tumour necrosis factor-α; Tumor Necrosis Factor-alpha; Venous Thromboembolism; Camptothecin; chemotherapy; Risk; Fluorouracil; Case-Control Studies; Gastrointestinal Neoplasms; Middle Aged; venous thromboembolism; Antineoplastic Agents Phytogenic; Femalebusiness

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Tumor necrosis-factor-alpha -308 A/G polymorphism is associated with age at onset of Alzheimer's disease.

2006

Abstract Pro-inflammatory cytokines and acute-phase proteins play an important role in Alzheimer's disease (AD) neurodegeneration, and common polymorphisms of genes controlling their production have been shown to be associated with AD. Tumor necrosis factor (TNF)-α is an inflammatory cytokine involved in the local immune response occurring in the central nervous system of AD patients. Genetic variation could contribute to the risk of developing AD or influence the age at the onset of the disease. We genotyped 222 patients (152 women, 70 men; age range 60–87) and 240 non-demented age-matched healthy controls for TNF-α −308 G/A single nucleotide polymorphism (SNP). No significant differences …

MaleApolipoprotein EAgingGenotypemedicine.medical_treatmentSNPSingle-nucleotide polymorphismBiologyPolymorphism Single NucleotideWhite PeopleAlzheimer DiseaseRisk FactorsGenotypecytokinemedicineHumansGenetic Predisposition to DiseaseAge of OnsetAlleleAgedAged 80 and overTumor Necrosis Factor-alphaalzheimer TNF polymorphisms age of onsetMiddle AgedAlzheimer's diseasemedicine.diseaseCytokineItalyinflammationImmunologyFemaleTumor necrosis factor alphaMED/09 - MEDICINA INTERNAAge of onsetAlzheimer's diseaseTNF-alphaDevelopmental Biology

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Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease

2013

Eleven susceptibility loci for late-onset Alzheimer's disease (LOAD) were identified by previous studies; however, a large portion of the genetic risk for this disease remains unexplained. We conducted a large, two-stage meta-analysis of genome-wide association studies (GWAS) in individuals of European ancestry. In stage 1, we used genotyped and imputed data (7,055,881 SNPs) to perform meta-analysis on 4 previously published GWAS data sets consisting of 17,008 Alzheimer's disease cases and 37,154 controls. In stage 2, 11,632 SNPs were genotyped and tested for association in an independent set of 8,572 Alzheimer's disease cases and 11,312 controls. In addition to the APOE locu…

MaleApolipoprotein Eepidemiology [Alzheimer Disease]SORL1Medizingenetics [Alzheimer Disease]Genome-wide association studySingle-nucleotide polymorphismBiologyPolymorphism Single NucleotideArticlePICALMCohort StudiesAlzheimer Diseaseddc:570PSEN2GeneticsmedicineHumansGenetic Predisposition to DiseaseAge of OnsetBiologyAgedGenetic associationAged 80 and overGeneticsMiddle Agedmedicine.diseaseGenetic LociCase-Control StudiesFemaleHuman medicineAlzheimer's diseasestatistics & numerical data [Genome-Wide Association Study]Genome-Wide Association StudyNature Genetics

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Can the TLR-4-mediated signaling pathway be "a key inflammatory promoter for sporadic TAA"?

2014

Thoracic aorta shows with advancing age various changes and a progressive deterioration in structure and function. As a result, vascular remodeling (VR) and medial degeneration (MD) occur as pathological entities responsible principally for the sporadic TAA onset. Little is known about their genetic, molecular, and cellular mechanisms. Recent evidence is proposing the strong role of a chronic immune/inflammatory process in their evocation and progression. Thus, we evaluated the potential role of Toll like receptor- (TLR-) 4-mediated signaling pathway and its polymorphisms in sporadic TAA. Genetic, immunohistochemical, and biochemical analyses were assessed. Interestingly, the rs4986790 TLR4…

MaleArticle SubjectGenotypeImmunologyAortic DiseasesSettore MED/41 - AnestesiologiaSingle-nucleotide polymorphismAorta ThoracicSettore MED/08 - Anatomia PatologicaBiologyPolymorphism Single NucleotideImmune systemPolymorphism (computer science)Genotypelcsh:PathologySettore MED/05 - Patologia ClinicaHumansGenetic Predisposition to DiseaseAgedToll-like receptorPolymorphism GeneticSettore MED/23 - Chirurgia CardiacaCell BiologyMiddle AgedPhenotypeImmunohistochemistryToll-Like Receptor 4medial degeneration sporadic thoracic aortic aneurysm TLR-4 mediated signaling pathway rs4986790 TLR4 polymorphism translation of genetic immunohistochemical and biochemical data clinical practiceImmunologyTLR4Matrix Metalloproteinase 2FemaleSignal transductionlcsh:RB1-214Research ArticleSignal Transduction

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Introduction of an single nucleodite polymorphism-based “Major Y-chromosome haplogroup typing kit” suitable for predicting the geographical origin of…

2005

The European Consortium "High-throughput analysis of single nucleotide polymorphisms for the forensic identification of persons--SNPforID", has performed a selection of candidate Y-chromosome single nucleotide polymorphisms (SNPs) for making inferences on the geographic origin of an unknown sample. From more than 200 SNPs compiled in the phylogenetic tree published by the Y-Chromosome Consortium, and looking at the population studies previously published, a package of 29 SNPs has been selected for the identification of major population haplogroups. A "Major Y-chromosome haplogroup typing kit" has been developed, which allows the multiplex amplification of all 29 SNPs in a single reaction. A…

MaleAsiaClinical BiochemistryPopulationSingle-nucleotide polymorphismBiologyPolymorphism Single NucleotideBiochemistryHaplogroupAnalytical ChemistryHumanseducationGenotypingPhylogenyDNA PrimersGeneticseducation.field_of_studyChromosomes Human YPhylogenetic treeHaplotypeSouth AmericaSingle-base extensionEuropeForensic identificationGenetics PopulationHaplotypesAfricaFemaleELECTROPHORESIS

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4843delC of the BRCA1 gene is a possible founder mutation in Southern Italy (Sicily).

2007

Various studies have been published in Italy regarding the different BRCA1 mutations, but only the BRCA1-5083del19 mutation is recurrent and specific to individuals of Italian descent with a founder effect on the Calabrian population. In our previous study, BRCA1-5083del19 mutation carriers were found in four index cases of 106 Sicilian patients selected for familial and/or hereditary breast/ovarian cancers. The high frequency rate of this mutation identified in the Sicilian population led us to perform haplotype analysis in all family carriers. Five highly polymorphic microsatellite markers were used (D17S1320, D17S932, D17S1323, D17S1326, D17S1325) to establish whether or not all these fa…

MaleBRCA1 gene Founder mutation Haplotype analysis Hereditary breast and ovarian cancer Sicilian patientsSettore MED/06 - Oncologia MedicaGenetic counselingPopulationDNA Mutational AnalysisGenes BRCA1Single-nucleotide polymorphismBreast NeoplasmsBiologyBRCA1 geneHaplotype analysiHumansAlleleeducationAllelotypeFounder mutationSicilyGeneticsOvarian Neoplasmseducation.field_of_studyHaplotypeHematologylanguage.human_languageFounder EffectPedigreeOncologyHaplotypesHaplotype frequencylanguageFemaleSicilianGene DeletionFounder effectGenetic counselingMicrosatellite Repeats

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Interleukin-10 and interleukin-18 promoter polymorphisms in an Italian cohort of patients with undifferentiated carcinoma of nasopharyngeal type.

2004

Purpose: Cytokines such as IL-10 and IL-18 seem to be involved in the inflammatory response of undifferentiated carcinoma of nasopharyngeal type (UCNT). The aim of this study was to evaluate the correlation between functional single nucleotide polymorphisms (SNPs) in the promoter region of IL-10 and IL-18 genes and the virological and clinical characteristics in a large case series of Caucasian patients suffering from UCNT, a tumor regularly associated with the Epstein Barr Virus (EBV). Methods: Eighty-nine patients with histologically confirmed UCNT and 130 healthy donors were included in our study. DNA was examined for the polymorphisms of IL-10 gene at positions –1082, −819, −592 by dire…

MaleCancer ResearchEpstein-Barr Virus InfectionsGenotypeImmunologyNasopharyngeal neoplasmSingle-nucleotide polymorphismBiologyPolymerase Chain ReactionPolymorphism Single NucleotideCohort StudiesInterleukin-10 Interleukin-18 Single nucleotide polymorphisms (SNPs) Undifferentiated carcinoma of nasopharyngeal type (UCNT) Epstein Barr virus (EBV)Risk FactorsGenotypeGenetic predispositionImmunology and AllergyHumansGenetic Predisposition to DiseaseGenetic variabilityAllelePromoter Regions GeneticAllele frequencyInflammationCarcinomaInterleukin-8Case-control studyNasopharyngeal NeoplasmsMiddle AgedPrognosisInterleukin-10OncologyItalyCase-Control StudiesImmunologyFemale

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Integrating genome-wide genetic variations and monocyte expression data reveals trans-regulated gene modules in humans.

2011

One major expectation from the transcriptome in humans is to characterize the biological basis of associations identified by genome-wide association studies. So far, few cis expression quantitative trait loci (eQTLs) have been reliably related to disease susceptibility. Trans-regulating mechanisms may play a more prominent role in disease susceptibility. We analyzed 12,808 genes detected in at least 5% of circulating monocyte samples from a population-based sample of 1,490 European unrelated subjects. We applied a method of extraction of expression patterns—independent component analysis—to identify sets of co-regulated genes. These patterns were then related to 675,350 SNPs to identify maj…

MaleCancer ResearchGene ExpressionGenome-wide association studyGenetic NetworksCoronary Artery Disease[SDV.GEN] Life Sciences [q-bio]/GeneticsCardiovascularMESH: MonocytesMonocytesMESH: HypertensionTranscriptomes0302 clinical medicineMESH: ProteinsMESH: Genetic VariationGenetics (clinical)GeneticsMESH: Aged0303 health scienceseducation.field_of_studyMESH: Middle AgedMESH: Polymorphism Single NucleotideIntracellular Signaling Peptides and ProteinsMESH: Genetic Predisposition to DiseaseGenomicsMESH: Transcription FactorsMiddle AgedMESH: Ribosomal ProteinsMESH: Gene Expression Regulation3. Good healthHypertensionMedicineFemaleMESH: Diabetes Mellitus Type 1Research ArticleAdultRibosomal Proteinslcsh:QH426-470PopulationQuantitative Trait LociLocus (genetics)Single-nucleotide polymorphismBiologyQuantitative trait locusPolymorphism Single Nucleotide03 medical and health sciencesMESH: Gene Expression ProfilingGenome Analysis ToolsGeneticsGenome-Wide Association StudiesHumansGenetic Predisposition to DiseaseGene NetworkseducationMolecular BiologyBiologyEcology Evolution Behavior and SystematicsMESH: Genome Human030304 developmental biologyGenetic associationAdaptor Proteins Signal TransducingAged[SDV.GEN]Life Sciences [q-bio]/GeneticsMESH: HumansGenome HumanGene Expression ProfilingGenetic VariationProteinsHuman GeneticsMESH: AdultAtherosclerosisMESH: MaleMESH: Quantitative Trait LociGene expression profilingCeliac Diseaselcsh:GeneticsDiabetes Mellitus Type 1Gene Expression RegulationExpression quantitative trait lociGenetics of DiseaseMESH: Genome-Wide Association StudyMESH: MuramidaseMuramidaseGenome Expression AnalysisMESH: Female030217 neurology & neurosurgeryMESH: Celiac DiseaseGenome-Wide Association StudyTranscription Factors

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Novel and known genetic variants for male breast cancer risk at 8q24.21, 9p21.3, 11q13.3 and 14q24.1: Results from a multicenter study in Italy

2015

Increasing evidence indicates that common genetic variants may contribute to the heritable risk of breast cancer (BC). In this study, we investigated whether single nucleotide polymorphisms (SNPs), within the 8q24.21 multi-cancer susceptibility region and within BC-associated loci widespread in the genome, may influence the risk of BC in men, and whether they may be associated with specific clinical-pathologic characteristics of male BC (MBC). In the frame of the ongoing Italian Multicenter Study on MBC, we performed a case-control study on 386 MBC cases, including 50 BRCA1/2 mutation carriers, and 1105 healthy male controls, including 197 unaffected BRCA1/2 mutation carriers. All 1491 subj…

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