Search results for "nucleotide polymorphism"

showing 10 items of 544 documents

Association of RBP4 genetic variants with childhood obesity and cardiovascular risk factors

2015

Background Recent data suggest that retinol-binding protein 4 (RBP4) gene variants could be associated with a risk of obesity and its co-morbidities, such as metabolic syndrome, which increases the risk of developing type 2 diabetes mellitus and cardiovascular disease. Objectives The present study examined the potential association of RBP4 single nucleotide polymorphisms (SNPs) with childhood obesity and its metabolic complications. Methods Four RBP4 SNPs, rs3758538 (3944A>C), rs3758539 (4406G>A), rs12265684 (12177G>C) and rs34571439 (14684T>G), were genotyped in a population of 180 Spanish Caucasian children (97 obese and 83 normal-weight children). Association of RBP4 SNPs with obesity, m…

0301 basic medicinemedicine.medical_specialtyeducation.field_of_studybusiness.industryEndocrinology Diabetes and MetabolismPopulation030209 endocrinology & metabolismSingle-nucleotide polymorphismOdds ratiomedicine.diseaseObesityChildhood obesityMinor allele frequency03 medical and health sciences030104 developmental biology0302 clinical medicineEndocrinologyInsulin resistanceInternal medicinePediatrics Perinatology and Child HealthInternal MedicinemedicineMetabolic syndromeeducationbusinessPediatric Diabetes
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Penalized classification for optimal statistical selection of markers from high-throughput genotyping: application in sheep breeds

2018

The identification of individuals’ breed of origin has several practical applications in livestock and is useful in different biological contexts such as conservation genetics, breeding and authentication of animal products. In this paper, penalized multinomial regression was applied to identify the minimum number of single nucleotide polymorphisms (SNPs) from high-throughput genotyping data for individual assignment to dairy sheep breeds reared in Sicily. The combined use of penalized multinomial regression and stability selection reduced the number of SNPs required to 48. A final validation step on an independent population was carried out obtaining 100% correctly classified individuals. …

0301 basic medicinepenalized multinomial regression stability selection sheep breeds livestock genetic resources single nucleotide polymorphism markersGenotypePopulationSingle-nucleotide polymorphismComputational biologyBreedingBiologySF1-1100Polymorphism Single Nucleotidesheep breeds03 medical and health sciencesSettore AGR/17 - Zootecnica Generale E Miglioramento Geneticolivestock genetic resourcessingle nucleotide polymorphism markersAnimalseducationGenotypingSelection (genetic algorithm)Multinomial logistic regressionGeneticsPrincipal Component Analysiseducation.field_of_studySheeppenalized multinomial regressionHigh-Throughput Nucleotide SequencingBreedstability selectionAnimal cultureRandom forest030104 developmental biologyPrincipal component analysisAnimal Science and ZoologySettore SECS-S/01 - StatisticaBiomarkers
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Research Article <i>CD40</i> rs4810485 <i>T>G</i> polymorphism and susceptibility to ankylosing spondylitis in the Latvian…

2018

Ankylosing spondylitis (AS) is a potentially disabling form of a systemic chronic inflammatory arthritis affecting mainly the axial skeleton, with or without extraspinal manifestations. The genetic basis of AS is partly known. Moreover, many autoimmunityrelated genes have pleiotropic effects. Multiple functional polymorphisms in the genes encoding the tumor necrosis factor (TNF) superfamily of cytokines, their receptors, and signaling proteins, are associated with susceptibility to autoimmune diseases. These arguments prompted us to conduct a study evaluating a possible association of single nucleotide polymorphism (SNP) rs4810485 of the CD40 gene, found previously to be involved in other i…

030203 arthritis & rheumatology0301 basic medicineeducation.field_of_studyAnkylosing spondylitisbusiness.industryInflammatory arthritisPopulationSingle-nucleotide polymorphismGeneral Medicinemedicine.diseaseMinor allele frequency03 medical and health sciences030104 developmental biology0302 clinical medicineGenotypeImmunologyGeneticsmedicineGene polymorphismAlleleeducationbusinessMolecular BiologyGenetics and Molecular Research
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Molecular characterisation of k-casein gene in Girgentana dairy goat breed and identification of two new alleles

2015

The k-casein fraction plays an important role in the formation, stabilisation and aggregation on casein micelles and thus affects technological and nutritional properties of milk. In this study, exon 4 of k-casein (CSN3) gene was sequenced and analysed in Girgentana goat breed. Analyses of the obtained sequences showed the presence of A, B, D, and G known alleles and two new genetic variants, named D’ and N. The new D’ allele differs from D in one transition, G284→A284, which did not cause amino acid change. The new N allele differs from A in five single nucleotide polymorphisms (SNPs): T245/C245, G284/A284, G309/A309, G471/A471 and T591/C591, while it differs from C in one transition, i.e.…

040301 veterinary sciencesSingle-nucleotide polymorphismBiology0403 veterinary scienceExonNew allelesSettore AGR/17 - Zootecnica Generale E Miglioramento GeneticoCaseinGenetic variationGenotypeGirgentana goat breedPolymorphismGirgentana goat breeds.AlleleGenelcsh:SF1-1100Geneticschemistry.chemical_classification0402 animal and dairy scienceCSN3 gene04 agricultural and veterinary sciences040201 dairy & animal scienceMolecular biologyAmino acidCSN3 gen; Polymorphisms; New alleles; Girgentana goat breeds.CSN3 genchemistryAnimal Science and Zoologylcsh:Animal culturePolymorphismsNew allele
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Integrated CGH/WES Analyses Advance Understanding of Aggressive Neuroblastoma Evolution: A Case Study

2021

Neuroblastoma (NB) is the most common extra-cranial malignancy in preschool children. To portray the genetic landscape of an overly aggressive NB leading to a rapid clinical progression of the disease, tumor DNA collected pre- and post-treatment has been analyzed. Array comparative genomic hybridization (aCGH), whole-exome sequencing (WES), and pharmacogenetics approaches, respectively, have identified relevant copy number alterations (CNAs), single nucleotide variants (SNVs), and polymorphisms (SNPs) that were then combined into an integrated analysis. Spontaneously formed 3D tumoroids obtained from the recurrent mass have also been characterized. The results prove the power of combining C…

3D tumoroids; Array CGH; Clonal evolution; Neuroblastoma; Pharmacogenetics; Recurrent tumor; Single nucleotide variants; Whole exome sequencing; Child Preschool; Disease Progression; Drug Resistance Neoplasm; Fatal Outcome; Humans; Immunophenotyping; Neuroblastoma; Polymorphism Single Nucleotide; Comparative Genomic Hybridization; Whole Exome SequencingQH301-705.5Drug Resistanceclonal evolutionCase Report3D tumoroidsSingle-nucleotide polymorphismDiseaseComputational biologyBiologyMalignancyPolymorphism Single NucleotideSomatic evolution in cancerImmunophenotypingwhole exome sequencingNeuroblastomaFatal OutcomeNeuroblastomaExome SequencingmedicineHumansarray CGHrecurrent tumorPolymorphismBiology (General)ChildPreschoolExome sequencingTumorsComparative Genomic HybridizationSingle NucleotideGeneral Medicinemedicine.diseaseSingle nucleotide variantsDrug Resistance NeoplasmPharmacogeneticsChild PreschoolDisease ProgressionFarmacogenèticaNeoplasmPharmacogeneticsComparative genomic hybridization
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Binding mode analysis of ABCA7 for the prediction of novel Alzheimer's disease therapeutics

2021

Graphical abstract

ATP Adenosine-triphosphateNBD nucleotide binding domainGSH reduced glutathionePolypharmacologyAlzheimer’s disease (AD)ATP-binding cassette transporterHTS high-throughput screeningBiochemistryABCA7Structural BiologyPLIF protein ligand interactionMSD membrane spanning domainPDB protein data bankTM transmembrane helixABC ATP-binding cassetteMultitarget modulation (PANABC)RMSD root mean square distanceABC transporter (ABCA1 ABCA4 ABCA7)Computer Science ApplicationsMOE Molecular Operating EnvironmentPharmacophoreSNP single-nucleotide polymorphismBiotechnologyResearch ArticleBBB blood-brain barrierBiophysicsDrug designComputational biologyBiologyAD Alzheimer’s diseasePET positron emission tomographyIC intracellular helixAPP amyloid precursor proteincryo-EM cryogenic-electron microscopyGeneticsHomology modelingBinding siteRational drug design and developmentComputingMethodologies_COMPUTERGRAPHICSNBD-cholesterol 7-nitro-2-13-benzoxadiazol-4-yl-cholesterolTransporterPSO particle swarm optimizationPET tracer (PETABC)ECD extracellular domainR-domain/region regulatory domain/regionABCA1biology.proteinEH extracellular helixTP248.13-248.65BODIPY-cholesterol 44-difluoro-4-bora-3a4a-diaza-s-indacene-cholesterolComputational and Structural Biotechnology Journal
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A melanocortin 1 receptor (MC1R) gene polymorphism is useful for authentication of Massese sheep dairy products

2011

Massese is an Italian sheep breed, with black or grey coat colour, mainly reared in the Tuscany and Emilia Romagna regions. Recently, the emerging interests in this breed have resulted in the production of Pecorino cheese obtained with only Massese milk. In order to be profitable, this marketing link between Massese breed and its products should be defended against fraudsters who could include milk of other sheep breeds or cow milk in Massese labelled productions. To identify the genetic factors affecting coat colour in sheep, we have recently analysed the melanocortin 1 receptor (MC1R) gene and identified several single nucleotide polymorphisms (SNPs). In this work, as a first step to set …

AUTHENTICATION OF FOOD PRODUCTSCoatVeterinary medicineSNPFood ContaminationSingle-nucleotide polymorphismBiologyPolymerase Chain ReactionPolymorphism Single NucleotideSensitivity and SpecificityMASSESECow milkSettore AGR/17 - Zootecnica Generale E Miglioramento GeneticoGene FrequencySpecies SpecificityCheesePolymorphism (computer science)MC1RAnimalsAlleleGeneticsSheepfood and beveragesDNAGeneral MedicineBreedMilkFemaleAnimal Science and ZoologyDairy Productsauthentication Massese MC1R mono-breed products sheep breeds SNPReceptor Melanocortin Type 1DAIRY SHEEPPolymorphism Restriction Fragment LengthMc1r geneFood ScienceMelanocortin 1 receptor
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Genetic variation and urine cadmium levels: ABCC1 effects in the Strong Heart Family Study

2021

Abstract Genetic effects are suspected to influence cadmium internal dose. Our objective was to assess genetic determinants of urine cadmium in American Indian adults participating in the Strong Heart Family Study (SHFS). Urine cadmium levels and genotyped short tandem repeat (STR) markers were available on 1936 SHFS participants. We investigated heritability, including gene-by-sex and smoking interactions, and STR-based quantitative trait locus (QTL) linkage, using a variance-component decomposition approach, which incorporates the genetic information contained in the pedigrees. We also used available single nucleotide polymorphisms (SNPs) from Illumina’s Metabochip and custom panel to ass…

Adult010504 meteorology & atmospheric sciencesGenotypeChromosomal Proteins Non-HistoneGenetic LinkageHealth Toxicology and MutagenesisQuantitative Trait Locichemistry.chemical_elementPhysiologyLocus (genetics)Single-nucleotide polymorphismUrine010501 environmental sciencesQuantitative trait locusBiologyToxicology01 natural sciencesPolymorphism Single NucleotideArticleGenetic variationHumans0105 earth and related environmental sciencesGeneral Environmental ScienceGeneticsCadmiumPhosphoric Diester HydrolasesGeneral MedicineHeritabilityPollutionchemistryMicrosatelliteGeneral Earth and Planetary SciencesMultidrug Resistance-Associated ProteinsCadmiumISEE Conference Abstracts
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Comparative genetic study of intratumoral heterogenous MYCN amplified neuroblastoma versus aggressive genetic profile neuroblastic tumors.

2016

Intratumoral heterogeneous MYCN amplification (hetMNA) is an unusual event in neuroblastoma with unascertained biological and clinical implications. Diagnosis is based on the detection of MYCN amplification surrounded by non-amplified tumor cells by fluorescence in situ hybridization (FISH). To better define the genetic features of hetMNA tumors, we studied the Spanish cohort of neuroblastic tumors by FISH and single nucleotide polymorphism arrays. We compared hetMNA tumors with homogeneous MNA (homMNA) and nonMNA tumors with 11q deletion (nonMNA w11q-). Of 1091 primary tumors, 28 were hetMNA by FISH. Intratumoral heterogeneity of 1p, 2p, 11q and 17q was closely associated with hetMNA tumor…

Adult0301 basic medicineCancer ResearchCandidate geneAdolescentGene DosageSingle-nucleotide polymorphismBiologyPolymorphism Single NucleotideGene dosageGenetic profileCohort StudiesNeuroblastomaYoung Adult03 medical and health sciences0302 clinical medicineNeuroblastomaGeneticsmedicineHumansChildMolecular BiologyIn Situ Hybridization FluorescenceAgedAged 80 and overOncogene ProteinsGeneticsN-Myc Proto-Oncogene Proteinmedicine.diagnostic_testChromosomes Human Pair 11Nuclear ProteinsChromosomeMiddle Agedmedicine.diseaseNeuroblastic Tumor030104 developmental biologyChromosomes Human Pair 1Child PreschoolChromosomes Human Pair 2030220 oncology & carcinogenesisCancer researchChromosome DeletionChromosomes Human Pair 17Fluorescence in situ hybridization
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Association of Klotho Polymorphisms with Healthy Aging: A Systematic Review and Meta-Analysis

2013

Today it is clearly evident that genetic background constitutes an integral part of aging and longevity. Many studies on long-lived people have been conducted emphasizing the role of certain genes in long life. Classic case-control studies, genome-wide association studies, and high-throughput sequencing have permitted identification of a variety of genetic variants seemingly associated with longevity. Over the years, aging research has focused on the insulin/insulin-like growth factor-1 (IGF-1) signaling pathway because of its evolutionarily conserved correlation with life-span extension in model animals. Indeed, many single-nucleotide polymorphisms (SNPs) associated with longevity were ide…

AdultAgingmedia_common.quotation_subjectGenome-wide association studySingle-nucleotide polymorphismBiologyPolymorphism Single NucleotideYoung AdultHumansGenetic Predisposition to DiseaseKlotho ProteinsKlothoGeneAgedGlucuronidasemedia_commonGenetic associationLongevity Ageing Klotho Meta-AnalysisSettore MED/04 - Patologia GeneraleAged 80 and overGeneticsInfant NewbornLongevityInfantMiddle AgedMembrane proteinHealthCase-Control StudiesGeriatrics and GerontologySignal transductionGenome-Wide Association StudyRejuvenation Research
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