Search results for "single-nucleotide polymorphism"

showing 10 items of 501 documents

Two-Stage Bayesian Approach for GWAS With Known Genealogy

2019

Genome-wide association studies (GWAS) aim to assess relationships between single nucleotide polymorphisms (SNPs) and diseases. They are one of the most popular problems in genetics, and have some peculiarities given the large number of SNPs compared to the number of subjects in the study. Individuals might not be independent, especially in animal breeding studies or genetic diseases in isolated populations with highly inbred individuals. We propose a family-based GWAS model in a two-stage approach comprising a dimension reduction and a subsequent model selection. The first stage, in which the genetic relatedness between the subjects is taken into account, selects the promising SNPs. The se…

0301 basic medicineStatistics and ProbabilityBayesian probabilityPopulationSingle-nucleotide polymorphismGenome-wide association studyComputational biologyEstadísticaBiologyKinship coefficientModel selection01 natural sciencesBeta-thalassemia010104 statistics & probability03 medical and health sciencesBeta-thalassemia disorderModelsRobust prior distributionRegularizationDiscrete Mathematics and Combinatorics0101 mathematicsStage (cooking)Genetic associationGenome-wide associationModel selectionVariable-selectionProbability and statisticsBayes factorRegressionBayes factor030104 developmental biologyPhenotypeStatistics Probability and UncertaintyGaussian Markov random field
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Whole genome sequencing-based analysis of tuberculosis (TB) in migrants: rapid tools for cross-border surveillance and to distinguish between recent …

2019

14 páginas, 7 figuras

0301 basic medicineTuberculosisEpidemiology030106 microbiologyPopulationSingle-nucleotide polymorphismImmigrationMinisatellite RepeatsBiologyPolymerase Chain ReactionPolymorphism Single NucleotideMigrantslaw.inventionCross-border surveillance03 medical and health scienceslawVirologymedicineHumansTransmissionTuberculosiseducationGenotypingRetrospective StudiesWhole genome sequencingTransients and Migrantseducation.field_of_studySurveillanceMolecular epidemiologyPublic Health Environmental and Occupational HealthMycobacterium tuberculosisEmigration and Immigrationmedicine.diseaseImportationCountry of origin3. Good healthBacterial Typing Techniques030104 developmental biologyTransmission (mechanics)TBEvolutionary biologySpainMolecular epidemiologyWhole genome sequencingSentinel SurveillanceWGSMultilocus Sequence Typing
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Susceptibility to Heart Defects in Down Syndrome Is Associated with Single Nucleotide Polymorphisms in HAS 21 Interferon Receptor Cluster and VEGFA G…

2020

Background: Congenital heart defects (CHDs) are present in about 40&ndash

0301 basic medicineVEGFAAdultHeart Defects CongenitalMaleVascular Endothelial Growth Factor ADown syndromelcsh:QH426-470AdolescentChromosomes Human Pair 21Down syndromeSNPSingle-nucleotide polymorphismBiologyPolymorphism Single NucleotideArticle03 medical and health sciencesHeart disorder0302 clinical medicineGenotypeGeneticsmedicineHumansGeneGenetics (clinical)IFNRReceptors InterferonGeneticsmedicine.diseasePhenotypeHeart defectlcsh:GeneticsVascular endothelial growth factor A030104 developmental biologySettore MED/03 - Genetica Medica030220 oncology & carcinogenesisMultigene Familyheart defectsFemaleChromosome 21SNPsGenes
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Vitamin D and Genetic Susceptibility to Multiple Sclerosis.

2019

Multiple sclerosis (MS) is an autoimmune disease affecting the central nervous system (CNS), resulting from the interaction among genetic, epigenetic, and environmental factors. Vitamin D is a secosteroid, and its circulating levels are influenced by environment and genetics. In the last decades, research data on the association between MS and vitamin D status led to hypothesize a possible role for hypovitaminosis D as a risk factor for MS. Some gene variants encoding proteins involved in vitamin D metabolism, transport, and function, which are responsible for vitamin D status alterations, have been related to MS susceptibility. This review explores the current literature on the influence o…

0301 basic medicineVitaminMaleRiskMultiple SclerosisSNPSingle-nucleotide polymorphismBiologyBiochemistryCalcitriol receptorGenePolymorphism Single Nucleotide03 medical and health scienceschemistry.chemical_compound0302 clinical medicineCYP24A1GeneticCytochrome P-450 Enzyme SystemRisk FactorsGeneticsmedicineGenetic predispositionVitamin D and neurologyHumansMultiple sclerosiGenetic Predisposition to DiseaseVitamin DMolecular BiologyKlothoEcology Evolution Behavior and SystematicsGeneticsMultiple sclerosisGenetic VariationGeneral Medicinemedicine.diseaseVitamin D DeficiencyFibroblast Growth Factor-23030104 developmental biologychemistrySusceptibility030220 oncology & carcinogenesisDisease ProgressionReceptors CalcitriolVitamin D.FemaleBiochemical genetics
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Vitamin D receptor gene ApaI and FokI polymorphisms and its association with inflammation and oxidative stress in vitamin D sufficient Caucasian Span…

2021

Background Vitamin D has gone from being just one vitamin to being an important prohormone with multiple effects on different tissue types. The mechanism of action of the active form or calcitriol is mediated by the intracellular vitamin D receptor (VDR). The interaction of the VDR with calcitriol modulates the expression of target genes involved in cell proliferation and cytokine production. Several studies have explored the effects of vitamin D deficiency in inflammatory disorders. Furthermore, some mutations in the VDR can affect its functionality. The focus of this study was to explore associations between VDR single nucleotide polymorphisms (SNPs) and markers of inflammation and oxidat…

0301 basic medicineVitaminmedicine.medical_specialtyCalcitriolTaqISingle-nucleotide polymorphismCalcitriol receptorvitamin D deficiency03 medical and health scienceschemistry.chemical_compound0302 clinical medicineInternal medicinemedicineVitamin D and neurologybiologybusiness.industrymedicine.diseaseFokI030104 developmental biologyEndocrinologychemistry030220 oncology & carcinogenesisPediatrics Perinatology and Child Healthbiology.proteinbusinessmedicine.drugTranslational Pediatrics
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SNPs in bone-related miRNAs are associated with the osteoporotic phenotype

2017

AbstractBiogenesis and function of microRNAs can be influenced by genetic variants in the pri-miRNA sequences leading to phenotypic variability. This study aims to identify single nucleotide polymorphisms (SNPs) affecting the expression levels of bone-related mature microRNAs and thus, triggering an osteoporotic phenotype. An association analysis of SNPs located in pri-miRNA sequences with bone mineral density (BMD) was performed in the OSTEOMED2 cohort (n = 2183). Functional studies were performed for assessing the role of BMD-associated miRNAs in bone cells. Two SNPs, rs6430498 in the miR-3679 and rs12512664 in the miR-4274, were significantly associated with femoral neck BMD. Further, we…

0301 basic medicineconformation:Diseases::Wounds and Injuries::Fractures Bone::Hip Fractures [Medical Subject Headings]:Phenomena and Processes::Genetic Phenomena::Phenotype [Medical Subject Headings]Polimorfismo de nucleótido simpleGene ExpressionboneOsteoblastosDensidad ósea:Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings]Cohort StudiesGene Frequencysingle nucleotide polymorphismBone DensityBone cellOssosgeneticsFracturas osteoporóticasCells CulturedGeneticsBone mineralMicroARNsMultidisciplinarymicroRNAbiologyQalleleR:Diseases::Wounds and Injuries::Fractures Bone::Osteoporotic Fractures [Medical Subject Headings]clinical trialMiddle Agedcohort analysisPhenotypeHumanosFenotipmedicine.anatomical_structureCancellous BoneosteoblastMedicine:Diseases::Musculoskeletal Diseases::Bone Diseases [Medical Subject Headings]:Phenomena and Processes::Genetic Phenomena::Genotype [Medical Subject Headings]:Anatomy::Cells::Connective Tissue Cells::Osteoblasts [Medical Subject Headings]AlelosFenotipomusculoskeletal diseasesmedicine.medical_specialtyGenotypeScienceSingle-nucleotide polymorphismBiologychemistryPolymorphism Single NucleotideArticleBone and Bones:Anatomy::Musculoskeletal System::Skeleton::Bone and Bones::Cancellous Bone [Medical Subject Headings]03 medical and health sciencesCalcification PhysiologicInternal medicinemicroRNAmedicineHumanshumanproceduresAllele:Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Alleles [Medical Subject Headings]AllelesFemoral neckGenetic associationAgedcell culture:Phenomena and Processes::Musculoskeletal and Neural Physiological Phenomena::Musculoskeletal Physiological Phenomena::Bone Density [Medical Subject Headings]:Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism Genetic::Polymorphism Single Nucleotide [Medical Subject Headings]OsteoblastsEnfermedades óseasFracturas de caderaComputational BiologyCuello femoral:Chemicals and Drugs::Nucleic Acids Nucleotides and Nucleosides::Antisense Elements (Genetics)::RNA Antisense::MicroRNAs [Medical Subject Headings]MicroRNAs030104 developmental biologyEndocrinologymulticenter studybone mineralizationNucleic Acid ConformationOsteoporosispathology:Anatomy::Musculoskeletal System::Skeleton::Bone and Bones::Bones of Lower Extremity::Leg Bones::Femur::Femur Neck [Medical Subject Headings]TranscriptomemetabolismGenotipoFractures
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Polymorphisms within the ARNT2 and CX3CR1 Genes Are Associated with the Risk of Developing Invasive Aspergillosis.

2020

Invasive aspergillosis (IA) is a life-threatening infection that affects an increasing number of patients undergoing chemotherapy or allo-transplantation, and recent studies have shown that genetic factors contribute to disease susceptibility. In this two-stage, population-based, case-control study, we evaluated whether 7 potentially functional single nucleotide polymorphisms (SNPs) within the ARNT2 and CX3CR1 genes influence the risk of IA in high-risk hematological patients. We genotyped selected SNPs in a cohort of 500 hematological patients (103 of those had been diagnosed with proven or probable IA), and we evaluated their association with the risk of developing IA. The association of …

0301 basic medicinehost immunityGenotype030106 microbiologyImmunologyPopulationCX3C Chemokine Receptor 1Single-nucleotide polymorphismARNT2 ; CX3CR1 ; genetic susceptibility; host immunity; invasive aspergillosisBiologyAspergillosisMicrobiologyPolymorphism Single NucleotideRisk Assessment03 medical and health sciencesCX3CR1GenotypemedicineGenetic predispositionBasic Helix-Loop-Helix Transcription FactorsHumansGenetic Predisposition to DiseaseARNT2AlleleeducationInvasive Pulmonary Aspergillosiseducation.field_of_studyinvasive aspergillosisHaplotypeAryl Hydrocarbon Receptor Nuclear TranslocatorPCRAGA Study Groupmedicine.diseaseHematologic Diseases3. Good healthSettore MED/15 - MALATTIE DEL SANGUE030104 developmental biologyInfectious DiseasesAspergillusCase-Control StudiesExpression quantitative trait lociImmunologyParasitologygenetic susceptibility
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Single-nucleotide polymorphism rs1761667 in the CD36 gene is associated with orosensory perception of a fatty acid in obese and normal-weight Morocca…

2020

Abstract Obese subjects have shown a preference for dietary lipids. A recent collection of evidence has proposed that a variant in the CD36 gene plays a significant role in this pathway. We assessed the association between the orosensory detection of a long-chain fatty acid, i.e. oleic acid (OA), and genetic polymorphism of the lipid taste sensor CD36 in obese and normal-weight subjects. Adult participants were recruited in the fasting condition. They were invited to fat taste perception sessions, using emulsions containing OA and according to the three-alternative forced-choice (3-AFC) method. Genomic DNA was used to determine the polymorphism (SNP rs 1761667) of the CD36 gene. Obese (n 50…

0301 basic medicinemedicine.medical_specialtyEndocrinology Diabetes and MetabolismCD36030209 endocrinology & metabolismSingle-nucleotide polymorphismBody fat percentage03 medical and health scienceschemistry.chemical_compound0302 clinical medicineInternal medicineGenotypemedicineSNPchemistry.chemical_classificationNutrition and Dieteticsbiologybusiness.industryFatty acidmedicine.diseaseObesityOleic acid030104 developmental biologyEndocrinologychemistrybiology.proteinbusinessFood ScienceJournal of Nutritional Science
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2016

Summary Background Oesophageal adenocarcinoma represents one of the fastest rising cancers in high-income countries. Barrett's oesophagus is the premalignant precursor of oesophageal adenocarcinoma. However, only a few patients with Barrett's oesophagus develop adenocarcinoma, which complicates clinical management in the absence of valid predictors. Within an international consortium investigating the genetics of Barrett's oesophagus and oesophageal adenocarcinoma, we aimed to identify novel genetic risk variants for the development of Barrett's oesophagus and oesophageal adenocarcinoma. Methods We did a meta-analysis of all genome-wide association studies of Barrett's oesophagus and oesoph…

0301 basic medicinemedicine.medical_specialtyMuscle cell differentiationbusiness.industryGenome-wide association studySingle-nucleotide polymorphismDiseasemedicine.diseaseGastroenterologydigestive system diseases3. Good health03 medical and health sciences030104 developmental biologyOncologyMeta-analysisInternal medicinemedicineAdenocarcinomaSNPbusinessGenetic associationThe Lancet Oncology
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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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