Search results for "Single Nucleotide"

showing 9 items of 779 documents

Genome-wide analysis of Italian sheep diversity reveals a strong geographic pattern and cryptic relationships between breeds

2014

Summary Italy counts several sheep breeds, arisen over centuries as a consequence of ancient and recent genetic and demographic events. To finely reconstruct genetic structure and relationships between Italian sheep, 496 subjects from 19 breeds were typed at 50K single nucleotide polymorphism loci. A subset of foreign breeds from the Sheep HapMap dataset was also included in the analyses. Genetic distances (as visualized either in a network or in a multidimensional scaling analysis of identical by state distances) closely reflected geographic proximity between breeds, with a clear north–south gradient, likely because of high levels of past gene flow and admixture all along the peninsula. Sa…

multidimensional scalingOvis ariesGenotypeanalysisIntrogressionContext (language use)BiologyBreedinggenetic diversity; genetic structure; genome-wide single nucleotide polymorphisms; multidimensional scaling; neighbor network; Ovis aries; oviniPolymorphism Single Nucleotidegenome-widegenome-wide single nucleotide polymorphisms; multidimensional scaling; neighbor networksingle nucleotide polymorphismsgenetic diversity; genetic structure; genome-wide; single nucleotide polymorphisms; multidimensional scaling; neighbor network; Ovis ariesGeneticsgenetic structureAnimalsneighbor networkInternational HapMap ProjectGeneticsGenetic diversityGenomeSheepSettore AGR/17 - ZOOTECNICA GENERALE E MIGLIORAMENTO GENETICOgenome-wide single nucleotide polymorphismsGenetic VariationGeneral Medicinegenetic diversitybiology.organism_classificationBreedMouflonPhylogeographyItalyEvolutionary biologyoviniGenetic structureAnimal Science and ZoologyrevealsGenetic isolate
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Interleukin 10 polymorphisms in ankylosing spondylitis.

2003

Genetic polymorphisms of the IL10 promoter region have been implicated in many autoimmune diseases, including seronegative spondyloarthropathies. We studied three SNPs (IL10-1087, -824, and -597) and two microsatellites (IL10R and IL10G) lying within the promoter region of IL10 for association with susceptibility to and clinical manifestations of ankylosing spondylitis (AS), a common form of spondyloarthritis. Four hundred and sixty-eight individuals from 182 Finnish families affected with AS were studied. No association between individual IL10 promoter region polymorphisms or marker haplotype was observed with susceptibility to AS, but weak association was noted between the IL10-597 and -8…

musculoskeletal diseasesImmunologychemical and pharmacologic phenomenaSingle-nucleotide polymorphismBiologyPolymorphism Single Nucleotideimmune system diseasesparasitic diseasesGeneticsmedicineSNPHumansSpondylitis AnkylosingAlleleSpondylitisGenetics (clinical)AllelesGenetic associationGeneticsAnkylosing spondylitisPolymorphism GeneticHaplotypehemic and immune systemsmedicine.diseaseInterleukin-10ImmunologyBASFIMicrosatellite Repeats
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A common biological basis of obesity and nicotine addiction

2013

Contains fulltext : 128630.pdf (Publisher’s version ) (Open Access) Smoking influences body weight such that smokers weigh less than non-smokers and smoking cessation often leads to weight increase. The relationship between body weight and smoking is partly explained by the effect of nicotine on appetite and metabolism. However, the brain reward system is involved in the control of the intake of both food and tobacco. We evaluated the effect of single-nucleotide polymorphisms (SNPs) affecting body mass index (BMI) on smoking behavior, and tested the 32 SNPs identified in a meta-analysis for association with two smoking phenotypes, smoking initiation (SI) and the number of cigarettes smoked …

obesityFOOD-INTAKETAG Consortiummedicine.medical_treatmentOxford-GSK ConsortiumLOCIIcelandAetiology screening and detection [ONCOL 5]VARIANTS3124 Neurology and psychiatryNicotine0302 clinical medicineDEPENDENCE030212 general & internal medicineAge of OnsetENGAGE consortiumPOPULATIONAddiction; Body Mass Index; Nicotine dependence; Smokingmedia_commonPsychiatry2. Zero hunger0303 health scienceseducation.field_of_studyASSOCIATIONTobacco Use DisorderDSM-VCANCER3142 Public health care science environmental and occupational health3. Good healthPsychiatry and Mental healthMeta-analysis/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingOriginal ArticleaddictionLife Sciences & Biomedicinemedicine.drugmedicine.medical_specialtymedia_common.quotation_subjectPopulationbody mass indexPolymorphism Single Nucleotidesmoking03 medical and health sciencesCellular and Molecular NeuroscienceSDG 3 - Good Health and Well-beingInternal medicinemedicineHumansSMOKING-BEHAVIORnicotine dependencePsychiatryeducationBiological PsychiatryMolecular epidemiology Aetiology screening and detection [NCEBP 1]030304 developmental biologyScience & Technologybusiness.industryAddictionAppetitemedicine.diseaseObesityBODY-MASS INDEXBehavior AddictiveEndocrinologySmoking cessationbusinessBody mass indexTranslational Psychiatry
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Biomolecular Investigations in Osteoarthritis

2012

osteoarthritis single nucleotide polymorphism
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Common variants at VRK2 and TCF4 conferring risk of schizophrenia

2011

To access publisher full text version of this article. Please click on the hyperlink in Additional Links field. Common sequence variants have recently joined rare structural polymorphisms as genetic factors with strong evidence for association with schizophrenia. Here we extend our previous genome-wide association study and meta-analysis (totalling 7 946 cases and 19 036 controls) by examining an expanded set of variants using an enlarged follow-up sample (up to 10 260 cases and 23 500 controls). In addition to previously reported alleles in the major histocompatibility complex region, near neurogranin (NRGN) and in an intron of transcription factor 4 (TCF4), we find two novel variants show…

schizophrenia; sequence variants; TCF4Genome-wide association studyTranscription Factor 40302 clinical medicineVRK2 protein humanPolymorphism (computer science)Genotypegenetics [Schizophrenia]NeurograninGenetics (clinical)Schizophrenia; Genotype; Risk; Alleles; Polymorphism Single Nucleotide; Transcription Factors; Humans; Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; Genetic Predisposition to Disease; Protein-Serine-Threonine Kinases; Genome-Wide Association StudyGenetics0303 health sciencesBasic Helix-Loop-Helix Leucine Zipper Transcription FactorsAssociation Studies ArticlesSingle NucleotideGeneral MedicineTCF4genetics [Transcription Factors]Protein-Serine-Threonine Kinases3. Good healthJRiskGenotypeProtein Serine-Threonine KinasesBiologyPolymorphism Single Nucleotidegenetics [Protein-Serine-Threonine Kinases]Molecular epidemiology [NCEBP 1]03 medical and health sciencesddc:570GeneticsHumansGenetic Predisposition to DiseasePolymorphismAllelegenetics [Basic Helix-Loop-Helix Leucine Zipper Transcription Factors]Settore MED/25 - PsichiatriaMolecular BiologyAllelesTCF4Molecular epidemiology Aetiology screening and detection [NCEBP 1]030304 developmental biologysequence variantsIntronOdds ratioMolecular biologySchizophreniaTCF4 protein human030217 neurology & neurosurgeryGenome-Wide Association StudyTranscription Factors
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Large-scale genotyping identifies 41 new loci associated with breast cancer risk

2013

Journal article Breast cancer is the most common cancer among women. Common variants at 27 loci have been identified as associated with susceptibility to breast cancer, and these account for ~9% of the familial risk of the disease. We report here a meta-analysis of 9 genome-wide association studies, including 10,052 breast cancer cases and 12,575 controls of European ancestry, from which we selected 29,807 SNPs for further genotyping. These SNPs were genotyped in 45,290 cases and 41,880 controls of European ancestry from 41 studies in the Breast Cancer Association Consortium (BCAC). The SNPs were genotyped as part of a collaborative genotyping experiment involving four consortia (Collaborat…

signaling pathwayGenotypingGenotypeSingle-nucleotide polymorphismGenome-wide association studyBreast NeoplasmsconsortiumBiologyBreast Neoplasms; Case-Control Studies; Cooperative Behavior; Female; Gene-Environment Interaction; Genetic Loci; Genome-Wide Association Study; Genotype; Humans; Meta-Analysis as Topic; Polymorphism Single Nucleotide; Risk Factors; Genetic Predisposition to Disease; GeneticsPolymorphism Single NucleotideArticle03 medical and health sciences0302 clinical medicineBreast cancerSDG 3 - Good Health and Well-beingMeta-Analysis as TopicRisk FactorsGenotypecommon variantsexpressionGeneticsmedicineHumansGenetic Predisposition to DiseasePolymorphismCooperative BehaviorgeneGenotypinghormone-related protein030304 developmental biologyGenetic associationGenetics0303 health sciencesBreast cancer susceptibilityCancerSingle Nucleotidemedicine.diseaseconfer susceptibilitysusceptibility loci3. Good health14q24.1 rad51l1TOX3Genetic Loci030220 oncology & carcinogenesisCase-Control Studiesgenome-wide associationFemaleGene-Environment InteractionGenome-Wide Association Study
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Biomolecular investigation in osteoarthritis

2012

single nucleotide polymorphism osteoarthritis
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Genomic Tools for the Characterization of Local Animal Genetic Resources: Application in Mascaruna Goat

2022

Italy contains a large number of local goat populations, some of which do not have a recognized genetic structure. The “Mascaruna” is a goat population reared for milk production in Sicily. In this study, a total of 72 individuals were genotyped with the Illumina Goat_IGGC_65K_v2 BeadChip with the aim to characterize the genetic diversity, population structure and relatedness with another 31 Italian goat populations. The results displayed a moderate level of genetic variability for Mascaruna, in concordance with the estimated values for Italian goats. Runs of homozygosity islands are linked to genes involved in milk production, immune response and local adaptation. Population structure anal…

single nucleotide polymorphismsSettore AGR/17 - Zootecnica Generale E Miglioramento Geneticolocal goat; single nucleotide polymorphisms; genetic structuregenetic structure local goat single nucleotide polymorphismsGeneral Veterinarygenetic structureAnimal Science and Zoologylocal goat
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Variants in ZFHX3 are associated with atrial fibrillation in individuals of European ancestry

2009

We conducted meta-analyses of genome-wide association studies (GWAS) for atrial fibrillation (AF) in participants from five community-based cohorts. Meta-analyses of 896 prevalent (15,768 referents) and 2,517 incident (21,337 referents) AF cases identified a novel locus for AF (ZFHX3, rs2106261, risk ratio [RR]=1.19; P=2.3×10−7), an association that was replicated in the German AF Network (odds ratio=1.44; P=1.6×10−11). Combining the discovery and replication results, rs2106261 was significantly associated with AF (RR=1.25; P=1.8×10−15).

single nucleotideEuropean Continental Ancestry Group/*geneticsmedicine.medical_specialtyMutation/*geneticsGenome-wide association study030204 cardiovascular system & hematologyBiologyPolymorphism Single NucleotideArticleWhite PeoplepolymorphismHomeodomain Proteins/*genetics03 medical and health sciences0302 clinical medicineMeta-Analysis as TopicInternal medicineAtrial FibrillationGeneticsmedicineHumansGenetic Predisposition to Disease030304 developmental biologyGenetic associationHomeodomain Proteinsddc:6160303 health sciencesAtrial Fibrillation/*geneticsReproducibility of ResultsAtrial fibrillationOdds ratioPolymorphism Single Nucleotide/geneticsmedicine.disease*Genetic Predisposition to DiseaseMeta-analysisRelative riskMutationCohortepidemiologyChromosomes Human Pair 16/geneticsChromosomes Human Pair 16Genome-Wide Association StudyNature Genetics
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