Search results for "nucleotide polymorphism"

showing 10 items of 544 documents

BOVITA: a first overview on genome-wide genetic diversity of Italian autochthonous cattle breeds

2017

breedsItalycattleparasitic diseasessingle nucleotide polymorphism inbreeding genomic diversity population structure Italian cattle breedsgenomic data cattle Italy breedsgenomic data
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Role of genetic polymorphisms in myocardial infarction at young age

2010

Acute myocardial infarction (AMI) in young adult presents a typical pattern of risk factors, clinical, angiographic and prognostic characteristics. In the last years we demonstrated that hemorheological profile is altered in these patients in a persistent way and independently of the number of risk factors and of the extent of coronary lesions. Thus, the hyperviscosity syndrome following AMI could be considered an intrinsic characteristic of these patients. Consequently it is possible to hypothesise the presence of a genetic background at the origin of this predisposition. If this background is able to influence the risk of ischemic heart disease, this should be particularly evident in youn…

cardiovascular risk factorsAdultMalePathologymedicine.medical_specialtyPhysiologyPopulationMyocardial InfarctionCoronary DiseaseSingle-nucleotide polymorphismDiseaseBiologyPolymorphism Single NucleotideConnexinsPhysiology (medical)Genetic predispositionmedicineHumansSNPGenetic Predisposition to DiseaseMyocardial infarctionAlleleeducationAged 80 and overInflammationeducation.field_of_studyHaplotypeHematologyMiddle AgedPyrinmedicine.diseaseInterleukin-10Platelet Endothelial Cell Adhesion Molecule-1Toll-Like Receptor 4Juvenile myocardial infarctiongenetic patternCytoskeletal ProteinsC-Reactive ProteinImmunologyFemaleCardiology and Cardiovascular MedicineClinical Hemorheology and Microcirculation
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The ATXN1 and TRIM31 genes are related to intelligence in an ADHD background: evidence from a large collaborative study totaling 4,963 subjects

2010

Contains fulltext : 96400.pdf (Publisher’s version ) (Closed access) Intelligence is a highly heritable trait for which it has proven difficult to identify the actual genes. In the past decade, five whole-genome linkage scans have suggested genomic regions important to human intelligence; however, so far none of the responsible genes or variants in those regions have been identified. Apart from these regions, a handful of candidate genes have been identified, although most of these are in need of replication. The recent growth in publicly available data sets that contain both whole genome association data and a wealth of phenotypic data, serves as an excellent resource for fine mapping and …

cognitionCandidate genegenetic associationUbiquitin-Protein LigasesEuropean Continental Ancestry GroupIntelligencePopulationMedizinNerve Tissue ProteinsSingle-nucleotide polymorphismGenomic disorders and inherited multi-system disorders Functional Neurogenomics [IGMD 3]Quantitative trait locusBiologyPolymorphism Single NucleotideGenomeWhite PeopleNuclear FamilyGenomic disorders and inherited multi-system disorders [IGMD 3]Tripartite Motif ProteinsCohort Studies03 medical and health sciencesCellular and Molecular Neuroscience0302 clinical medicineMeta-Analysis as TopicADHDHumansddc:610Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie Psychosomatik und Psychotherapie des Kindes- und JugendalterseducationAtaxin-1Genetics (clinical)030304 developmental biologyGenetic associationGeneticsMental Health [NCEBP 9]0303 health scienceseducation.field_of_studyIntelligence quotientHuman intelligenceNuclear ProteinsALSPACPsychiatry and Mental healthPhenotypeAtaxinsAttention Deficit Disorder with Hyperactivitycandidate genesFunctional Neurogenomics [DCN 2]030217 neurology & neurosurgeryResearch Article
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Meta-analysis of gene–environment-wide association scans accounting for education level identifies additional loci for refractive error

2016

Myopia is the most common human eye disorder and it results from complex genetic and environmental causes. The rapidly increasing prevalence of myopia poses a major public health challenge. Here, the CREAM consortium performs a joint meta-analysis to test singlenucleotide polymorphism (SNP) main effects and SNP education interaction effects on refractive error in 40,036 adults from 25 studies of European ancestry and 10,315 adults from 9 studies of Asian ancestry. In European ancestry individuals, we identify six novel loci (FAM150B-ACP1, LINC00340, FBN1, DIS3L-MAP2K1, ARID2-SNAT1 and SLC14A2) associated with refractive error. In Asian populations, three genome-wide significant loci AREG, G…

educationlocilikinäköisyyssingle-nucleotide polymorphism
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Effect of the IL28B Rs12979860 C/T polymorphism on the incidence and features of active cytomegalovirus infection in allogeneic stem cell transplant …

2013

The current study was aimed at investigating whether the single nucleotide polymorphism (SNP) (rs12979860), upstream of the IL28B gene, had any effect on the incidence rate and the features of active CMV infection in the Allogeneic stem cell transplantation setting. This was a retrospective observational study including 151 patients undergoing T cell-replete Allo-SCT. Donor and recipient IL28 SNP genotype was determined by allele-specific real-time PCR. The incidence rate of active CMV infection was not significantly associated with either the donor or the recipient IL28B SNP genotype. Nevertheless, a trend towards a lower incidence of active CMV infection was noted in the donor T/T populat…

education.field_of_studyIncidence (epidemiology)PopulationSingle-nucleotide polymorphismBiologyVirologyTransplantationInfectious DiseasesPolymorphism (computer science)VirologyImmunologyGenetic modelGenotypeAlleleeducationJournal of Medical Virology
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Nuclear receptor NR5A2 and bone: gene expression and association with bone mineral density

2011

El pdf del artículo es el manuscrito de autor (PMCID: PMC3682472).-- et al.

endocrine systemmedicine.medical_specialtyBone densityEndocrinology Diabetes and MetabolismReceptors Cytoplasmic and NuclearElectrophoretic Mobility Shift AssaySingle-nucleotide polymorphismIn Vitro TechniquesArticleBone and BonesCell LineBone remodelingEndocrinologyOsteoprotegerinBone DensityInternal medicineBone cellmedicineHumansPromoter Regions GeneticAgedAged 80 and overRegulation of gene expressionBone mineralOsteoblastsBonesbiologyGeneral MedicineMiddle AgedGene regulationPostmenopauseEndocrinologyOsteocalcinbiology.proteinFemaleGene expression
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Candidate gene study on nicotine dependence in Finnish sibpairs

2008

kaksosetsingle nucleotide polymorphismtupakointiriippuvuuscytochrome P450 genecandidate genenikotiininicotine dependencesisaruksetassociation analysis
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Association between genetic variations in the insulin/insulin-like growth factor (Igf-1) signaling pathway and longevity: a systematic review and met…

2013

Some studies have shown that polymorphisms in the insulin growth factor-1 (IGF-1) signaling pathway genes could influence human longevity. However, the results of different studies are often inconsistent. Our aim was to investigate by systematic review and meta-analysis the association of the common polymorphisms defining the genetic variability of the IGF-1 signaling pathway associated with human longevity. Eleven studies investigating the association between the polymorphisms in the IGF-1 signaling pathway genes (IGF-1, IGF-1 receptor (IGF-1R), Forkhead box O3A (FOXO3A) and Silent mating type Information Regulation 1 (SIRT1) and longevity were found and analyzed. The modelfree approach wa…

media_common.quotation_subjectLongevitySingle-nucleotide polymorphismBiologyBioinformaticsPolymorphism Single NucleotideIGF-1 Signaling PathwayPolymorphism (computer science)Meta-analysis IGF-1 LongevityGenotypeHumansInsulinGenetic variabilityAlleleInsulin-Like Growth Factor Imedia_commonSettore MED/04 - Patologia GeneralePharmacologyGeneticsAged 80 and overForkhead Box Protein O3Case-control studyLongevityGenetic VariationForkhead Transcription FactorsCase-Control StudiesCardiology and Cardiovascular MedicineSignal TransductionCurrent vascular pharmacology
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Association of a single nucleotide polymorphism of RANK gene with blood pressure in Spanish women

2020

Abstract In addition to governing key functions in bone metabolism and the immune system, the RANK/RANKL/OPG system plays a role in the vascular system, particularly in vascular calcification and atherosclerosis. Given that these 2 phenotypes are considered a major cause of high blood pressure (BP), in this study we analyzed the association of SNPs in RANK and OPG genes with blood pressure. An observational study was conducted of 2 SNPs in the RANK gene (rs884205 and rs78326403) and 1 in the OPG gene (rs4876869) with systolic (SBP) and diastolic blood pressure (DBP) in a cohort of 695 women. Data analysis revealed a statistically significant association between the SNP rs884205 and BP press…

medicine.medical_specialty3400Observational StudySingle-nucleotide polymorphismGenome-wide association studyassociation studyPolymorphism Single NucleotidepolymorphismRANK and osteoprotegerin genes03 medical and health sciencessymbols.namesake0302 clinical medicinePolymorphism (computer science)Internal medicineGenotypeHumansMedicineSNP030212 general & internal medicineAlleleReceptor Activator of Nuclear Factor-kappa Bbusiness.industryOsteoprotegerinblood pressureGeneral MedicineMiddle AgedEndocrinologyBonferroni correctionBlood pressureSpain030220 oncology & carcinogenesissymbolsFemalebusinessGenome-Wide Association StudyResearch ArticleMedicine
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Lack of Association Between Rs2067474 Polymorphism in the Histamine Receptor H2 Gene and Gastric Cancer In Latvian Population

2018

Abstract Histamine has an important role in the process of the gastric mucosa inflammation acting via histamine receptor H2 (encoded by the gene HRH2). Single nucleotide polymorphism of the enhancer element of HRH2 gene promoter rs2067474 (1018G>A)may be associated with changes of expression of the receptor. We attempted to clarify the association of this polymorphism with gastric cancer and/or atrophic gastritis in the Latvian (Caucasian) population. The study group consisted of 121 gastric cancer patients and 650 patients with no evidence of gastric neoplasia on upper gastrointestinal endoscopy. Genotyping for rs2067474 was performed with the TaqMan probe-based system using a commercia…

medicine.medical_specialtyAtrophic gastritisSciencePopulationSingle-nucleotide polymorphismhistamine h2 receptorGastroenterologychemistry.chemical_compoundHistamine receptorInternal medicineGenotypeGastric mucosagenetic polymorphismMedicineeducationGenotypingeducation.field_of_studyMultidisciplinarybusiness.industrygastric cancerQmedicine.diseasemedicine.anatomical_structurechemistrychronic gastritisbusinessHistamineProceedings of the Latvian Academy of Sciences. Section B. Natural, Exact, and Applied Sciences.
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