Search results for " polymorphism"

showing 10 items of 1028 documents

Seven Shades of Grey: A Follow-Up Study on the Molecular Basis of Coat Colour in Indicine Grey Cattle Using Genome-Wide SNP Data

2022

Shades of grey and brown are a dominant component in mammal coat colours, representing a fundamental trait involved in a great number of processes including cryptism, sexual selection and signalling. The genetic mechanisms of the grey colouration in mammals are very complex and controlled by hundreds of genes whose effects and interactions are still largely unclear. In this study, we adopted a robust multi-cohort Fst outlier approach based on pairwise contrasts between seven grey indicine cattle breeds and both taurine and indicine non-grey cattle breeds in order to find genomic regions potentially related to the grey colouration. On the basis of three main drawn settings, built in order to…

Taurinecoat colour; cattle; <i>Bos taurus indicus</i>; selection signatures; F<sub>st</sub>selection signatureColorPolymorphism Single NucleotideSettore AGR/17 - Zootecnica Generale E Miglioramento GeneticoGeneticsSingle Nucleotide PolymorphismAnimalsCattleBos taurus indicuFstAnimal FurGenetics (clinical)Phylogenycoat colourFollow-Up Studies
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Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

2013

Journal article TERT-locus SNPs and leukocyte telomere measures are reportedly associated with risks of multiple cancers. Using the Illumina custom genotyping array iCOGs, we analyzed ~480 SNPs at the TERT locus in breast (n = 103,991), ovarian (n = 39,774) and BRCA1 mutation carrier (n = 11,705) cancer cases and controls. Leukocyte telomere measurements were also available for 53,724 participants. Most associations cluster into three independent peaks. The minor allele at the peak 1 SNP rs2736108 associates with longer telomeres (P = 5.8 × 10!-7), lower risks for estrogen receptor (ER)-negative (P = 1.0 × 10!-8) and BRCA1 mutation carrier (P = 1.1 × 10!-5) breast cancers and altered promot…

TelomeraseMessengerCàncer d'ovariEstrogen receptorAetiology screening and detection [ONCOL 5]0302 clinical medicineBreast cancerRisk FactorsAlternative Splicing; Biomarkers Tumor; Breast Neoplasms; Case-Control Studies; Chromatin; DNA Methylation; Female; Gene Expression Profiling; Genetic Loci; Genetic Predisposition to Disease; Genome-Wide Association Study; Genotype; Humans; Luciferases; Oligonucleotide Array Sequence Analysis; Ovarian Neoplasms; Polymorphism Single Nucleotide; RNA Messenger; Real-Time Polymerase Chain Reaction; Reverse Transcriptase Polymerase Chain Reaction; Risk Factors; Telomerase; Telomere; GeneticsGenotypeBUCCAL CELLSLuciferasesTelomeraseOligonucleotide Array Sequence AnalysisOvarian Neoplasms0303 health sciencesTumorTelòmerReverse Transcriptase Polymerase Chain ReactionGENETIC-VARIATIONCOMMON VARIANTSSingle Nucleotidetert-clptm1l locus; genome-wide association; genetic-variation; susceptibility loci; buccal cells; fibroblasts; common variants; carcinoma; reverse-transcriptase htert; metaanalysisTelomereAetiology screening and detection Immune Regulation [ONCOL 5]Chromatin3. Good healthTumor Markers Biological030220 oncology & carcinogenesisFemaleFIBROBLASTSGenotypeSUSCEPTIBILITY LOCICARCINOMASingle-nucleotide polymorphismBreast NeoplasmsBiologyReal-Time Polymerase Chain ReactionPolymorphism Single NucleotideArticleCàncer de mama03 medical and health sciencesBreast cancerSDG 3 - Good Health and Well-beingTranslational research [ONCOL 3]Ovarian cancermedicineGeneticsBiomarkers TumorHumansGenetic Predisposition to DiseaseRNA MessengerPolymorphismAlleleGENOME-WIDE ASSOCIATIONMETAANALYSIS030304 developmental biologyMolecular epidemiology Aetiology screening and detection [NCEBP 1]Breast cancer susceptibilityHereditary cancer and cancer-related syndromes [ONCOL 1]Translational research Genomic disorders and inherited multi-system disorders [ONCOL 3]Gene Expression ProfilingDNA Methylationmedicine.diseaseMolecular biologyTERT-CLPTM1L LOCUSTelomereMinor allele frequencyAlternative SplicingGenetic LociCase-Control StudiesRNABiomarkersREVERSE-TRANSCRIPTASE HTERTGenome-Wide Association StudyNature genetics
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The relationship between genetic risk variants with brain structure and function in bipolar disorder: A systematic review of genetic-neuroimaging stu…

2017

Genetic-neuroimaging paradigms could provide insights regarding the pathophysiology of bipolar disorder (BD). Nevertheless, findings have been inconsistent across studies. A systematic review of gene-imaging studies involving individuals with BD was conducted across electronic major databases from inception until January 9th, 2017. Forty-four studies met eligibility criteria (N = 2122 BD participants). Twenty-six gene variants were investigated across candidate gene studies and 4 studies used a genome-wide association approach. Replicated evidence (i.e. in &gt;2 studies) suggests that individuals with BD carrying the BDNF Val66Met risk allele could have reduced hippocampal volumes compared …

Transtorno BipolarCandidate genediffusion tensor imagingvoxel based morphometryBipolar disorderBipolar disorder Genetic polymorphisms Neuroimaging Magnetic resonance imaging Functional MRI Diffusion tensor imagingvoxel based morphometryCognitive NeuroscienceBrain Structure and FunctionGenome-wide association studyNeuroimagingComputational biologyGenetic polymorphismsFaculty of Social Sciences03 medical and health sciencesDISC1Behavioral Neuroscience0302 clinical medicineMagnetic resonance imagingNeuroimaginggenetic polymorphisms/dk/atira/pure/core/keywords/FacultyOfSocialSciencesImatges per ressonància magnèticamedicineHumansManic-depressive illnessANK3Bipolar disorderCervellNeuroimagemDiffusion tensor imagingvoxel based morphometryFunctional MRIGenetic polymorphismneuroimagingTrastorn bipolarbiologyBipolar disorder; Diffusion tensor imagingvoxel based morphometry; Functional MRI; Genetic polymorphisms; Magnetic resonance imaging; Neuroimaging; Neuropsychology and Physiological Psychology; Cognitive Neuroscience; Behavioral NeuroscienceReproducibility of ResultsBrainmedicine.disease030227 psychiatryNeuropsychology and Physiological Psychology5-HTTLPRbiology.proteinfunctional MRIImagem por Ressonância MagnéticaPsychologyNeuroscience030217 neurology & neurosurgeryHumanGenome-Wide Association Study
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Analysis of p53 and mdm2 proteins in malignant fibrous histiocytoma in absence of gene alteration: prognostic significance.

2000

TP53 and MDM2 genes and their protein expression were evaluated in frozen and paraffin-embedded tissue from 27 patients with malignant fibrous histiocytoma to elucidate the relationship between them, their implication in tumor progression mechanisms and their possible diagnostic-prognostic value in malignant fibrous histiocytoma. Single-strand conformation polymorphism analysis and direct sequencing of polymerase chain reaction-amplified DNA were used to establish two TP53 mutations (7.4%): a point mutation and a 63-bp duplication. Amplification of the MDM2 gene was observed in two tumors (7.4%) by means of Southern-blot analysis, one of them also carrying the TP53 point mutation. Immunohis…

Tumor suppressor geneBlotting WesternSoft Tissue NeoplasmsBiologyPolymerase Chain ReactionPathology and Forensic MedicineImmunoenzyme TechniquesMiceProto-Oncogene ProteinsGene duplicationGene expressionAnimalsHumansneoplasmsMolecular BiologyGeneTP53 Gene MutationPolymorphism Single-Stranded ConformationalCell NucleusMice Inbred BALB CHistiocytoma Benign FibrousPoint mutationNuclear ProteinsSingle-strand conformation polymorphismProto-Oncogene Proteins c-mdm2Cell BiologyGeneral MedicineDNA NeoplasmMolecular biologyNeoplasm ProteinsSurvival RateBlotting SouthernTumor progressionMutationCancer researchNeoplasm Recurrence LocalTumor Suppressor Protein p53Virchows Archiv : an international journal of pathology
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Analysis of the p53 and MDM-2 gene in acute myeloid leukemia

1996

The MDM-2 (murine double minute 2) gene codes for a cellular protein that can bind to the p53 tumor suppressor gene product, thereby functioning as a negative regulator of p53. In order to define the role of the MDM-2 gene in the pathogenesis of human acute myeloid leukemia, the expression and the sequence of the MDM-2 gene were examined in samples of bone marrow and/or peripheral mononuclear cells of 38 patients by using immunostaining, polymerase chain reaction (PCR), single strand conformation polymorphism, and sequencing. Immunohistochemical staining detected a weak accumulation of the MDM-2 protein in AML patients of FAB classification M4 and M5. RT-PCR analysis revealed a heterogeneou…

Tumor suppressor geneGene ExpressionBiologyPolymerase Chain ReactionExonBone MarrowProto-Oncogene ProteinsGene expressionmedicineHumansMissense mutationRNA MessengerGenePolymorphism Single-Stranded ConformationalBase SequenceNuclear ProteinsMyeloid leukemiaProto-Oncogene Proteins c-mdm2Single-strand conformation polymorphismExonsSequence Analysis DNAHematologyGeneral MedicineGenes p53medicine.diseaseImmunohistochemistryMolecular biologyLeukemiaLeukemia MyeloidAcute DiseaseLeukocytes MononuclearCancer researchEuropean Journal of Haematology
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PSMA6 (rs2277460, rs1048990), PSMC6 (rs2295826, rs2295827) and PSMA3 (rs2348071) genetic diversity in Latvians, Lithuanians and Taiwanese

2014

PSMA6 (rs2277460, rs1048990), PSMC6 (rs2295826, rs2295827) and PSMA3 (rs2348071) genetic diversity was investigated in 1438 unrelated subjects from Latvia, Lithuania and Taiwan. In general, polymorphism of each individual locus showed tendencies similar to determined previously in HapMap populations. Main differences concern Taiwanese and include presence of rs2277460 rare allele A not found before in Asians and absence of rs2295827 rare alleles homozygotes TT observed in all other human populations. Observed patterns of SNPs and haplotype diversity were compatible with expectation of neutral model of evolution. Linkage disequilibrium between the rs2295826 and rs2295827 was detected to be c…

UPS ubiquitin–proteasome systemLinkage disequilibriumTF transcription factorLD linkage disequilibriumPopulationSNPLocus (genetics)Single-nucleotide polymorphismBiologyArticleHapMap JPT JapaneseGenetic diversityHuman populationTW Taiwanese populationLT Lithuanian populationGeneticsInternational HapMap ProjectAlleleeducationHapMap-CEU NorthWestern EuropeansGenetics (clinical)Geneticseducation.field_of_studyGenetic diversityProteasomeHapMap HCB Han ChineseHWE Hardy–Weinberg equilibriumHaplotypePSMC6LV Latvian populationT2DM type 2 diabetes mellitusPSMA6SNP single nucleotide polymorphismTFBS transcription factor binding sitePSMA3Meta Gene
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IL28B and PNPLA3 Polymorphisms Affect Histological Liver Damage in Patients with Non-alcoholic Fatty Liver Disease.

2012

Background & Aims: Genetic background may affect liver damage in patients with non-alcoholic fatty liver disease (NAFLD). The main outcomes of the study were to assess whether IL28B rs12979860 and rs8099917 polymorphisms, together with PNPLA3 rs738409 C>G polymorphism, are associated with lobular inflammation and fibrosis, in NAFLD patients. Methods: One hundred sixty consecutive NAFLD patients were assessed by liver biopsy (Kleiner score); anthropometric, and biochemical and metabolic features were included. IL28B rs12979860 C>T, IL28B rs8099917 G>C, and PNPLA3 rs738409 C>G single nucleotide polymorphisms were tested. Results: Seventy-four (46.2%) patients had IL28B rs12979860 CC polymorph…

Univariate analysismedicine.medical_specialtyPathologySettore MED/12 - GastroenterologiaHepatologymedicine.diagnostic_testFatty liverliver fibrosiSingle-nucleotide polymorphismBiologySettore MED/08 - Anatomia Patologicamedicine.diseaseGastroenterologynonalcoholic fatty liver IL28B PNPLA3 PolymorphismsInterleukin 28BFibrosisInternal medicineLiver biopsyGenotypemedicinenafld liver biopsyHyperuricemia
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Polymorphisms of β-defensin genes in Valle del Belice dairy sheep

2011

The aim of this work was to study β-defensin 1 (SBD1) and β-defensin 2 (SBD2) genes in Valle del Belice dairy sheep in order to identify polymorphisms that can be utilized as markers of the analyzed genes, and search for the functional effects and roles of the identified polymorphisms (variation of the amino acid sequence of the protein and stability of mRNA molecule). The study was conducted on 300 randomly selected animals belonging to four flocks. A total of seven SNPs were identified, two in SBD1 and five in SBD2. The two SNPs identified in SBD2 coding region, at position 1659 and position 1667, were non-synonymous, leading to amino acid changes in the protein product. Nevertheless, the…

Untranslated regionbeta-DefensinsGenotypeMolecular Sequence DataSingle-nucleotide polymorphismBiologyPolymorphism Single NucleotideSettore AGR/17 - Zootecnica Generale E Miglioramento GeneticoGene Frequencyb-Defensin SNPs Sheep Valle del BeliceGeneticsAnimalsCoding regionRNA MessengerMolecular BiologyDefensinGenePeptide sequenceSheep Domesticchemistry.chemical_classificationGeneticsBase SequenceComputational BiologyGeneral MedicineMolecular biologyAmino acidDairyingchemistryGenetic markerNucleic Acid ConformationMolecular Biology Reports
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STUDY OF FATTY ACIDS PROFILE IN OVINE AND CAPRINE SICILIAN DAIRY BREED AND ASSOCIATION WITH POSSIBLE CANDIDATE GENES

In Sicilia, le razze bovine, ovine e caprine e le produzioni lattiero-casearie rappresentano una risorsa importante per l’economia del settore zootecnico. L’importanza economica del latte ovino e caprino è soprattutto legata per il primo alla sua trasformazione in prodotti lattiero-caseari, per il secondo al possibile utilisso per il consumo fresco. Per entrambe queste specie, il contenuto di grasso e proteine è importante tanto quanto la produzione di latte. L’individuazione dei geni responsabili delle caratteristiche quanti-qualitative del latte dei piccoli ruminanti permetterebbe quindi di aumentare l’efficienza del miglioramento genetico e di considerare nuovi obiettivi di selezione com…

Valle del Belice breedSingle nucleotide polymorphisms.Settore AGR/17 - Zootecnica Generale E Miglioramento GeneticoGenetic polymorphismfatty acid compositionGirgentana goat milkGC-MSGC-FIDcaseinsheep milkAcetyl-CoA carboxylase gene
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Genetic polymorphism at the CSN1S1 gene in Girgentana dairy goat breed

2013

The aim of this work was to evaluate the variability of the αs1-casein locus in the endangered Girgentana dairy goat breed in order to define genetic improvement and a conservation program for this breed. The study was performed on 200 dairy goats by means of different PCR protocols. The most frequent alleles were A (0.590) and F (0.290) followed by B (0.065) and N (0.047). CSN1S1 E allele was identified with a very low frequency (0.008). The most common genotype was AF (0.365) followed by AA (0.340). The high frequency of the strong genotypes is associated with the production of milk with high fat and protein content and with optimal technological properties. In Girgentana goat breed, the …

Veterinary medicineCSN1S1 genebusiness.industryDrought toleranceLocus (genetics)BiologyBreedBiotechnologySettore AGR/17 - Zootecnica Generale E Miglioramento GeneticoCSN1S1 genetic polymorphisms Girgentana goat milk productionGenotypeEnvironmental management systemHigh fatAnimal Science and ZoologyAllelebusinessFood Science
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