Search results for " genotype"

showing 5 items of 205 documents

Is HLA type a possible cancer risk modifier in Lynch syndrome?

2022

Lynch syndrome (LS) is the most common inherited cancer syndrome. It is inherited via a monoallelic germline variant in one of the DNA mismatch repair (MMR) genes. LS carriers have a broad 30-80% risk of developing various malignancies, and more precise, individual risk estimations would be of high clinical value, allowing tailored cancer prevention and surveillance. Due to MMR deficiency, LS cancers are characterized by the accumulation of frameshift mutations leading to highly immunogenic frameshift peptides (FSPs). Thus, immune surveillance is proposed to inhibit the outgrowth of MMR-deficient cell clones. Recent studies have shown that immunoediting during the evolution of MMR-deficient…

personalized cancer riskCancer ResearchLynch syndromeHLA genotypeOncologycancer immunoeditingimmune surveillanceimmuunivastesyöpätauditLynchin oireyhtymäInternational Journal of Cancer
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Effects of arbuscular mycorrhizal symbiosis on the nitrogen uptake of three durum wheat genotypes from two different organic sources

2012

plant genotypearbuscular mycorrhizal symbiosi15N-Nitrogen recoveryorganic matterSettore AGR/02 - Agronomia E Coltivazioni Erbacee
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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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Nonlinearities in plant RNA virus fitness

2012

Una de las mayores amenazas tanto para la salud humana y animal, como para la agronomía es la emergencia de nuevas enfermedades infecciosas, la mayoría de las cuales están causadas por los virus de RNA. La emergencia viral es un problema complejo que consista en la adquisición de la variación genética, por mutación o recombinación, dentro de la población viral en el huésped reservorio la cual podría facilitar la capacidad de infectar de manera eficiente nuevos huéspedes. Los virus de RNA presentan a una evolucionabilidad extraordinaria por sus grandes tamaños poblacionales, cortos tiempos de generación y altas tasas de mutación y recombinación. Comprender los mecanismos evolutivos que podrí…

virus evolutionepistasisgenome architecturegenotype-by-environmentUNESCO::CIENCIAS DE LA VIDA::Otras especialidades de la biologíafitness landscapesEmerging viruses; RNA viruses; Tobacco etch virus; Viral fitness; Generalism vs. specialism; Genotype-by-environment (G×E) interactions; Epistasis; Adaptive fitness landscapesdeleterious mutations:CIENCIAS DE LA VIDA::Virología [UNESCO]UNESCO::CIENCIAS DE LA VIDA::Genética ::Genética de poblacionesemerging viruses:CIENCIAS DE LA VIDA::Genética ::Genética de poblaciones [UNESCO]UNESCO::CIENCIAS DE LA VIDA::Virología:CIENCIAS DE LA VIDA::Otras especialidades de la biología [UNESCO]
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