Search results for " P.H.S."

showing 3 items of 3 documents

Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk.

2014

Previous studies have suggested that polymorphisms in CASP8 on chromosome 2 are associated with breast cancer risk. To clarify the role of CASP8 in breast cancer susceptibility, we carried out dense genotyping of this region in the Breast Cancer Association Consortium (BCAC). Single-nucleotide polymorphisms (SNPs) spanning a 1 Mb region around CASP8 were genotyped in 46 450 breast cancer cases and 42 600 controls of European origin from 41 studies participating in the BCAC as part of a custom genotyping array experiment (iCOGS). Missing genotypes and SNPs were imputed and, after quality exclusions, 501 typed and 1232 imputed SNPs were included in logistic regressionmodels adjusting for stud…

Genotyping TechniquesResearch Support U.S. Gov't P.H.S.CASP8 and FADD-Like Apoptosis Regulating ProteinGenome-wide association studyP.H.S.Medical and Health SciencesBreast and Ovarian Cancer Susceptibility (BOCS) StudyMedizinische FakultätGenetics(clinical)Non-U.S. Gov'tGenetics (clinical)GeneticsGenetics & HeredityvariantsCaspase 8Research Support Non-U.S. Gov'tAssociation Studies ArticlesGeneral MedicineBiological Sciencesddc:Chromosomes Human Pair 2kConFab InvestigatorsFemaleGENICA NetworkAustralian Ovarian Cancer Study GroupEuropean Continental Ancestry GroupNon-P.H.S.Single-nucleotide polymorphismBreast Neoplasms-BiologyResearch SupportPolymorphism Single NucleotideWhite PeopleN.I.H.Breast cancerResearch Support N.I.H. ExtramuralSDG 3 - Good Health and Well-beingmedicineGeneticsJournal ArticleHumansGenetic Predisposition to Diseaseddc:610geneGenotyping TechniquesGenotypingMolecular BiologyGenetic associationdiseaseExtramuralProteinsOdds ratiomedicine.diseasesusceptibility lociMinor allele frequencyCase-Control Studiesgenome-wide associationenhancersU.S. Gov'tcasp8Research Support U.S. Gov't Non-P.H.S.Genome-Wide Association Study
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Analisi di delezioni esoniche del gene PAH in pazienti affetti da iperfenilalaninemia

2009

MLPA PAHSettore BIO/13 - Biologia Applicata
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A genome-wide association study of marginal zone lymphoma shows association to the HLA region

2015

Marginal zone lymphoma (MZL) is the third most common subtype of B-cell non-Hodgkin lymphoma. Here we perform a two-stage GWAS of 1,281 MZL cases and 7,127 controls of European ancestry and identify two independent loci near BTNL2 (rs9461741, P=3.95 × 10−15) and HLA-B (rs2922994, P=2.43 × 10−9) in the HLA region significantly associated with MZL risk. This is the first evidence that genetic variation in the major histocompatibility complex influences MZL susceptibility.

Medicin och hälsovetenskapLymphomaResearch Support U.S. Gov't P.H.S.Follicular lymphomaGeneral Physics and AstronomyGenome-wide association studyMarginal ZoneP.H.S.Medical and Health SciencesMajor Histocompatibility ComplexPolymorphism (computer science)Non-U.S. Gov'tGENE-EXPRESSIONCELL DEVELOPMENTGeneticsMultidisciplinaryMembrane GlycoproteinsResearch Support Non-U.S. Gov'tSingle NucleotideMarginal zone3. Good healthMultidisciplinary SciencesScience & Technology - Other TopicsNON-HODGKIN-LYMPHOMASUSCEPTIBILITY LOCIGenotypeCèl·lules BEuropean Continental Ancestry GroupEPIDEMIOLOGIC RESEARCHHuman leukocyte antigenBiologyResearch SupportPolymorphism Single NucleotideCLASSIFICATIONGeneral Biochemistry Genetics and Molecular BiologyWhite PeopleArticleN.I.H.Research Support N.I.H. ExtramuralMarginal zone lymphomaMD MultidisciplinaryGenetic variationmedicineJournal ArticleHumansPolymorphismGASTRIC LYMPHOMAIntramuralB cellsScience & TechnologyButyrophilinsGastric lymphomaB-CellExtramuralComputational BiologyGeneral ChemistryLymphoma B-Cell Marginal ZoneResearch Support N.I.H. Intramuralmedicine.diseaseRISK LOCIRHEUMATOID-ARTHRITISLymphomaMalaltia de HodgkinImmunologyU.S. Gov'tHodgkin's diseaseFOLLICULAR LYMPHOMAGenome-Wide Association Study
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