0000000000713587

AUTHOR

Federico Canzian

showing 9 related works from this author

Genome-wide Association Analysis in Humans Links Nucleotide Metabolism to Leukocyte Telomere Length

2020

Leukocyte telomere length (LTL) is a heritable biomarker of genomic aging. In this study, we perform a genome-wide meta-analysis of LTL by pooling densely genotyped and imputed association results across large-scale European-descent studies including up to 78,592 individuals. We identify 49 genomic regions at a false dicovery rate (FDR) < 0.05 threshold and prioritize genes at 31, with five highlighting nucleotide metabolism as an important regulator of LTL. We report six genome-wide significant loci in or near SENP7, MOB1B, CARMIL1, PRRC2A, TERF2, and RFWD3, and our results support recently identified PARP1, POT1, ATM, and MPHOSPH6 loci. Phenome-wide analyses in >350,000 UK Biobank p…

Netherlands Twin Register (NTR)LimfomesLOCIGenome-wide association studyDiseaseVARIANTSDISEASE0302 clinical medicineLeukocytestelomere lengthGWASGenetics(clinical)CàncerMendelian randomisationThyroid cancerGenetics (clinical)11 Medical and Health SciencesCancerGeneticsGenetics & HeredityRISK0303 health sciencesTelòmerage-related disease; biological aging; Mendelian randomisation; telomere length; Humans; Leukocytes; Nucleotides; Genome-Wide Association Study; TelomereNucleotidesmeta-analyysigenomiikkaGenomicsTelomereCANCER3. Good health030220 oncology & carcinogenesisbiological agingMENDELIAN RANDOMIZATION/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingMedical geneticsBiomarker (medicine)HEARTLymphomasLife Sciences & BiomedicineMedical Geneticsmedicine.medical_specialtyGENESDATABASEAge-related Disease ; Biological Aging ; Mendelian Randomisation ; Telomere LengthBiologyArticle03 medical and health sciencesSDG 3 - Good Health and Well-beingMendelian randomization/dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_medicineGeneticsJournal ArticleHumans030304 developmental biologyMedicinsk genetikage-related diseaseScience & TechnologyCancer06 Biological Sciencesmedicine.diseaseTelomereGenòmicaikääntyminen1182 Biochemistry cell and molecular biologytelomeeritbiologicalGenome-Wide Association Study
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Genome-wide homozygosity and risk of four non-Hodgkin lymphoma subtypes

2021

Aim: Recessive genetic variation is thought to play a role in non-Hodgkin lymphoma (NHL) etiology. Runs of homozygosity (ROH), defined based on long, continuous segments of homozygous SNPs, can be used to estimate both measured and unmeasured recessive genetic variation. We sought to examine genome-wide homozygosity and NHL risk.Methods: We used data from eight genome-wide association studies of four common NHL subtypes: 3061 chronic lymphocytic leukemia (CLL), 3814 diffuse large B-cell lymphoma (DLBCL), 2784 follicular lymphoma (FL), and 808 marginal zone lymphoma (MZL) cases, as well as 9374 controls. We examined the effect of homozygous variation on risk by: (1) estimating the fraction o…

GeneticsChronic lymphocytic leukemiadiffuse large B-cell lymphomaFollicular lymphomaSingle-nucleotide polymorphismRuns of HomozygosityBiologymedicine.diseasemarginal zone lymphomaArticlefollicular lymphomaimmune system diseaseshemic and lymphatic diseasesGenetic variationmedicinechronic lymphocytic leukemiahomozygosityDiffuse large B-cell lymphomaInbreedingNon-Hodgkin lymphomaGenetic associationJournal of Translational Genetics and Genomics
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Generation of a DNA microarray for determination of E6 natural variants of human papillomavirus type 16.

2003

Infection with high-risk types of human papillomavirus (HPV) is necessary for the development of cervical cancer. However, the majority of the HPV infections are efficiently cleared by the immune system and only a minority persist and induce the development of malignant lesions. Several studies provided evidence that intratype genetic variations are implicated in determining the clinical outcome of HPV infections. In this study, we describe a DNA chip based on arrayed primer extension (APEX) for the analysis of the natural variants of HPV16, the most frequently detected type in cervical cancer world-wide. We show that HPV16 E6 variants are detected efficiently by APEX. In addition, APEX is …

Cervical cancerGeneticsMicroarrayvirus diseasesGenetic VariationOncogene Proteins ViralBiologymedicine.diseaseGenomefemale genital diseases and pregnancy complicationsDNA sequencingPrimer extensionVirusRepressor ProteinsVirologyGenetic variationDNA ViralmedicineHumansFemaleDNA microarrayOligonucleotide Array Sequence AnalysisJournal of virological methods
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A comprehensive study of polymorphisms in the ABCB1, ABCC2, ABCG2, NR1I2 genes and lymphoma risk.

2011

Owing to their role in controlling the efflux of toxic compounds, transporters are central players in the process of detoxification and elimination of xenobiotics, which in turn is related to cancer risk. Among these transporters, ATP-binding cassette B1/multidrug resistance 1 (ABCB1/MDR1), ABCC2/multidrug resistance protein 2 (MRP2) and ABCG2/breast cancer resistance protein (BCRP) affect susceptibility to many hematopoietic malignancies. The maintenance of regulated expression of these transporters is governed through the activation of intracellular "xenosensors" like the nuclear receptor 1I2/pregnane X receptor (NR1I2/PXR). SNPs in genes encoding these regulators have also been implicate…

Cytoplasmic And Nuclear ReceptorTechnologyCancer ResearchReceptors SteroidAbcg2Chronic lymphocytic leukemiaGeneBCL9Risk FactorsXenobioticATP Binding Cassette Transporter Subfamily G Member 2Poisonmultidrug resistance protein 2AlleleGeneticseducation.field_of_studyPregnane X receptorB-Cell Chronic Lymphocytic LeukemiabiologyMultidrug resistance-associated protein 2pregnane x receptorMultiple Drug ResistanceMultidrug Resistance-Associated Protein 2Neoplasm Proteinsmultidrug resistance 1Oncologybreast cancer resistance proteinMultidrug Resistance-Associated ProteinsCase-Control StudieBreast NeoplasmMultidrug Resistance-Associated ProteinsB-Cell LymphomaATP Binding Cassette Transporter Subfamily BATP-Binding Cassette TransporterMaintenancePopulationPopulationSingle-nucleotide polymorphismlymphomaPolymorphism Single NucleotideArticlemedicineHumansGenetic Predisposition to DiseaseATP Binding Cassette Transporter Subfamily B Member 1educationRegulator GeneHematologic NeoplasmProteinsmedicine.diseaseHaplotypeslymphoma; multidrug resistance 1; multidrug resistance protein 2; breast cancer resistance protein; pregnane x receptorSingle Nucleotide Polymorphismbiology.proteinNeoplasmATP-Binding Cassette Transporters
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Genetically Determined Height and Risk of Non-hodgkin Lymphoma

2020

Although the evidence is not consistent, epidemiologic studies have suggested that taller adult height may be associated with an increased risk of some non-Hodgkin lymphoma (NHL) subtypes. Height is largely determined by genetic factors, but how these genetic factors may contribute to NHL risk is unknown. We investigated the relationship between genetic determinants of height and NHL risk using data from eight genome-wide association studies (GWAS) comprising 10,629 NHL cases, including 3,857 diffuse large B-cell lymphoma (DLBCL), 2,847 follicular lymphoma (FL), 3,100 chronic lymphocytic leukemia (CLL), and 825 marginal zone lymphoma (MZL) cases, and 9,505 controls of European ancestry. We …

0301 basic medicineOncologyCancer Researchmedicine.medical_specialtyChronic lymphocytic leukemiaFollicular lymphomadiffuse large B-cell lymphomaSingle-nucleotide polymorphismGenome-wide association studylcsh:RC254-28203 medical and health sciences0302 clinical medicinefollicular lymphomaimmune system diseasesInternal medicinehemic and lymphatic diseasesGeneticsMedicineLeucèmia limfocítica crònicageneticsOriginal ResearchGenetic associationCancer och onkologibusiness.industrynon-Hodgkin lymphomaOdds ratiomedicine.diseaselcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogensmarginal zone lymphomaLymphomaMalaltia de Hodgkin030104 developmental biologyOncologyCancer and Oncology030220 oncology & carcinogenesispolygenic risk scorediffuse large B-celllymphomachronic lymphocytic leukemiaChronic lymphocytic leukemiaHodgkin's diseasegeneticbusinessDiffuse large B-cell lymphomaGenèticaheightFrontiers in Oncology
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Polymorphisms within the TNFSF4 and mapkapk2 loci influence the risk of developing invasive aspergillosis: A two-stage case control study in the cont…

2020

Here, we assessed whether 36 single nucleotide polymorphisms (SNPs) within the TNFSF4 and MAPKAPK2 loci influence the risk of developing invasive aspergillosis (IA). We conducted a twostage case control study including 911 high-risk patients diagnosed with hematological malignancies that were ascertained through the aspBIOmics consortium. The meta-analysis of the discovery and replication populations revealed that carriers of the TNFSF4rs7526628T/T genotype had a significantly increased risk of developing IA (p = 0.00022). We also found that carriers of the TNFSF4rs7526628T allele showed decreased serum levels of TNFSF14 protein (p = 0.0027), and that their macrophages had a decreased fungi…

Microbiology (medical)Thymic stromal lymphopoietinCiências Médicas::Ciências da Saúde:Ciências da Saúde [Ciências Médicas]lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4]Context (language use)Single-nucleotide polymorphismPlant ScienceCD38BiologyMonocytes03 medical and health sciencesAll institutes and research themes of the Radboud University Medical Center0302 clinical medicineGenotypeB cells; MAPKAPK2; TNFSF14; TNFSF4; TSLP; genetic susceptibility; invasive aspergillosis; monocytes; serum biomarkersB cells; Genetic susceptibility; Invasive aspergillosis; MAPKAPK2; Monocytes; Serum biomarkers; TNFSF14; TNFSF4; TSLPGenetic predispositionGenetic susceptibilityddc:610Allelelcsh:QH301-705.5Ecology Evolution Behavior and Systematics030304 developmental biology0303 health sciencesB cellsTNFSF14Science & TechnologyTNFSF4Case-control studyMAPKAPK2Serum biomarkers<i>TNFSF4</i>3. Good healthSettore MED/15 - MALATTIE DEL SANGUE<i>MAPKAPK2</i>lcsh:Biology (General)TSLPImmunologyInvasive aspergillosis030215 immunology
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Analysis of Heritability and Shared Heritability Based on Genome-Wide Association Studies for Thirteen Cancer Types

2015

BACKGROUND: Studies of related individuals have consistently demonstrated notable familial aggregation of cancer. We aim to estimate the heritability and genetic correlation attributable to the additive effects of common single-nucleotide polymorphisms (SNPs) for cancer at 13 anatomical sites.METHODS: Between 2007 and 2014, the US National Cancer Institute has generated data from genome-wide association studies (GWAS) for 49 492 cancer case patients and 34 131 control patients. We apply novel mixed model methodology (GCTA) to this GWAS data to estimate the heritability of individual cancers, as well as the proportion of heritability attributable to cigarette smoking in smoking-related cance…

MaleCancer ResearchLung NeoplasmsLymphomaGenome-wide association studyPolymorphism (computer science)NeoplasmsMedicineChronicGeneticsOsteosarcomaOncology And CarcinogenesisLeukemiaSmokingFamily aggregationSingle NucleotideMiddle AgedFamilial riskDiffuseKidney NeoplasmsLymphocyticOncologyAdult; Aged; Asian Continental Ancestry Group; Bone Neoplasms; European Continental Ancestry Group; Female; Humans; Kidney Neoplasms; Leukemia Lymphocytic Chronic B-Cell; Lung Neoplasms; Lymphoma Large B-Cell Diffuse; Male; Middle Aged; Neoplasms; Osteosarcoma; Polymorphism Single Nucleotide; Smoking; Testicular Neoplasms; Tissue Array Analysis; Urinary Bladder Neoplasms; Genetic Predisposition to Disease; Genome-Wide Association StudyFemaleLymphoma Large B-Cell DiffuseAdultAsian Continental Ancestry GroupEuropean Continental Ancestry Group/Bone NeoplasmsPolymorphism Single NucleotideGenetic correlationTesticular NeoplasmsLarge B-CellHumansGenetic Predisposition to DiseaseOncology & CarcinogenesisPolymorphismAgedbusiness.industryExtramuralB-CellCancerHeritabilityGenome-wide association studies for thirteen cancer typesmedicine.diseaseLeukemia Lymphocytic Chronic B-CellUrinary Bladder NeoplasmsTissue Array AnalysisbusinessGenome-Wide Association StudyJournal of the National Cancer Institute
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Genome-wide association studies identify four ER negative-specific breast cancer risk loci

2013

Estrogen receptor (ER)-negative tumors represent 20-30% of all breast cancers, with a higher proportion occurring in younger women and women of African ancestry. The etiology and clinical behavior of ER-negative tumors are different from those of tumors expressing ER (ER positive), including differences in genetic predisposition. To identify susceptibility loci specific to ER-negative disease, we combined in a metaanalysis 3 genome-wide association studies of 4,193 ER-negative breast cancer cases and 35,194 controls with a series of 40 follow-up studies (6,514 cases and 41,455 controls), genotyped using a custom Illumina array, iCOGS, developed by the Collaborative Oncological Gene-environm…

Oncologygenetic associationbody-mass indexEstrogen receptorGenome-wide association studycancer riskBioinformaticssusceptibilitychromosome 1q0302 clinical medicineRisk Factorssingle nucleotide polymorphismGenotypeestrogenCooperative Behaviorcomparative studyOligonucleotide Array Sequence Analysis0303 health scienceschromosome 16q3. Good healthReceptors Estrogenpriority journal030220 oncology & carcinogenesisFemalecancer invasionsignal transductionbreast cancer; cancer invasion; cancer risk; chromosome 1; chromosome 16q; chromosome 1q; chromosome 2p; comparative study; follow up; gene locus; genetic association; genetic susceptibility; human; nucleotide sequence; priority journal; signal transduction; single nucleotide polymorphismmedicine.medical_specialtyGenotypegene locusBreast NeoplasmsSingle-nucleotide polymorphismBiologyPolymorphism Single NucleotideArticle03 medical and health sciencesBreast cancerbreast cancerMeta-Analysis as TopicSDG 3 - Good Health and Well-beingInternal medicineexpressionGeneticsmedicineGenetic predispositionHumansfollow upGenetic Predisposition to Diseasehumanchromosome 1gene030304 developmental biologyCase-control studyCancernucleotide sequencemedicine.diseasechromosome 2pGenetic LociCase-Control Studiescommon variantGenome-Wide Association Studygenetic susceptibilityNature Genetics
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Bitter taste genetics and food preference in italian population

2010

Objective: To investigate the possible role of the polymorphic bitter taste gene, TAS2R38, known to be involved in the perception of the bitter synthetic chemical phenylthiocarbamide (PTC), in influencing food preference and body mass index(BMI). Methods: up to now more than 1500 university students (17-25 years old) at Catania, Cosenza, Rome, Palermo, Pisa, Parma, Chieti, Trento University have been enrolled in the study. DNA was extracted from saliva, and genotyped by TaqMan assay for the most frequent polymorphism (PAV/AVI) of TAS2R38 gene. A possible association between genotype and food preference was assessed by administering a detailed questionnaire for food preferences and life styl…

Settore BIO/18 - GeneticaTAS2R38 gene polymorphism. bitter taste geneticsTAS2R38 gene; polymorphism; bitter tastebitter tasteTAS2R38 genepolymorphism
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