0000000000338719

AUTHOR

David V. Conti

showing 4 related works from this author

A Genome-wide Association Study of Early-onset Breast Cancer Identifies PFKM as a Novel Breast Cancer Gene and Supports a Common Genetic Spectrum for…

2014

Abstract Early-onset breast cancer (EOBC) causes substantial loss of life and productivity, creating a major burden among women worldwide. We analyzed 1,265,548 Hapmap3 single-nucleotide polymorphisms (SNP) among a discovery set of 3,523 EOBC incident cases and 2,702 population control women ages ≤ 51 years. The SNPs with smallest P values were examined in a replication set of 3,470 EOBC cases and 5,475 control women. We also tested EOBC association with 19,684 genes by annotating each gene with putative functional SNPs, and then combining their P values to obtain a gene-based P value. We examined the gene with smallest P value for replication in 1,145 breast cancer cases and 1,142 control …

EpidemiologyPopulationGenome-wide association studySingle-nucleotide polymorphismBreast NeoplasmsBiologyPolymorphism Single NucleotideArticle03 medical and health sciences0302 clinical medicineBreast cancerSDG 3 - Good Health and Well-beingPhosphofructokinase-1 Muscle TypeGenetic predispositionmedicineBiomarkers TumorSNPHumansGenetic Predisposition to DiseaseeducationGene030304 developmental biologyGenetics0303 health scienceseducation.field_of_studyMiddle Agedmedicine.disease3. Good healthOncologyPFKM030220 oncology & carcinogenesisCase-Control StudiesFemaleGenome-Wide Association Study
researchProduct

Genetic overlap between autoimmune diseases and non-Hodgkin lymphoma subtypes.

2019

International audience; Epidemiologic studies show an increased risk of non-Hodgkin lymphoma (NHL) in patients with autoimmune disease (AD), due to a combination of shared environmental factors and/or genetic factors, or a causative cascade: chronic inflammation/antigen-stimulation in one disease leads to another. Here we assess shared genetic risk in genome-wide-association-studies (GWAS). Secondary analysis of GWAS of NHL subtypes (chronic lymphocytic leukemia, diffuse large B-cell lymphoma, follicular lymphoma, and marginal zone lymphoma) and ADs (rheumatoid arthritis, systemic lupus erythematosus, and multiple sclerosis). Shared genetic risk was assessed by (a) description of regional g…

OncologyMaleMultifactorial InheritanceLymphomaEpidemiologyChronic lymphocytic leukemiaFollicular lymphomaGenome-wide association studyDiseaseNeurodegenerativemeta-analysiimmune system diseasesHLA AntigensRisk Factorshemic and lymphatic diseases2.1 Biological and endogenous factorsHLA AntigenAetiologyGenetics (clinical)CancerAllele0303 health sciences[SDV.MHEP] Life Sciences [q-bio]/Human health and pathologyLymphoma Non-Hodgkinnon-Hodgkin lymphoma030305 genetics & hereditySingle NucleotideHematologyMiddle Aged3. Good healthnon-Hodgkin lymphoma.Public Health and Health ServicesFemaleHumanmedicine.medical_specialtyautoimmune disease; genome-wide association study; meta-analysis; non-Hodgkin lymphoma; Alleles; Autoimmune Diseases; Female; HLA Antigens; Humans; Lymphoma Non-Hodgkin; Male; Middle Aged; Multifactorial Inheritance; Polymorphism Single Nucleotide; Risk Factors; Genetic Predisposition to DiseaseNon-Hodgkinautoimmune diseasePolymorphism Single NucleotideArticleAutoimmune Diseases03 medical and health sciencesRare DiseasesInternal medicineGenetic variationmedicineGeneticsHumansGenetic Predisposition to DiseasePolymorphismAlleles030304 developmental biologyAutoimmune diseasegenome-wide association studybusiness.industryMultiple sclerosisRisk FactorArthritisInflammatory and immune systemHuman Genomemedicine.diseaseLymphomaBrain Disordersmeta-analysisbusiness[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
researchProduct

A meta-analysis of Hodgkin lymphoma reveals 19p13.3 TCF3 as a novel susceptibility locus

2014

Contains fulltext : 137763.pdf (Publisher’s version ) (Open Access) Recent genome-wide association studies (GWAS) of Hodgkin lymphoma (HL) have identified associations with genetic variation at both HLA and non-HLA loci; however, much of heritable HL susceptibility remains unexplained. Here we perform a meta-analysis of three HL GWAS totaling 1,816 cases and 7,877 controls followed by replication in an independent set of 1,281 cases and 3,218 controls to find novel risk loci. We identify a novel variant at 19p13.3 associated with HL (rs1860661; odds ratio (OR)=0.81, 95% confidence interval (95% CI)=0.76-0.86, Pcombined=3.5 x 10(-10)), located in intron 2 of TCF3 (also known as E2A), a regul…

AdultMaleAdolescent[SDV]Life Sciences [q-bio]TRANSCRIPTION FACTOR E2AGENETIC-ASSOCIATIONGeneral Physics and AstronomyLocus (genetics)Genome-wide association studyHuman leukocyte antigenBiologyGeneral Biochemistry Genetics and Molecular BiologyArticleDISEASEYoung AdultBasic Helix-Loop-Helix Transcription FactorsHumansTOOLGenetic Predisposition to DiseaseAlleleGENOME-WIDE ASSOCIATIONEPSTEIN-BARR-VIRUSGenetic associationAgedGeneticsAged 80 and overRISKMultidisciplinaryCELL-TYPECase-control studyGenetic VariationGeneral ChemistryOdds ratioGenomicsMiddle AgedALLELESHodgkin DiseaseCANCERMalaltia de HodgkinHodgkin lymphoma (HL)GenòmicaGenetic epidemiologyCase-Control StudiesUrological cancers Radboud Institute for Health Sciences [Radboudumc 15]Hodgkin's diseaseChromosomes Human Pair 19Genome-Wide Association Study
researchProduct

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
researchProduct