0000000000206460

AUTHOR

Maria Grazia Ennas

0000-0002-9448-715x

showing 6 related works from this author

Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia

2013

Genome-wide association studies (GWAS) have previously identified 13 loci associated with risk of chronic lymphocytic leukemia or small lymphocytic lymphoma (CLL). To identify additional CLL susceptibility loci, we conducted the largest meta-analysis for CLL thus far, including four GWAS with a total of 3,100 individuals with CLL (cases) and 7,667 controls. In the meta-analysis, we identified ten independent associated SNPs in nine new loci at 10q23.31 (ACTA2 or FAS (ACTA2/FAS), P = 1.22 × 10-14), 18q21.33 (BCL2, P = 7.76 × 10-11), 11p15.5 (C11orf21, P = 2.15 × 10 -10), 4q25 (LEF1, P = 4.24 × 10-10), 2q33.1 (CASP10 or CASP8 (CASP10/CASP8), P = 2.50 × 10-9), 9p21.3 (CDKN2B-AS1, P = 1.27 × 10…

RiskLinkage disequilibriumChronic lymphocytic leukemiaSingle-nucleotide polymorphismLocus (genetics)Genome-wide association studyBiologyPolymorphism Single NucleotideLinkage DisequilibriumArticleGeneticsmedicineHumansGenetic Predisposition to DiseaseLeucèmia limfocítica crònicaGenome-wide association studies (GWAS)B-cell lymphomachronic lymphocytic leukemia or small lymphocytic lymphoma (CLL)Genetic associationRecombination GeneticGeneticsGenomicsmedicine.diseaseLeukemia Lymphocytic Chronic B-CellGenòmicaLeukemiaGenetic LociCase-Control StudiesChromosomes Human Pair 2Chronic lymphocytic leukemiaGenome-Wide Association Study
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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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HLA Class I and II Diversity Contributes to the Etiologic Heterogeneity of Non-Hodgkin Lymphoma Subtypes

2018

Abstract A growing number of loci within the human leukocyte antigen (HLA) region have been implicated in non-Hodgkin lymphoma (NHL) etiology. Here, we test a complementary hypothesis of “heterozygote advantage” regarding the role of HLA and NHL, whereby HLA diversity is beneficial and homozygous HLA loci are associated with increased disease risk. HLA alleles at class I and II loci were imputed from genome-wide association studies (GWAS) using SNP2HLA for 3,617 diffuse large B-cell lymphomas (DLBCL), 2,686 follicular lymphomas (FL), 2,878 chronic lymphocytic leukemia/small lymphocytic lymphomas (CLL/SLL), 741 marginal zone lymphomas (MZL), and 8,753 controls of European descent. Both DLBCL…

Male0301 basic medicineHeterozygoteCancer Researchmedicine.medical_specialtySUSCEPTIBILITY LOCIChronic lymphocytic leukemiaEPIDEMIOLOGIC RESEARCHGenome-wide association studyHuman leukocyte antigenBiologyCLASSIFICATIONANTIGENSArticleGenetic Heterogeneity03 medical and health sciencesimmune system diseaseshemic and lymphatic diseasesInternal medicinemedicineINTERLYMPHHumans1112 Oncology and CarcinogenesisOncology & CarcinogenesisProspective StudiesGENOME-WIDE ASSOCIATIONAlleleHLA ComplexScience & TechnologyHematologyCHRONIC LYMPHOCYTIC-LEUKEMIAGenetic heterogeneityLymphoma Non-HodgkinHistocompatibility Antigens Class IHistocompatibility Antigens Class IIHETEROZYGOTE ADVANTAGEmedicine.disease3. Good healthLymphoma030104 developmental biologyOncologyCase-Control StudiesImmunologyB-VIRUS INFECTIONFemaleLife Sciences & BiomedicineNEOPLASMSGenome-Wide Association StudyCancer Research
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Non-Hodgkin lymphoma and obesity: A pooled analysis from the InterLymph consortium

2008

Nutritional status is known to alter immune function, a suspected risk factor for non-Hodgkin lymphoma (NHL). To investigate whether long-term over, or under, nutrition is associated with NHL, self-reported anthropometric data on weight and height from over 10,000 cases of NHL and 16,000 controls were pooled across 18 case-control studies identified through the International Lymphoma Epidemiology Consortium. Study-specific odds ratios (OR) were estimated using logistic regression and combined using a random-effects model. Severe obesity, defined as BMI of 40 kg m-2 or more, was not associated with NHL overall (pooled OR = 1.00, 95% confidence interval (CI) 0.70-1.41) or the majority of NHL …

AdultMaleCancer Researchmedicine.medical_specialtyInternational CooperationOverweightRisk AssessmentArticleBody Mass IndexRisk FactorsInternal medicinehemic and lymphatic diseasesEpidemiologyOdds RatiomedicineHumansObesityRisk factorAgedbusiness.industryLymphoma Non-HodgkinBody WeightNon-Hodgkin lymphoma obesity pooled analysis InterLymph consortiumOdds ratioMiddle Agedmedicine.diseaseObesityBody HeightConfidence intervalSurgeryOncologyFemaleLymphoma Large B-Cell Diffusemedicine.symptomUnderweightbusinessBody mass index
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Genome-wide association study identifies five susceptibility loci for follicular lymphoma outside the HLA region.

2014

Genome-wide association studies (GWASs) of follicular lymphoma (FL) have previously identified human leukocyte antigen (HLA) gene variants. To identify additional FL susceptibility loci, we conducted a large-scale two-stage GWAS in 4,523 case subjects and 13,344 control subjects of European ancestry. Five non-HLA loci were associated with FL risk: 11q23.3 (rs4938573, p = 5.79 × 10 -20) near CXCR5; 11q24.3 (rs4937362, p = 6.76 × 10 -11) near ETS1; 3q28 (rs6444305, p = 1.10 × 10 -10) in LPP; 18q21.33 (rs17749561, p = 8.28 × 10 -10) near BCL2; and 8q24.21 (rs13254990, p = 1.06 × 10 -8) near PVT1. In an analysis of the HLA region, we identified four linked HLA-DRß1 multiallelic amino acids at p…

EXPRESSIONFollicular lymphomaSingle-nucleotide polymorphismGenome-wide association studyHuman leukocyte antigenBiologyVARIANTSPolymorphism Single Nucleotidefollicular lymphomaHLA AntigensPolymorphism (computer science)ReportCLASS-IRESOURCEBiomarkers TumorGeneticsmedicineChromosomes HumanHumansTOOLGenetic Predisposition to DiseaseGenetics(clinical)PEPTIDEAlleleLymphoma FollicularAllelesGenetics (clinical)Genetic associationSNPSGeneticsRISKGenome-wide associationHaplotypemedicine.diseaseHLAHaplotypesCase-Control StudiesUNIVERSITYSETGenome-Wide Association Study
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Meta-analysis of genome-wide association studies discovers multiple loci for chronic lymphocytic leukemia

2016

Chronic lymphocytic leukemia (CLL) is a common lymphoid malignancy with strong heritability. To further understand the genetic susceptibility for CLL and identify common loci associated with risk, we conducted a meta-analysis of four genome-wide association studies (GWAS) composed of 3,100 cases and 7,667 controls with follow-up replication in 1,958 cases and 5,530 controls. Here we report three new loci at 3p24.1 (rs9880772, EOMES, P=2.55 × 10−11), 6p25.2 (rs73718779, SERPINB6, P=1.97 × 10−8) and 3q28 (rs9815073, LPP, P=3.62 × 10−8), as well as a new independent SNP at the known 2q13 locus (rs9308731, BCL2L11, P=1.00 × 10−11) in the combined analysis. We find suggestive evidence (P<5 × 10−…

0301 basic medicineMedicin och hälsovetenskapChronic lymphocytic leukemiaGeneral Physics and AstronomyGenome-wide association studyVARIANTSMedical and Health SciencesMalalties hereditàries[ SDV.MHEP.HEM ] Life Sciences [q-bio]/Human health and pathology/HematologyChronicGeneticsRISKLeukemiaMultidisciplinaryBANK1VDP::Medisinske Fag: 700::Helsefag: 800::Samfunnsmedisin sosialmedisin: 801Bcl-2-Like Protein 11QAdaptor Proteins[SDV.MHEP.HEM]Life Sciences [q-bio]/Human health and pathology/HematologySingle NucleotideLymphocytic3. Good healthPRIORITIZATIONMultidisciplinary SciencesLeukemiamedicine.anatomical_structureScience & Technology - Other TopicsTRANSCRIPTION FACTOR EOMESODERMINGenetic disordersEXPRESSIONSUSCEPTIBILITY LOCIScienceEuropean Continental Ancestry GroupFAS GENE-MUTATIONSLocus (genetics)BiologyPolymorphism Single NucleotideGeneral Biochemistry Genetics and Molecular BiologyCLASSIFICATIONWhite PeopleArticle03 medical and health sciencesProto-Oncogene ProteinsMD MultidisciplinarymedicineGenetic predispositionSNPHumansLeucèmia limfocítica crònicaGenetic Predisposition to DiseasePolymorphismB cellSerpinsGenetic associationAdaptor Proteins Signal TransducingScience & TechnologySignal TransducingB-CellMembrane ProteinsGeneral Chemistrymedicine.diseaseLeukemia Lymphocytic Chronic B-Cell030104 developmental biologyChronic lymphocytic leukemiaVDP::Medical disciplines: 700::Health sciences: 800::Community medicine Social medicine: 801Apoptosis Regulatory ProteinsT-Box Domain ProteinsFOLLICULAR LYMPHOMAGenome-Wide Association Study
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