Search results for " Genetic susceptibility"

showing 9 items of 9 documents

Contribution of MUTYH variants to male breast cancer risk: results from a multicenter study in Italy

2018

Inherited mutations in BRCA1, and, mainly, BRCA2 genes are associated with increased risk of male breast cancer (MBC). Mutations in PALB2 and CHEK2 genes may also increase MBC risk. Overall, these genes are functionally linked to DNA repair pathways, highlighting the central role of genome maintenance in MBC genetic predisposition. MUTYH is a DNA repair gene whose biallelic germline variants cause MUTYH-associated polyposis (MAP) syndrome. Monoallelic MUTYH variants have been reported in families with both colorectal and breast cancer and there is some evidence on increased breast cancer risk in women with monoallelic variants. In this study, we aimed to investigate whether MUTYH germline v…

0301 basic medicineOncologyCancer Researchmedicine.medical_specialtyMUTYHBRCA1/2; MUTYH; MUTYH-associated polyposis (MAP) syndrome; NGS; breast cancer risk; genetic susceptibility; male breast cancerPALB2male breast cancerlcsh:RC254-28203 medical and health sciencesbreast cancer risk0302 clinical medicineBreast cancerMUTYHBRCA1/2Internal medicinemedicineGenetic predispositionskin and connective tissue diseasesCHEK2MUTYH-associated polyposis (MAP) syndromeOriginal Researchbusiness.industryCancermedicine.diseaselcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogensPenetrancemale breast cancer; genetic susceptibility; BRCA1/2; MUTYH; NGS; MUTYH-associated polyposis (MAP) syndrome; breast cancer risk030104 developmental biologyOncology030220 oncology & carcinogenesisMale breast cancerNGSbusinessgenetic susceptibility
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Polymorphisms within the ARNT2 and CX3CR1 Genes Are Associated with the Risk of Developing Invasive Aspergillosis.

2020

Invasive aspergillosis (IA) is a life-threatening infection that affects an increasing number of patients undergoing chemotherapy or allo-transplantation, and recent studies have shown that genetic factors contribute to disease susceptibility. In this two-stage, population-based, case-control study, we evaluated whether 7 potentially functional single nucleotide polymorphisms (SNPs) within the ARNT2 and CX3CR1 genes influence the risk of IA in high-risk hematological patients. We genotyped selected SNPs in a cohort of 500 hematological patients (103 of those had been diagnosed with proven or probable IA), and we evaluated their association with the risk of developing IA. The association of …

0301 basic medicinehost immunityGenotype030106 microbiologyImmunologyPopulationCX3C Chemokine Receptor 1Single-nucleotide polymorphismARNT2 ; CX3CR1 ; genetic susceptibility; host immunity; invasive aspergillosisBiologyAspergillosisMicrobiologyPolymorphism Single NucleotideRisk Assessment03 medical and health sciencesCX3CR1GenotypemedicineGenetic predispositionBasic Helix-Loop-Helix Transcription FactorsHumansGenetic Predisposition to DiseaseARNT2AlleleeducationInvasive Pulmonary Aspergillosiseducation.field_of_studyinvasive aspergillosisHaplotypeAryl Hydrocarbon Receptor Nuclear TranslocatorPCRAGA Study Groupmedicine.diseaseHematologic Diseases3. Good healthSettore MED/15 - MALATTIE DEL SANGUE030104 developmental biologyInfectious DiseasesAspergillusCase-Control StudiesExpression quantitative trait lociImmunologyParasitologygenetic susceptibility
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Lack of association between estrogen receptor 1 gene polymorphisms and multiple sclerosis in southern Italy in humans

2002

Estrogen receptor 1 gene polymorphisms (ESR1) have been found to be associated with multiple sclerosis (MS) in both Japanese and Finnish populations. We investigated the association between ESR1 polymorphisms (PvuII and XbaI) and MS in a study of 132 MS patients and 129 controls from the same geographic background (southern Italy). Allelic and genotypic frequencies were not different between MS patients and population controls for either the PvuII or XbaI polymorphism. This result suggests that the association between a given disease and a genomic characteristic must be confirmed by separate investigations in different populations. © 2002 Elsevier Science Ireland Ltd. All rights reserved.

AdultMaleMultiple SclerosisAdolescentGenotypePopulationEstrogen receptorBiologyGene FrequencyPolymorphism (computer science)GenotypemedicineGenetic predispositionHumansGenetic Predisposition to DiseaseAlleleeducationAgededucation.field_of_studyPolymorphism GeneticGeneral NeuroscienceMultiple sclerosisEstrogen Receptor alphaEstrogen receptor Genetic susceptibility Italians Multiple sclerosis PolymorphismMiddle Agedmedicine.diseaseItalyReceptors EstrogenImmunologyFemaleEstrogen receptor alphaNeuroscience Letters
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Genetic prediction of ICU hospitalization and mortality in COVID‐19 patients using artificial neural networks

2021

There is an unmet need of models for early prediction of morbidity and mortality of Coronavirus disease-19 (COVID-19). We aimed to a) identify complement-related genetic variants associated with the clinical outcomes of ICU hospitalization and death, b) develop an artificial neural network (ANN) predicting these outcomes and c) validate whether complement-related variants are associated with an impaired complement phenotype. We prospectively recruited consecutive adult patients of Caucasian origin, hospitalized due to COVID-19. Through targeted next-generation sequencing, we identified variants in complement factor H/CFH, CFB, CFH-related, CFD, CD55, C3, C5, CFI, CD46, thrombomodulin/THBD, …

Male0304 Medicinal and Biomolecular Chemistry 0601 Biochemistry and Cell Biology 1103 Clinical SciencesBiochemistry & Molecular BiologyGreeceModels GeneticThrombomodulinCOVID-19Complement System ProteinsCell BiologyMiddle AgedPolymorphism Single NucleotideHospitalizationSettore ICAR/09 - Tecnica Delle CostruzioniIntensive Care UnitsComplement Factor HHumansMolecular MedicineFemaleNeural Networks ComputerMorbidityartificial intelligence complement complement inhibition COVID-19 genetic susceptibility SARS-CoV2Complement ActivationJournal of Cellular and Molecular Medicine
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Search for genetic factors associated with susceptibility to multiple sclerosis.

2006

Multiple sclerosis (MS) is a cell-mediated autoimmune disease characterized by type-1 cytokine production. Environmental and individual genetic background might influence this response particularly in cytokine gene polymorphisms. We evaluated whether polymorphisms of interleukin (IL)-10, IL-12, and tumor necrosis factor (TNF)-alpha genes, which might play a role in MS pathogenesis, are associated with MS susceptibility. Genotype frequencies for all the analyzed polymorphisms were not differently distributed between cases and controls. It is reasonable to suppose that the cytokine single-nucleotide polymorphisms (SNPs) studied must be considered against a larger genetic background involving …

MaleMultiple Sclerosismedicine.medical_treatmentSingle-nucleotide polymorphismBiologyPolymorphism Single NucleotideGeneral Biochemistry Genetics and Molecular BiologyHistory and Philosophy of ScienceGene FrequencymedicineSNPHumansGenetic Predisposition to DiseaseGeneticsAutoimmune diseasePolymorphism GeneticTumor Necrosis Factor-alphaGeneral NeuroscienceMultiple sclerosisInterleukinmedicine.diseaseInterleukin-12Genotype frequencyInterleukin-10tumor necrosis factor alpha genetic polymorphism genetic susceptibility genotype heredity human major clinical studyInterleukin 10CytokineCase-Control StudiesImmunologyCytokinesFemaleDisease SusceptibilityAnnals of the New York Academy of Sciences
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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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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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Childhood trauma and substance use underlying psychosis: a systematic review

2020

[EN] Background: Schizophrenia spectrum disorders (SSD) are mental diseases caused by a combination of genetic susceptibility and a number of environmental factors. Among these factors, the role of traumatic events suffered in childhood, as well as that of substance use, have been of particular research interest. Objectives: To conduct a systematic review to clarify whether there is an interaction between childhood trauma and substance use related to the diagnosis or symptoms of SSD. It was also the objective of this review to collate the associations that may exist between the three variables of the study (trauma, substance use and psychosis). Methods: We conducted a systematic search resu…

PsychosisSubstances useRC435-571Poison controlEsquizofreniaReview Article药物滥用Cannabis useSuicide preventionOccupational safety and healthChildhood traumaConsumo de cannabis思觉失调Injury preventionmedicinePsicosisPsychiatryWindow of opportunitybusiness.industryHuman factors and ergonomicsConsumo de sustanciasmedicine.diseasePsychosis• Schizophrenia is caused by a combination of genetic susceptibility and a number of environmental factors. Traumatic events suffered in childhood as well as substance use have been of particular interest.• Our results reveal a positive association between traumatic experiences in childhood and drug use and their interaction with schizophrenia spectrum disorders.• Detecting cases of childhood trauma as well as cases of trauma associated with substance use could be useful for the primary prevention of some psychiatric diseases such as psychosis.大麻使用精神分裂症SchizophreniaTrauma infantilSchizophreniabusiness童年创伤Clinical psychology
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TGF-&beta;/VEGF-A Genetic Variants Interplay in Genetic Susceptibility to Non-Melanocytic Skin Cancer

2022

Differential genetically determined expression of transforming growth factor-&beta; (TGF-&beta; pathway and of vascular endothelial growth factor-A (VEGF-A) might modulate the molecular &ldquo;milieu&rdquo; involved in the etio-pathogenesis of non-melanoma skin cancer (NMSC). We have evaluated the frequency of some functionally relevant SNPs of TGF-&beta; and VEGF-A genes in 70 NMSC patients and 161 healthy controls, typed for TGF-&beta;1 rs1800471, TGF-&beta;2 rs900, TGF-&beta;R1 rs334348 and rs334349, TGF-&beta;R2 rs4522809 and VEGF-A rs3025039 SNPs. TGF-&beta;R2 rs1800629G allele and related genotypes were found to be associated with a possible protective role against NMSC, whereas VEGF-…

Settore MED/04 - Patologia GeneraleVEGF-A geners1800629<i>TGF-β receptor genes</i>; <i>rs1800629</i>; <i>VEGF-A gene</i>; <i>rs3025039</i>; non melanocytic skin cancer; skin basal cell carcinoma; skin squamous cell carcinoma; genetic susceptibilityTGF-β receptor geneGeneticsskin basal cell carcinomaskin squamous cell carcinomaSettore MED/05 - Patologia Clinicanon melanocytic skin cancerGenetics (clinical)genetic susceptibilityrs3025039Genes; Volume 13; Issue 7; Pages: 1235
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