Search results for "genetic susceptibility"

showing 10 items of 17 documents

Genetic Variation in HSD17B13 Reduces the Risk of Developing Cirrhosis and Hepatocellular Carcinoma in Alcohol Misusers.

2020

Background and aims Carriage of rs738409:G in patatin-like phospholipase domain containing 3 (PNPLA3) is associated with an increased risk for developing alcohol-related cirrhosis and hepatocellular carcinoma (HCC). Recently, rs72613567:TA in hydroxysteroid 17-beta dehydrogenase 13 (HSD17B13) was shown to be associated with a reduced risk for developing alcohol-related liver disease and to attenuate the risk associated with carriage of PNPLA3 rs738409:G. This study explores the risk associations between these two genetic variants and the development of alcohol-related cirrhosis and HCC. Approach and results Variants in HSD17B13 and PNPLA3 were genotyped in 6,171 participants, including 1,03…

0301 basic medicineMaleCirrhosis17-Hydroxysteroid DehydrogenasesVARIANTPROGRESSIONGastroenterologyCohort StudiesLiver disease0302 clinical medicineSNP RS738409G ALLELEDEPENDENCELiver Cirrhosis Alcoholic600 Technology610 Medicine & healthAged 80 and overeducation.field_of_studyFramingham Risk ScoreLiver NeoplasmsASSOCIATIONlipotoxicityMiddle AgedAlcoholism1101 Medical Biochemistry and Metabolomics1107 ImmunologyHepatocellular carcinomaadiponutrin030211 gastroenterology & hepatologyFemalecandidate genesLife Sciences & Biomedicinemedicine.medical_specialtyCarcinoma HepatocellularPopulation610 Medicine & healthLower riskRisk Assessment03 medical and health sciencesLIVER-DISEASEInternal medicinemedicinegenetic risk associationHumansAdiponutrineducationPNPLA3METAANALYSISAgedDISEASE-ASSOCIATED MORTALITYScience & TechnologyHepatologyGastroenterology & Hepatologybusiness.industryfibrosisGenetic Variation1103 Clinical SciencesOdds ratiomedicine.disease030104 developmental biologyhost geneticsbusinessgenetic susceptibility
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Genetic justification of severe COVID-19 using a rigorous algorithm

2021

Recent studies suggest excessive complement activation in severe coronavirus disease-19 (COVID-19). The latter shares common characteristics with complement-mediated thrombotic microangiopathy (TMA). We hypothesized that genetic susceptibility would be evident in patients with severe COVID-19 (similar to TMA) and associated with disease severity. We analyzed genetic and clinical data from 97 patients hospitalized for COVID-19. Through targeted next-generation-sequencing we found an ADAMTS13 variant in 49 patients, along with two risk factor variants (C3, 21 patients; CFH,34 patients). 31 (32%) patients had a combination of these, which was independently associated with ICU hospitalization (…

0301 basic medicineMaleThrombomodulinSeverity of Illness Index0302 clinical medicineRisk FactorsImmunology and AllergyMedicineComplement ActivationRigorous algorithmmedicine.diagnostic_testHigh-Throughput Nucleotide SequencingComplement C3EculizumabEculizumabMiddle AgedHospitalizationSettore ICAR/09 - Tecnica Delle CostruzioniIntensive Care UnitsFactor HComplement Factor HFemaleAlgorithmsmedicine.drugmedicine.medical_specialtyThrombotic microangiopathyCritical CareImmunologyComplementADAMTS13 Protein03 medical and health sciencesInternal medicineFull Length ArticleSeverity of illnessGenetic predispositionGenetic susceptibilityHumansGenetic Predisposition to DiseaseGenetic TestingRisk factorGenetic testingAgedbusiness.industryThrombotic MicroangiopathiesCOVID-19medicine.diseaseComplement system030104 developmental biologySARS-CoV2business030215 immunologyClinical Immunology (Orlando, Fla.)
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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 susceptibility to the coronary artery diseases

2016

The origin of coronary arterydisease is the interaction between genetic predisposition and environmental influences.

Genetic susceptibilitycoronary artery disease
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Genetic susceptibility of increased intestinal permeability is associated with progressive liver disease and diabetes in patients with non-alcoholic …

2020

Abstract Background and aim Increased intestinal permeability plays a key role in the pathogenesis of fat deposition in the liver. The aim of our study was to assess whether a single nucleotide polymorphism of protein tyrosine phosphatase non-receptor type 2 (PTPN2) (rs2542151 T→G), involved in intestinal permeability, may be associated with non-alcoholic fatty liver disease (NAFLD) and type 2 diabetes mellitus (T2DM). Methods and results We recruited a prospective cohort of NAFLD subjects and matched controls. Clinical data, PTPN2 genotype and laboratory data were collected for each patient. Results were stratified according to liver histology and diabetes. We enrolled 566 cases and 377 co…

Liver CirrhosisMaleEndocrinology Diabetes and MetabolismMedicine (miscellaneous)030204 cardiovascular system & hematologySeverity of Illness IndexGastroenterologyLiver disease0302 clinical medicineNon-alcoholic Fatty Liver DiseaseRisk FactorsNonalcoholic fatty liver diseasePrevalenceProspective StudiesProtein Tyrosine Phosphatase Non-Receptor Type 2Nutrition and Dieteticsmedicine.diagnostic_testFatty liverMiddle AgedPhenotypeItalyLiver biopsyFemaleCardiology and Cardiovascular MedicineAdultmedicine.medical_specialtySettore MED/12 - GASTROENTEROLOGIA030209 endocrinology & metabolismIntestinal permeabilityPolymorphism Single NucleotideRisk AssessmentPermeability03 medical and health sciencesInternal medicineDiabetes mellitusmedicineGenetic susceptibilityHumansNonalcoholic fatty liver diseaseGenetic Predisposition to DiseaseGenetic Association Studiesbusiness.industryType 2 Diabetes Mellitusmedicine.diseaseCross-Sectional StudiesDiabetes Mellitus Type 2Intestinal AbsorptionCase-Control StudiesSteatosisSteatohepatitisbusiness
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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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Whole-exome sequencing and targeted gene sequencing provide insights into the role of PALB2 as a male breast cancer susceptibility gene

2016

Male breast cancer (MBC) is a rare disease whose etiology appears to be largely associated with genetic factors. BRCA1 and BRCA2 mutations account for about 10% of all MBC cases. Thus, a fraction of MBC cases are expected to be due to genetic factors not yet identified. To further explain the genetic susceptibility for MBC, whole-exome sequencing (WES) and targeted gene sequencing were applied to high-risk, BRCA1/2 mutation-negative MBC cases.Germ-line DNA of 1 male and 2 female BRCA1/2 mutation-negative breast cancer (BC) cases from a pedigree showing a first-degree family history of MBC was analyzed with WES. Targeted gene sequencing for the validation of WES results was performed for 48 …

MaleCancer ResearchDNA Mutational AnalysisBreast NeoplasmsBreast Neoplasms MaleDNA Mutational AnalysiGenetic susceptibility; Male breast cancer; N-acetyltransferase 1 (NAT1); Partner and localizer of BRCA2 (PALB2); Whole-exome sequencing; Oncology; Cancer ResearchGenetic susceptibilityHumansExomeGenetic Predisposition to DiseaseN-acetyltransferase 1 (NAT1)genetic susceptibility; male breast cancer; N-acetyltransferase 1 (NAT1); partner and localizer of BRCA2 (PALB2); whole-exome sequencing; BRCA1 Protein; BRCA2 Protein; Breast Neoplasms; Breast Neoplasms Male; Case-Control Studies; DNA Mutational Analysis; Exome; Fanconi Anemia Complementation Group N Protein; Female; Genetic Predisposition to Disease; Humans; Italy; Male; Mutation; Nuclear Proteins; Pedigree; Tumor Suppressor Proteins; Oncology; Cancer ResearchNuclear ProteinBRCA2 ProteinTumor Suppressor ProteinBRCA1 ProteinTumor Suppressor ProteinsPartner and localizer of BRCA2 (PALB2)Nuclear ProteinsPedigreeMale breast cancerItalyOncologyCase-Control StudiesWhole-exome sequencingMutationFemaleCase-Control StudieFanconi Anemia Complementation Group N ProteinBreast NeoplasmHuman
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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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