Search results for "Polymorphism"

showing 10 items of 1968 documents

The MBOAT7-TMC4 Variant rs641738 Increases Risk of Nonalcoholic Fatty Liver Disease in Individuals of European Descent

2016

Background & Aims Nonalcoholic fatty liver disease (NAFLD) is a leading cause of liver damage and is characterized by steatosis. Genetic factors increase risk for progressive NAFLD. A genome-wide association study showed that the rs641738 C>T variant in the locus that contains the membrane bound O-acyltransferase domain-containing 7 gene (MBOAT7, also called LPIAT1) and transmembrane channel-like 4 gene (TMC4) increased the risk for cirrhosis in alcohol abusers. We investigated whether the MBOAT7-TMC4 is a susceptibility locus for the development and progression of NAFLD. Methods We genotyped rs641738 in DNA collected from 3854 participants from the Dallas Heart Study (a multi-ethnic…

Liver CirrhosisMale0301 basic medicineCirrhosisBiopsyProton Magnetic Resonance SpectroscopyPhosphatidylinositolsTriglycerideSeverity of Illness IndexGastroenterologyLiver disease0302 clinical medicineNon-alcoholic Fatty Liver DiseaseRisk FactorsNonalcoholic fatty liver diseaseMembrane Proteineducation.field_of_studyArachidonic Acidmedicine.diagnostic_testNASHGastroenterologyTexasEuropePhenotypeLiverLiver biopsyFemale030211 gastroenterology & hepatologyTexaCase-Control StudiePhosphatidylinositolHumanmedicine.medical_specialtyAcyltransferaseLiver CirrhosiEuropean Continental Ancestry GroupPopulationTM6SF2White PeopleArticle03 medical and health sciencesArachidonic Acid; NASH; PNPLA3; TM6SF2; Acetyltransferases; Acyltransferases; Biopsy; Case-Control Studies; Cross-Sectional Studies; Europe; European Continental Ancestry Group; Female; Genetic Predisposition to Disease; Genome-Wide Association Study; Humans; Liver; Liver Cirrhosis; Male; Membrane Proteins; Non-alcoholic Fatty Liver Disease; Phenotype; Phosphatidylinositols; Proton Magnetic Resonance Spectroscopy; Risk Factors; Severity of Illness Index; Texas; Triglycerides; Polymorphism GeneticGeneticAcetyltransferasesInternal medicineAcetyltransferasemedicineHumansGenetic Predisposition to DiseasePolymorphismeducationPNPLA3TriglyceridesCross-Sectional StudiePolymorphism GeneticHepatologybusiness.industryRisk FactorCase-control studyMembrane Proteinsmedicine.diseaseCross-Sectional Studies030104 developmental biologyEndocrinologyCase-Control StudiesSteatosisbusinessAcyltransferasesGenome-Wide Association StudyTM6SF2Gastroenterology
researchProduct

Fibronectin Type III Domain–Containing Protein 5 rs3480 A>G Polymorphism, Irisin, and Liver Fibrosis in Patients With Nonalcoholic Fatty Liver Dis…

2017

Context Contrasting data have been reported on the role of irisin, a novel myokine encoded by the fibronectin type III domain-containing protein 5 (FNDC5) gene, in nonalcoholic fatty liver disease (NAFLD) pathogenesis. We tested in patients with suspected nonalcoholic steatohepatitis (NASH) the association of FNDC5 variants, hepatic expression, and circulating irisin with liver damage (F2 to F4 fibrosis as main outcome). We also investigated whether irisin modulates hepatocellular fat accumulation and stellate cell activation in experimental models. Methods We considered 593 consecutive patients who underwent liver biopsy for suspected NASH and 192 patients with normal liver enzymes and wit…

Liver CirrhosisMale0301 basic medicineEndocrinology Diabetes and MetabolismClinical BiochemistrySeverity of Illness IndexBiochemistryGastroenterologyMiceEndocrinologyNon-alcoholic Fatty Liver DiseaseFibrosisNonalcoholic fatty liver diseaseOdds RatioProspective StudiesCarbon Tetrachloridemedicine.diagnostic_testReverse Transcriptase Polymerase Chain ReactionHep G2 CellsMiddle AgedFNDC5LiverLiver biopsyFemaleAdultmedicine.medical_specialtyIn Vitro TechniquesDiet High-FatReal-Time Polymerase Chain ReactionPolymorphism Single Nucleotide03 medical and health sciencesDiabetes mellitusInternal medicineMyokineHepatic Stellate CellsmedicineAnimalsHumansFNDC5 IRISIN NAFLDGenetic Predisposition to Diseasebusiness.industryBiochemistry (medical)medicine.diseasedigestive system diseasesFibronectins030104 developmental biologyEndocrinologyCase-Control StudiesHepatic stellate cellSteatosisbusinessThe Journal of Clinical Endocrinology & Metabolism
researchProduct

MERTK rs4374383 polymorphism affects the severity of fibrosis in non-alcoholic fatty liver disease

2015

Background & Aim Homozygosity for a common non-coding rs4374383 G>A polymorphism in MERTK (myeloid-epithelial-reproductive tyrosine kinase) has been associated with the protection against fibrosis progression in chronic hepatitis C. The main study objective was to assess whether MERTK AA genotype influences liver fibrosis, and secondarily MERTK expression in patients with non-alcoholic fatty liver disease (NAFLD). We also investigated whether MERTK is expressed in human hepatic stellate cells (HSC) and in murine models of fibrogenesis. Methods We considered 533 consecutive patients who underwent liver biopsy for suspected non-alcoholic steatohepatitis (NASH) without severe obesity from two …

Liver CirrhosisMale0301 basic medicineMessengerMice0302 clinical medicineNon-alcoholic Fatty Liver DiseaseFibrosisInbred BALB CCells CulturedMice Inbred BALB CCulturedmedicine.diagnostic_testMedicine (all)Fatty liverNASHMiddle AgedLiver biopsyFemale030211 gastroenterology & hepatologyAdultmedicine.medical_specialtyMERTKCellsBiology03 medical and health sciencesGeneticProto-Oncogene ProteinsInternal medicinemedicineAnimalsHumansFibrosis; MERTK; NASH; Adult; Animals; Cells Cultured; Female; Humans; Liver Cirrhosis; Male; Mice Inbred BALB C; Middle Aged; Non-alcoholic Fatty Liver Disease; Proto-Oncogene Proteins; RNA Messenger; Receptor Protein-Tyrosine Kinases; Polymorphism Genetic; Medicine (all); HepatologyRNA MessengerPolymorphismPolymorphism Geneticc-Mer Tyrosine KinaseHepatologyGAS6Receptor Protein-Tyrosine Kinasesnafld fibrosis mertkMERTKHepatologymedicine.diseaseFibrosis030104 developmental biologyImmunologyHepatic stellate cellRNASteatohepatitisJournal of Hepatology
researchProduct

IL-6 -174G/C polymorphism and IL-6 serum levels in patients with liver cirrhosis and hepatocellular carcinoma.

2011

Recently, a link between high levels of circulating IL-6 and hepatocellular carcinoma (HCC) has been proposed. In addition, single nucleotide polymorphisms (SNPs) in the promoter region of the IL-6 gene have been reported to be related to several inflammatory-related conditions, including cancer. The purpose of this article is: (1) to evaluate the frequencies of SNPs in the IL-6 promoter region at position -174 and IL-6 serum levels in a group of patients with HCC and underlying liver cirrhosis (LC), and compare them with a group of LC patients without HCC; (2) to determine whether a possible correlation exists between the allelic variations, IL-6 serum levels, and the risk of developing HC…

Liver CirrhosisMaleCirrhosisCarcinoma HepatocellularGenotypeSNPSingle-nucleotide polymorphismEnzyme-Linked Immunosorbent AssayBioinformaticsBiochemistryPolymerase Chain ReactionPolymorphism Single NucleotideGene FrequencyGeneticsmedicineHumansAlleleHCCInterleukin 6Molecular BiologyGeneIL-6biologyInterleukin-6Liver NeoplasmsPromotermedicine.diseaseHepatocellular carcinomabiology.proteinCancer researchIL-6 -174G/C polymorphism liver cirrhosis hepatocellular carcinomaMolecular MedicineFemaleRestriction fragment length polymorphismPolymorphism Restriction Fragment LengthBiotechnology
researchProduct

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
researchProduct

PNPLA3 rs738409 I748M is associated with steatohepatitis in 434 non-obese subjects with hepatitis C

2015

Summary Background The PNPLA3/Adiponutrin rs738409 C/G single nucleotide polymorphism is associated with the severity of steatosis, steatohepatitis and fibrosis in patients with non-alcoholic fatty liver disease, as well as the severity of steatosis and fibrosis in patients with chronic hepatitis C (CHC). Aim To test in genotype 1(G1)-CHC patients, the putative association between the PNPLA3 variant and histological features of steatohepatitis, as well as their impact on the severity of fibrosis. Methods Four hundred and thirty-four consecutively biopsied Caucasian G1-CHC patients were genotyped for PNPLA3 rs738409, its effect evaluated by using an additive model. Histological features of s…

Liver CirrhosisMaleHepacivirusGastroenterologyCohort StudiesNon-alcoholic Fatty Liver DiseaseFibrosisGenotypePharmacology (medical)ChronicMembrane ProteinSettore MED/12 - Gastroenterologiaeducation.field_of_studyMedicine (all)Fatty liverGastroenterologySingle NucleotideHepatitis CMiddle AgedHepatitis CFemaleHumanAdultmedicine.medical_specialtyLogistic ModelGenotypeLiver CirrhosiEuropean Continental Ancestry GroupSingle-nucleotide polymorphismSettore MED/08 - Anatomia PatologicaPolymorphism Single NucleotideWhite PeopleInternal medicinemedicineHumansAdiponutrinObesityPolymorphismeducationAdult; Cohort Studies; European Continental Ancestry Group; Fatty Liver; Female; Genotype; Hepacivirus; Hepatitis C Chronic; Humans; Lipase; Liver Cirrhosis; Logistic Models; Male; Membrane Proteins; Middle Aged; Non-alcoholic Fatty Liver Disease; Obesity; Polymorphism Single Nucleotide; Pharmacology (medical); Medicine (all)HepaciviruHepatologybusiness.industryMembrane ProteinsLipaseHepatitis C Chronicmedicine.diseaseFatty LiverLogistic ModelsCohort StudieSteatosisSteatohepatitisbusinessAlimentary Pharmacology & Therapeutics
researchProduct

Role of IL-28B and inosine triphosphatase polymorphisms in efficacy and safety of Peg-Interferon and ribavirin in chronic hepatitis C compensated cir…

2013

Genetic factors can influence the outcome of antiviral therapy in chronic hepatitis C (HCV). We evaluated the role of interleukin-28B single nucleotide polymorphisms (SNPs) and inosine triphosphatase (ITPA) gene variants in HCV cirrhosis treated with Peg-Interferon and ribavirin. A prospective cohort of 233 patients with compensated cirrhosis received 1-1.5 μg/kg/week of Peg-Interferon alpha-2b plus 1000-1200 mg/day of RBV for 48 weeks. A sustained virologic response (SVR) was achieved in 27% of patients. On multivariate logistic analysis, the absence of oesophageal varices (OR 3.64 CI 95% 1.27-10.44 P = 0.016), infection with genotype 2 or 3 (OR 4.06, CI 95% 1.08-15.26, P = 0.038), C/C all…

Liver CirrhosisMaleSettore MED/07 - Microbiologia E Microbiologia ClinicaAnemia HemolyticGenotypeHepacivirusInterferon alpha-2Esophageal and Gastric VaricesAntiviral AgentsPolymorphism Single NucleotidePolyethylene GlycolsSettore BIO/13 - Biologia ApplicataRibavirinHumanschronic hepatitis C cirrhosis IL-28B inosine triphosphatase sustained virologic responseProspective StudiesPyrophosphatasesGenetic Association StudiesAgedSettore MED/12 - GastroenterologiaDose-Response Relationship DrugInterleukinsInterferon-alphaSequence Analysis DNAHepatitis C ChronicMiddle AgedRecombinant ProteinsLogistic ModelsTreatment OutcomeMultivariate AnalysisDrug Therapy CombinationFemaleInterferonsJournal of viral hepatitis
researchProduct

Genetic variation in the TLL1 gene is not associated with fibrosis in patients with metabolic associated fatty liver disease.

2020

Metabolic associated fatty liver disease (MAFLD) is the most prevalent liver disease in Western nations, with high heritability. A recent study of Japanese patients with the disease suggested that TLL1 rs17047200 is associated with fibrosis; whether a similar association is observed in Caucasian patients with MAFLD is unknown. We investigated the association of the TLL1 rs17047200 polymorphism with liver fibrosis in a cohort of Caucasian patients with MAFLD (n = 728). We also investigated whether TLL1 expression is altered during liver injury in humans, in murine models of fibrosis, and in in-vitro. While TLL1 expression is upregulated in the liver of humans with MAFLD and in mice, the rs17…

Liver CirrhosisMaleSteatosisGene ExpressionDiseasePathology and Laboratory MedicineInbred C57BLGastroenterologyPathogenesisCytopathologyCohort StudiesLiver diseaseMice0302 clinical medicineFibrosisMedicine and Health SciencesLiver injury0303 health sciencesMultidisciplinaryLiver DiseasesQFatty liverRTLL1Single NucleotideMiddle Aged3. Good healthUp-RegulationAdult; Animals; Cohort Studies; Fatty Liver; Female; Genetic Variation; Humans; Liver Cirrhosis; Male; Mice; Mice Inbred C57BL; Middle Aged; Tolloid-Like Metalloproteinases; Up-Regulation; Polymorphism Single NucleotideMedicineLiver Fibrosis030211 gastroenterology & hepatologyFemaleAnatomyResearch ArticleAdultmedicine.medical_specialtyHistologyTolloid-Like MetalloproteinasesSettore MED/12 - GASTROENTEROLOGIAScienceGastroenterology and HepatologyPolymorphism Single Nucleotide03 medical and health sciencesInternal medicinemedicineGeneticsAnimalsHumansPolymorphism030304 developmental biologyNutritionbusiness.industryAdult Animals Cohort Studies Fatty Liver Female Genetic Variation Humans Liver Cirrhosis Male Mice Mice Inbred C57BL Middle Aged Tolloid-Like Metalloproteinases Up-Regulation Polymorphism Single NucleotideBiology and Life SciencesGenetic Variationmedicine.diseaseFibrosisDietFatty LiverMice Inbred C57BLn/aAnatomical PathologySteatosisbusinessDevelopmental Biology
researchProduct

Glucokinase Regulatory Protein Gene Polymorphism Affects Liver Fibrosis in Non-Alcoholic Fatty Liver Disease

2014

BACKGROUND AND AIMS: Variant in glucokinase regulatory protein (GCKR), associated with lipid and glucose traits, has been suggested to affect fatty liver infiltration. We aimed to assess whether GCKR rs780094 C-->T SNP influences the expression of steatosis, lobular inflammation and fibrosis in NAFLD patients, after correction for PNPLA3 genotype. METHODS: In 366 consecutive NAFLD patients (197 from Sicily, and 169 from center/northern Italy), we assessed anthropometric, biochemical and metabolic features; liver biopsy was scored according to Kleiner. PNPLA3 rs738409 C>G and GCKR rs780094 C>T single nucleotide polymorphisms were also assessed. RESULTS: At multivariate logistic regression an…

Liver CirrhosisMalelcsh:MedicineNonalcoholic SteatohepatitisGene FrequencyFibrosisMedicineProspective Studieslcsh:ScienceSicilyliver fibrosisSettore MED/12 - GastroenterologiaMultidisciplinarymedicine.diagnostic_testGlucokinase regulatory proteinbiologyLiver DiseasesFatty liverMiddle Aged3. Good healthItalyLiver biopsyMedicineFemaleResearch ArticleAdultmedicine.medical_specialtyNAFLD GCKRGenotypeGENETICSgene polymorphismSingle-nucleotide polymorphismGastroenterology and HepatologyGLUCKINASESettore MED/08 - Anatomia PatologicaPolymorphism Single NucleotideNAFLDInternal medicineHumansGenetic Predisposition to DiseaseBiologySettore MED/42 - IGIENE GENERALE E APPLICATATriglyceridesPNPLA3Adaptor Proteins Signal TransducingEvolutionary BiologyPopulation Biologybusiness.industrylcsh:RSettore MED/09 - MEDICINA INTERNAComputational BiologyMembrane Proteinsnon-alcoholic fatty liver diseaseLipasePolymorphysmmedicine.diseaseLogistic ModelsEndocrinologyMetabolic DisordersMultivariate AnalysisGenetic Polymorphismbiology.proteinlcsh:QGlucokinase regulatory proteinGene polymorphismSteatosisSteatohepatitisbusinessPopulation GeneticsSteatohepatiti
researchProduct

Thrombophilic genetic factors PAI-1 4G-4G and MTHFR 677TT as risk factors of alcohol, cryptogenic liver cirrhosis and portal vein thrombosis, in a Ca…

2015

The thrombophilic genetic factors (THRGFs), PAI-1 4G-4G, MTHFR 677TT, V Leiden 506Q and Prothrombin 20210A, were studied as risk factors in 865 Caucasian patients with liver cirrhosis, consecutively enrolled from June 2008 to January 2014. A total of 582 HCV, 80 HBV, 94 alcohol, (82 with more than one etiologic factor) and 191 cryptogenic patients with liver cirrhosis had been consecutively enrolled; 243 patients showed portal vein thrombosis (PVT). At least one of the above THRGFs was present in 339/865 patients (39.2%). PAI-1 4G-4G and MTHFR 677TT were the most frequent THRGFs, statistically significant in patients with alcohol, cryptogenic liver cirrhosis, and PVT: respectively 24 and 28…

Liver CirrhosisMalemedicine.medical_specialtyAlcoholic liver diseaseCirrhosisAlcohol DrinkingAlcoholThrombophiliaLogistic regressionGastroenterologyPolymorphism Single NucleotideWhite Peoplechemistry.chemical_compoundRisk FactorsInternal medicineGenotypePlasminogen Activator Inhibitor 1GeneticsmedicineHumansGenetic Predisposition to DiseaseGenetic Association StudiesMethylenetetrahydrofolate Reductase (NADPH2)Venous ThrombosisbiologyPortal VeinGeneral Medicinemedicine.diseasedigestive system diseasesPortal vein thrombosischemistryMethylenetetrahydrofolate reductasebiology.proteinFemaleGene
researchProduct