0000000000540139

AUTHOR

Benedetta Del Menico

showing 1 related works from this author

The rs2294918 E434K variant modulates patatin-like phospholipase domain-containing 3 expression and liver damage

2016

The patatin-like phosholipase domain-containing 3 (PNPLA3) rs738409 polymorphism (I148M) is a major determinant of hepatic fat and predisposes to the full spectrum of liver damage in nonalcoholic fatty liver disease (NAFLD). The aim of this study was to evaluate whether additional PNPLA3 coding variants contribute to NAFLD susceptibility, first in individuals with contrasting phenotypes (with early-onset NAFLD vs. very low aminotransferases) and then in a large validation cohort. Rare PNPLA3 variants were not detected by sequencing coding regions and intron-exon boundaries either in 142 patients with early-onset NAFLD nor in 100 healthy individuals with alanine aminotransferase22/20 IU/mL. …

AdultMale0301 basic medicinemedicine.medical_specialtyAdolescentPolymorphism Single Nucleotide03 medical and health sciences0302 clinical medicineNon-alcoholic Fatty Liver DiseaseLipid dropletInternal medicineNonalcoholic fatty liver diseasemedicineHumansGenetic Predisposition to DiseaseAlleleChildGeneticsHepatologybiologyMembrane ProteinsAlanine TransaminaseLipaseMiddle AgedHepatologyLipid Metabolismmedicine.diseasedigestive system diseases030104 developmental biologyEndocrinologyHaplotypesLiverAlanine transaminasePatatin-like phospholipaseadolescent; adult; alanine transaminase; case-control studies; child; female; genetic predisposition to disease; haplotypes; humans; lipase; lipid metabolism; liver; male; membrane proteins; middle aged; non-alcoholic fatty liver disease; polymorphism; single nucleotide; hepatologyCase-Control Studiesbiology.proteinFemale030211 gastroenterology & hepatologySteatosisSteatohepatitis
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