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Ann Hepatol ; 15(2): 277-82, 2016.
Article in English | MEDLINE | ID: mdl-26845607

ABSTRACT

 Multiple genetic and environmental factors interact to determine an individual's predisposition to non-alcoholic fatty liver disease and its phenotypic characteristics. Association studies have found a number of alleles associated with the development of non-alcoholic steatohepatitis. Our aim was to investigate whether multiple risk-associated alleles may be present in affected monozygotic twins, indicating underlying genetic predisposition to non-alcoholic steatohepatitis. We determined the genotype of 14 candidate gene polymorphisms (at 11 unlinked loci) in a set of monozygotic twins who presented with cirrhosis within 18 months of each other. Genotyping revealed multiple single nucleotide polymorphisms at 9 independent loci in genes PNPLA3, APOC3, GCKR, TRIB1, LYPLAL1, PPP1R3B, COL13A1, and EFCAB4B, previously implicated in contributing to non-alcoholic steatohepatitis pathogenesis. In conclusion, this case series illustrates the potential cumulative effect of multiple polymorphisms in the development and potential progression of a complex trait such as NASH cirrhosis.


Subject(s)
Liver Cirrhosis/genetics , Non-alcoholic Fatty Liver Disease/genetics , Twins, Monozygotic/genetics , Adaptor Proteins, Signal Transducing/genetics , Aged , Apolipoprotein C-III/genetics , Calcium-Binding Proteins/genetics , Collagen Type XIII/genetics , Genotype , Humans , Intracellular Signaling Peptides and Proteins/genetics , Lipase/genetics , Liver Cirrhosis/etiology , Lysophospholipase/genetics , Male , Membrane Proteins/genetics , Non-alcoholic Fatty Liver Disease/complications , Polymorphism, Single Nucleotide , Protein Phosphatase 1/genetics , Protein Serine-Threonine Kinases/antagonists & inhibitors , Protein Serine-Threonine Kinases/genetics
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