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2016, Number 2

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Ann Hepatol 2016; 15 (2)

Monozygotic twins with NASH cirrhosis: cumulative effect of multiple single nucleotide polymorphisms?

Grove JI, Austin M, Tibble J, Aithal GP, Verma S

Language: English
References: 21
Page: 277-282
PDF size: 185.72 Kb.


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.


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