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

Grove, Jane I, Austin, Mark, Tibble, Jeremy, Aithal, Guruprasad P and Verma, Sumita (2016) Monozygotic twins with NASH cirrhosis: cumulative effect of multiple single nucleotide polymorphisms? Annals of Hepatology, 15 (2). pp. 277-282. ISSN 1665-2681

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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 with 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.

Item Type: Article
Schools and Departments: Brighton and Sussex Medical School > Clinical and Experimental Medicine
Subjects: R Medicine > R Medicine (General) > R852 Research. Experimentation
Depositing User: Sumita Verma
Date Deposited: 03 Jan 2017 12:08
Last Modified: 07 Mar 2017 03:39
URI: http://sro.sussex.ac.uk/id/eprint/65993

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