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

Grove, Jane I.; Austin, Mark; Tibble, Jeremy; Aithal, Guruprasad P.; Verma, Sumita

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.

Citation

Grove, J. I., Austin, M., Tibble, J., Aithal, G. P., & Verma, S. (2016). Monozygotic twins with NASH cirrhosis: cumulative effect of multiple single nucleotide polymorphisms?. Annals of Hepatology, 15(2), 277-282

• Journal Article Type: Article
• Acceptance Date: Jul 12, 2015
• Online Publication Date: Mar 1, 2016
• Publication Date: Mar 1, 2016
• Deposit Date: Jun 17, 2018
• Electronic ISSN: 1665-2681
• Peer Reviewed: Peer Reviewed
• Volume: 15
• Issue: 2
• Pages: 277-282
• Public URL: https://www.ncbi.nlm.nih.gov/pubmed/26845607
• Publisher URL: http://annalsofhepatology.com/vista?accion=viewArticle&idart=1306