| Revue: | Annals of hepatology |
| Base de datos: | PERIÓDICA |
| Número de sistema: | 000409090 |
| ISSN: | 1665-2681 |
| Autores: | Grove, Jane I1 Austin, Mark2 Tibble, Jeremy2 Aithal, Guruprasad P1 Verma, Sumita2 |
| Instituciones: | 1Nottingham University Hospitals, Nottingham Digestive Diseases Biomedical Research Unit, Nottingham, Nottinghamshire. Reino Unido 2Brighton and Sussex University Hospital, Department of Gastroenterology and Hepatology, Brighton, East Sussex. Reino Unido |
| Año: | 2016 |
| Volumen: | 15 |
| Número: | 2 |
| Paginación: | 277-282 |
| País: | México |
| Idioma: | Inglés |
| Tipo de documento: | Artículo |
| Enfoque: | Caso clínico, descriptivo |
| Resumen en inglés | 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 |
| Disciplinas: | Medicina |
| Palabras clave: | Gastroenterología, Genética, Hígado graso no alcohólico, Predisposición genética, Polimorfismos de nucleótido único (SNPs) |
| Keyword: | Medicine, Gastroenterology, Genetics, Non alcoholic fatty liver, Genetic predisposition, Single nucleotide polymorphism |
| Texte intégral: | Texto completo (Ver PDF) |
