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- W1968304503 abstract "Nonalcoholic fatty liver disease (NAFLD) is the most common chronic liver disease in the world. Whereas insulin resistance and obesity are considered major risk factors for the development and progression of NAFLD, the genetic underpinnings are unclear. Before 2008, candidate gene studies based on prior knowledge of pathophysiology of fatty liver yielded conflicting results. In 2008, Romeo et al. published the first genome wide association study and reported the strongest genetic signal for the presence of fatty liver (PNPLA3, patatin-like phospholipase domain containing 3; rs738409). Since then, two additional genome wide scans were published and identified 9 additional genetic variants. Whereas these results shed light into the understanding of the genetics of NAFLD, most of associations have not been replicated in independent samples and, therefore, remain undetermined the significance of these findings. This review aims to summarize the understanding of genetic epidemiology of NAFLD and highlights the gaps in knowledge. La enfermedad hepática no alcohólica (EHNA) es la enfermedad crónica del hígado más común en el mundo. Si bien se considera que la resistencia a la insulina y la obesidad son factores de riesgo importantes para el desarrollo y progresión de la misma, sus bases genéticas no están claras. Antes de 2008, los estudios sobre genes candidatos basados en conocimientos previos de la fisiopatología de la esteatosis hepática produjeron resultados contradictorios. En 2008, Romeo et al. publicaron el primer estudio de asociación amplia del genoma que presentaba indicios genéticos sólidos de la presencia de esteatosis hepática (PNPLA3, dominio de la fosfolipasa-patatina 3; rs738409). Desde entonces, se han publicado dos estudios adicionales de asociación amplia del genoma en los que se identificaron otras nueve variantes genéticas. Si bien estos resultados arrojan luz sobre la genética de la EHNA, la mayoría de las asociaciones no se han replicado en muestras independientes y, por tanto, la importancia de estos hallazgos continúa siendo incierta. Esta revisión pretende resumir los conocimientos actuales sobre la epidemiología genética de la EHNA y destaca las áreas de incertidumbre." @default.
- W1968304503 created "2016-06-24" @default.
- W1968304503 creator A5030970274 @default.
- W1968304503 date "2012-01-01" @default.
- W1968304503 modified "2023-10-01" @default.
- W1968304503 title "Genetic factors associated with the presence and progression of nonalcoholic fatty liver disease: A narrative review" @default.
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- W1968304503 doi "https://doi.org/10.1016/j.gastrohep.2011.08.002" @default.