Genetic and metabolic aspects of non-alcoholic fatty liver disease (NAFLD) pathogenicity

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Date

2023

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Springer

Abstract

BACKGROUND: Non-alcoholic fatty liver disease (NAFLD) is the most common chronic liver disease showing a risingprevalence globally. Genetic predisposition plays a key role in the development and progression of the disease pathogenicity. MAIN BODY: This paper summarizes genetic associations based on their influence on several metabolic aspects such as lipid metabolism, glucose metabolism, hepatic iron accumulation and cholesterol metabolism toward the NAFLD pathogenicity. Furthermore, we present variations in some epigenetic characters and the microRNA profile with regard to NAFLD. CONCLUSION: As reported in many studies, the PNPLA3 rs738409 variant seems to be significantly associated with NAFLD susceptibility. Other gene variants like TM6SF2 rs58542926, MBOAT7 rs641738 and GCKR variants also appear to be more prevalent among NAFLD patients. We believe these genetic variants may provide insights into new trends in developing noninvasive biomarkers and identify their suitability in clinical practice in the future.

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Keywords

Non-alcoholic fatty liver disease, Single nucleotide polymorphisms, PNPLA3, TM6SF2, MBOAT7, GCKR

Citation

Egyptian Journal of Medical Human Genetics.2023;24:53

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