학술논문
Combination of heterozygous APOB gene mutation with PNPLA3 and TM6SF2 variants promotes steatotic liver disease, cirrhosis and HCC development.
Document Type
Article
Author
Source
Subject
*APOLIPOPROTEIN B
*FATTY liver
*LIVER diseases
*GENETIC mutation
*DYSLIPIDEMIA
*CIRRHOSIS of the liver
*MEDICAL ethics
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Language
ISSN
1478-3223
Abstract
This article discusses the role of genetic factors in the development of liver diseases, specifically steatotic liver disease, cirrhosis, and hepatocellular carcinoma (HCC). The study focuses on a case study of a patient with familial hypobetalipoproteinemia (FHBL), a genetic disorder characterized by low levels of LDL-cholesterol and ApoB. The patient had a heterozygous mutation in the APOB gene, as well as common genetic variants in the PNPLA3 and TM6SF2 genes. These genetic factors contributed to the development of liver disease, which was successfully treated with a liver transplant. The study emphasizes the importance of genetic analysis in understanding and treating liver diseases. [Extracted from the article]