The additive effects of the TM6SF2 E167K and PNPLA3 I148M polymorphisms on lipid metabolism

Oncotarget
Lizhen ChenShi-ying Xuan

Abstract

There is a genetic susceptibility for nonalcoholic fatty liver disease (NAFLD). To examine the role of genetic factors in the disease, a Bayesian analysis was performed to model gene relationships in NAFLD pathogenesis. The Bayesian analysis indicated a potential gene interaction between the TM6SF2 and PNPLA3 genes. Next, to explore the underlying mechanism at the cellular level, we evaluated the additive effects between the TM6SF2 E167K and PNPLA3 I148M polymorphisms on lipid metabolism. Hepa 1-6 cells were transfected with a control vector or with overexpression vectors for TM6SF2/PNPLA3-wild type, TM6SF2-mutant type, PNPLA3-mutant type, or TM6SF2/PNPLA3-mutant type. Commercial kits were used to measure triglyceride and total cholesterol levels in each of the five groups. The mRNA and protein expression levels of sterol regulatory element-binding transcription factor 1c and fatty acid synthase were analyzed using real-time PCR and western blotting. The triglyceride and total cholesterol contents were significantly different among the groups. The triglyceride and total cholesterol contents and the sterol regulatory element-binding transcription factor 1c and fatty acid synthase mRNA and protein expression levels were significa...Continue Reading

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Citations

Sep 16, 2018·Digestive Diseases and Sciences·Kenneth E ShermanUNKNOWN ACTG 5294 BIRTH Study Team
Jan 3, 2019·Current Opinion in Clinical Nutrition and Metabolic Care·Melinda H Spooner, Donald B Jump
Oct 3, 2018·Journal of Clinical and Translational Hepatology·Xiaoyu ZhangShiying Xuan
Oct 1, 2021·Human Molecular Genetics·Janne PottMarkus Scholz
Nov 26, 2021·Cellular and Molecular Gastroenterology and Hepatology·Miriam LongoPaola Dongiovanni

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Methods Mentioned

BETA
transfection
PCR

Software Mentioned

Gel
SPSS
Pro Analyzer
Statistical Package for the Social Sciences ( SPSS

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