Combination of heterozygous APOB gene mutation with PNPLA3 and TM6SF2 variants promotes steatotic liver disease, cirrhosis and HCC development

Yasmina Chouik; Mathilde Di Filippo; Sylvie Radenne; Jérôme Dumortier; Philippe Moulin; Massimo Levrero

doi:10.1111/liv.15837

Combination of heterozygous APOB gene mutation with PNPLA3 and TM6SF2 variants promotes steatotic liver disease, cirrhosis and HCC development

Liver Int. 2024 Jun;44(6):1474-1477. doi: 10.1111/liv.15837. Epub 2024 Feb 29.

Authors

Yasmina Chouik^{1

2

3

4}, Mathilde Di Filippo^{5

6}, Sylvie Radenne⁴, Jérôme Dumortier^{1

2

3

7}, Philippe Moulin^{6

8}, Massimo Levrero^{1

2

3

4

9

10}

Affiliations

¹ INSERM U1052, CNRS UMR_5286, Cancer Research Center of Lyon, Lyon, France.
² University of Lyon, Université Claude-Bernard 1, UMR_S1052, Lyon, France.
³ Institute of Hepatology Lyon, Lyon, France.
⁴ Department of Hepatology, Hôpital Croix-Rousse, Hospices Civils de Lyon, Lyon, France.
⁵ Department of Biochemistry and Molecular Biology, Hospices Civils de Lyon, Lyon, France.
⁶ CarMeN Laboratory, UMR INSERM U1060/INRAE U1397, Claude Bernard Lyon1 University, Bron, France.
⁷ Department of Hepatology, Hospices Civils de Lyon, Hôpital Universitaire Edouard Herriot, Lyon, France.
⁸ Department of Endocrinology, Metabolic Disease, Diabetes and Nutrition, Hospices Civils de Lyon, Lyon, France.
⁹ Department of Medicine SCIAC, University of Rome La Sapienza, Rome, Italy.
¹⁰ The Italian Institute of Technology (IIT) Center for Life Nanosciences (CLNS), University of Rome La Sapienza, Rome, Italy.

PMID: 38421084
DOI: 10.1111/liv.15837

No abstract available

Keywords: Apolipoprotein B; FHBL; FHBL‐SD2; MASLD; NAFLD; NASH; SNP; familial hypobetalipoproteinemia.

Publication types

Letter

MeSH terms

Acyltransferases
Apolipoprotein B-100 / genetics
Carcinoma, Hepatocellular* / genetics
Fatty Liver / genetics
Female
Heterozygote*
Humans
Lipase* / genetics
Liver Cirrhosis* / genetics
Liver Neoplasms* / genetics
Male
Membrane Proteins* / genetics
Middle Aged
Mutation*
Phospholipases A2, Calcium-Independent

Substances

PNPLA3 protein, human
TM6SF2 protein, human
APOB protein, human