Implications of the evolving knowledge of the genetic architecture of MASLD

Article Gastroenterology & Hepatology

A multi-society Delphi consensus statement on new fatty liver disease nomenclature

Mary E. Rinella et al.

JOURNAL OF HEPATOLOGY (2023)

Article Genetics & Heredity

Genome-wide association meta-analysis identifies 17 loci associated with nonalcoholic fatty liver disease

Yanhua Chen et al.

Summary: This study conducted a genome-wide association analysis to identify risk loci for nonalcoholic fatty liver disease (NAFLD) and found possible biological pathways contributing to the development of the disease. The study also discovered at least seven subtypes of NAFLD and revealed that individuals with higher genetic risk are at a greater risk of developing NAFLD, cirrhosis, and hepatocellular carcinoma.

NATURE GENETICS (2023)

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Article Biochemistry & Molecular Biology

Interaction between estrogen receptor-a and PNPLA3 p.I148M variant drives fatty liver disease susceptibility in women

Alessandro Cherubini et al.

Summary: Fatty liver disease caused by metabolic dysfunction is a leading liver disease, and women may be more susceptible to developing rapidly progressive fatty liver disease during menopause. A study has found that there is a specific interaction between female sex and the PNPLA3 gene variant in determining fatty liver disease in women.

NATURE MEDICINE (2023)

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Article Genetics & Heredity

A multiancestry genome-wide association study of unexplained chronic ALT elevation as a proxy for nonalcoholic fatty liver disease with histological and radiological validation

Marijana Vujkovic et al.

Summary: Through a multi-ancestry genome-wide association study, we identified multiple genetic loci associated with NAFLD in the Million Veteran Program, some of which are also related to metabolic and/or inflammatory traits. Integrating cALT, histology, and imaging provided new insights into genetic susceptibility to NAFLD.

NATURE GENETICS (2022)

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Article Genetics & Heredity

Multiomics study of nonalcoholic fatty liver disease

Gardar Sveinbjornsson et al.

Summary: This study identified genetic variants, genes, and proteins associated with nonalcoholic fatty liver, cirrhosis, and hepatocellular carcinoma. The findings provide insights into the development of noninvasive evaluation and new therapeutic options for NAFL. Proteomics can also distinguish between NAFL and cirrhosis.

NATURE GENETICS (2022)

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Article Gastroenterology & Hepatology

rs641738C>T near MBOAT7 is associated with liver fat, ALT and fibrosis in NAFLD: A meta-analysis

Kevin Teo et al.

Summary: The genetic variant rs641738C>T near MBOAT7 is validated as a risk factor for the presence and severity of non-alcoholic fatty liver disease (NAFLD) in individuals of European descent. This variant is associated with higher liver fat, NAFLD diagnosis, and advanced fibrosis in Caucasian adults.

JOURNAL OF HEPATOLOGY (2021)

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Article Gastroenterology & Hepatology

Non-invasive stratification of hepatocellular carcinoma risk in non-alcoholic fatty liver using polygenic risk scores

Cristiana Bianco et al.

Summary: This study utilized polygenic risk scores (PRS) to investigate the causal relationship between hepatic fat and HCC, improving the accuracy of HCC detection and helping to stratify HCC risk in individuals with dysmetabolism. The PRS showed robust predictions for HCC in both high-risk individuals and the general population.

JOURNAL OF HEPATOLOGY (2021)

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Review Gastroenterology & Hepatology