Metabolomics and lipidomics in NAFLD: biomarkers and non-invasive diagnostic tests

Masoodi, Mojgan; Gastaldelli, Amalia; Hyötyläinen, Tuulia; Arretxe, Enara; Alonso, Cristina; Gaggini, Melania; Brosnan, Julia; Anstee, Quentin M.; Millet, Óscar; Ortiz, Pablo; Mato, José M.; Dufour, Jean‐François; Orešič, Matej

doi:10.1038/s41575-021-00502-9

Cited by 270 publications

(233 citation statements)

References 181 publications

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“…Hepatic steatosis is characterised by a disruption in the balance between TG production and accumulation in the liver; therefore, lipidomics is recognised as a major subfield of metabolomics, and it refers to the comprehensive investigation of cellular lipids [ 282 ]. Lipidomics studies have offered a considerable benefit in improving the understanding of metabolic pathways that contribute to NAFLD and NASH [ 282 ].…”

Section: Omics-related Diagnostic Research Technologiesmentioning

confidence: 99%

“…The primary structural component of complex lipids is fatty acids, which are introduced through diet (15%), released during lipolysis by the adipose tissue (60%) or synthesised in the liver through de novo lipogenesis (25%) [ 282 , 283 ]. Studies have shown that patients with NAFLD demonstrate the altered fatty acid composition of lipids with an increase in total saturated fatty acids (SFA) [ 283 , 284 ].…”

Section: Omics-related Diagnostic Research Technologiesmentioning

confidence: 99%

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Diagnostic Modalities of Non-Alcoholic Fatty Liver Disease: From Biochemical Biomarkers to Multi-Omics Non-Invasive Approaches

et al. 2022

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Non-Alcoholic Fatty Liver Disease (NAFLD) is currently the most common cause of chronic liver disease worldwide, and its prevalence is increasing globally. NAFLD is a multifaceted disorder, and its spectrum includes steatosis to steatohepatitis, which may evolve to advanced fibrosis and cirrhosis. In addition, the presence of NAFLD is independently associated with a higher cardiometabolic risk and increased mortality rates. Considering that the vast majority of individuals with NAFLD are mainly asymptomatic, early diagnosis of non-alcoholic steatohepatitis (NASH) and accurate staging of fibrosis risk is crucial for better stratification, monitoring and targeted management of patients at risk. To date, liver biopsy remains the gold standard procedure for the diagnosis of NASH and staging of NAFLD. However, due to its invasive nature, research on non-invasive tests is rapidly increasing with significant advances having been achieved during the last decades in the diagnostic field. New promising non-invasive biomarkers and techniques have been developed, evaluated and assessed, including biochemical markers, imaging modalities and the most recent multi-omics approaches. Our article provides a comprehensive review of the currently available and emerging non-invasive diagnostic tools used in assessing NAFLD, also highlighting the importance of accurate and validated diagnostic tools.

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Section: Omics-related Diagnostic Research Technologiesmentioning

confidence: 99%

Section: Omics-related Diagnostic Research Technologiesmentioning

confidence: 99%

Diagnostic Modalities of Non-Alcoholic Fatty Liver Disease: From Biochemical Biomarkers to Multi-Omics Non-Invasive Approaches

et al. 2022

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“…Another potential area for developing a diagnostic tool for NAFLD and NASH is the metabolomics of NAFLD. Metabolomics is a study of all metabolites, the small molecules, intermediates, and products of cell metabolism [ 211 , 212 ]. A recent systematic review of 11 studies showed that half of these studies reported higher levels of circulating branched-chain amino acids (BCAAs), including leucine, isoleucine, and valine in NAFLD [ 211 ].…”

Section: Alternative Diagnostic Toolsmentioning

confidence: 99%

Nonalcoholic Fatty Liver Disease (NAFLD): Pathogenesis and Noninvasive Diagnosis

et al. 2021

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The global prevalence of nonalcoholic fatty liver disease (NAFLD) or metabolic associated fatty liver disease (MAFLD), as it is now known, has gradually increased. NAFLD is a disease with a spectrum of stages ranging from simple fatty liver (steatosis) to a severe form of steatosis, nonalcoholic steatohepatitis (NASH), which could progress to irreversible liver injury (fibrosis) and organ failure, and in some cases hepatocellular carcinoma (HCC). Although a liver biopsy remains the gold standard for accurate detection of this condition, it is unsuitable for clinical screening due to a higher risk of death. There is thus an increased need to find alternative techniques or tools for accurate diagnosis. Early detection for NASH matters for patients because NASH is the marker for severe disease progression. This review summarizes the current noninvasive tools for NAFLD diagnosis and their performance. We also discussed potential and newer alternative tools for diagnosing NAFLD.

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“…Cardiovascular diseases are the leading cause of death in patients with NAFLD 2 . This condition is also associated with other comorbidities such as type 2 diabetes, chronic kidney disease and gastrointestinal neoplasms [3][4][5] .…”

Section: Introductionmentioning

confidence: 99%

Mendelian randomization analysis identifies blood tyrosine levels as a biomarker of non-alcoholic fatty liver disease

Gobeil

Maltais‐Payette

Taba

et al. 2021

Preprint

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Non-alcoholic fatty liver disease (NAFLD) is a complex cardiometabolic disease associated with premature mortality. The diagnosis of NAFLD is challenging and the identification of biomarkers causally influenced by NAFLD may be clinically useful. We aimed at identifying blood metabolites causally impacted by NAFLD using two-sample Mendelian randomization (MR) with validation in a population-based biobank and a cohort of patients undergoing bariatric surgery. Our instrument for genetically-predicted NAFLD (the study exposure) included all independent genetic variants (n=7 SNPs) from a recent genome-wide association study on NAFLD. The study outcomes included 123 blood lipids, lipoproteins and metabolites measured in 24,925 individuals from 10 European cohorts. After correction for multiple testing, we identified a positive effect of NAFLD on plasma tyrosine levels but not on other metabolites. The association between NAFLD and tyrosine levels was consistent across MR methods and robust to outliers and pleiotropy. In observational analyses performed in the Estonian Biobank (10,809 individuals including 359 patients with NAFLD), after multivariable adjustment, tyrosine levels were positively associated with the presence of NAFLD (odds ratio per 1-SD increment = 1.23 (95% confidence interval = 1.12-1.36, p = 2.19e-05). In a sample of 138 patients undergoing bariatric surgery, compared to patients without NAFLD, blood tyrosine levels were higher in those with NAFLD, but were comparable among patients with or without non-alcoholic steatohepatitis. This analysis revealed a potentially causal effect of NAFLD on blood tyrosine levels, suggesting that blood tyrosine levels may represent a new biomarker of NAFLD.Graphical abstract

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Metabolomics and lipidomics in NAFLD: biomarkers and non-invasive diagnostic tests

Cited by 270 publications

References 181 publications

Diagnostic Modalities of Non-Alcoholic Fatty Liver Disease: From Biochemical Biomarkers to Multi-Omics Non-Invasive Approaches

Diagnostic Modalities of Non-Alcoholic Fatty Liver Disease: From Biochemical Biomarkers to Multi-Omics Non-Invasive Approaches

Nonalcoholic Fatty Liver Disease (NAFLD): Pathogenesis and Noninvasive Diagnosis

Mendelian randomization analysis identifies blood tyrosine levels as a biomarker of non-alcoholic fatty liver disease

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