Emerging role of genomic analysis in clinical evaluation of lean individuals with NAFLD
Open accessAbstract
Whereas the rising prevalence of nonalcoholic fatty liver disease (NAFLD) is closely related with the global obesity epidemic, up to 10–20% of individuals with NAFLD are lean as defined by a body mass index of < 25 kg/m(2), or < 23 kg/m(2) in Asians. This entity designated as “lean NAFLD” is estimated to affect 8 to 10 million individuals in the United States alone. Here, we review the emerging data on the epidemiology, natural history and prognosis of lean NAFLD and put forward a diagnostic approach that combines detailed clinical phenotyping with genomic analysis. We propose two subtypes of lean NAFLD referred to as type 1: individuals with visceral adiposity and insulin resistance but normal BMI; and type 2: lean individuals with hepatic steatosis secondary to a known or unknown monogenic disease. We envision that incorporation of genomic analysis in the diagnostic algorithm of lean patients with NAFLD will elucidate the contribution of common genetic variants through the calculation of NAFLD polygenic risk score and also characterize the diverse array of rare monogenic diseases that can lead to triglyceride accumulation in the cytoplasm of hepatocytes. Collectively, the integration of a molecular diagnosis in the clinical evaluation of patients with lean NAFLD will provide an accurate diagnosis, with possible targeted therapies and may uncover novel molecular mechanisms with potential broader therapeutic implications.
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Initial data suggest that individuals with strong family history, early disease onset, or lack of accruing factors may benefit from a comprehensive genetic evaluation that may identify strong genetic determinants of SLD with potential implications for treatment and family counselling.
“Initial data suggest that individuals with a) strong family history, b) early disease onset, or c) lack of accruing factors may bene fi t from a comprehensive genetic evaluation ( e.g. whole-exome sequencing or targeted panel sequencing) that may identify strong genetic determinants of SLD with potential implications for treatment and family counselling. 135,208 -211”
From EASL-EASD-EASO Clinical Practice Guidelines on the management of metabolic dysfunction-associated steatotic liver disease (MASLD). (2024) · cites this paper as [208]
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Experimental — accuracy not yet measuredUsing next generation sequencing, a refined diagnosis such as monogenic SLD can currently be reached in up to one-third of individuals.
“Using next generation sequencing (NGS), a re fi ned diagnosis ( e.g. monogenic SLD) can currently be reached in up to onethird of individuals. 208,210,212”
From EASL-EASD-EASO Clinical Practice Guidelines on the management of metabolic dysfunction-associated steatotic liver disease (MASLD). (2024) · cites this paper as [208]
The Introduction and “Rare Genetic Variants and Type 2 Lean NAFLD” section say that genomic analysis can uncover monogenic disorders and provide a more precise diagnosis in selected lean patients with NAFLD. They do not report a diagnostic yield of up to one-third of individuals, and the paper presents broader genomic diagnosis as a proposed approach rather than an established yield across individuals. (LLM, conf=0.86)
Experimental — accuracy not yet measured
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Rimbert, A., Pichelin, M., Lecointe, S., et al. (2016) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2016.04.010 · Cited by 16 · see citing works
Whole exome sequencing for personalized hepatology: Expanding applications in adults and challenges
Valenti, L. V. C., Pelusi, S., & Baselli, G. (2019) · Journal of Hepatology · doi:10.1016/j.jhep.2019.06.008 · Cited by 7 · see citing works
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Cited by
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Rinella, M. E., Neuschwander-Tetri, B. A., Siddiqui, M. S., Abdelmalek, M. F., Caldwell, S., Barb, D., Kleiner, D. E., & Loomba, R. (2023) · Hepatology · doi:10.1097/hep.0000000000000323 · Cited by 2,667 · see citing works
Self-citationTacke, F., Horn, P., Wai-Sun Wong, V., Ratziu, V., Bugianesi, E., Francque, S., Zelber-Sagi, S., Valenti, L., Roden, M., Schick, F., et al. (2024) · Journal of Hepatology · doi:10.1016/j.jhep.2024.04.031 · Cited by 2,210 · see citing works
Natural history and progression of metabolic dysfunction-associated steatotic liver disease
Hagström, H., Shang, Y., Hegmar, H., & Nasr, P. (2024) · The Lancet Gastroenterology & Hepatology · doi:10.1016/s2468-1253(24)00193-6 · Cited by 310 · see citing works
Danpanichkul, P., Suparan, K., Kim, D., & Wijarnpreecha, K. (2024) · Journal of Clinical Medicine · doi:10.3390/jcm13010278 · Cited by 54 · see citing works
Advancing diagnosis and management of liver disease in adults through exome sequencing
Zheng, M., Hakim, A., Konkwo, C., Deaton, A. M., Ward, L. D., Silveira, M. G., Assis, D. N., Liapakis, A., Jaffe, A., Jiang, Z. G., et al. (2023) · EBioMedicine · doi:10.1016/j.ebiom.2023.104747 · Cited by 34 · see citing works
Self-citationHepatocyte CYR61 polarizes profibrotic macrophages to orchestrate NASH fibrosis
Mooring, M., Yeung, G. A., Luukkonen, P., Liu, S., Akbar, M. W., Zhang, G. J., Balogun, O., Yu, X., Mo, R., Nejak-Bowen, K., et al. (2023) · Science Translational Medicine · doi:10.1126/scitranslmed.ade3157 · Cited by 33 · see citing works
Clinical exome sequencing for diagnosing severe cryptogenic liver disease in adults: a case series
Pelusi, S., Ronzoni, L., Malvestiti, F., Bianco, C., Marini, I., D'Ambrosio, R., Giannotta, J. A., Soardo, G., Maggioni, M., Prati, D., et al. (2022) · Liver International · doi:10.1111/liv.15185 · Cited by 18 · see citing works
- Authors
- Vilarinho, S., Ajmera, V., Zheng, M., & Loomba, R.
- Affiliations
- Yale University (US)
- University of California San Diego (US)
- Corresponding author
- Vilarinho, Sílvia
- Loomba, Rohit
- Venue
- Hepatology
- Published
- 2021-09-24
- Volume
- 74
- Issue
- 4
- Pages
- 2241-2250
- ISSN
- 0270-9139 (ISSN-L)
- 1527-3350
- PMC
- PMC8463418
- OpenAlex
- W3180256479
- Cited by
- 85
- References
- 84
- Citations by year
- 2026: 8 · 2025: 13 · 2024: 21 · 2023: 24 · 2022: 18 · 2021: 1
- FWCI
- 2.44
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- Locations
- Hepatology (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- Funders
- National Institutes of Health (UL1TR001442)
- National Institute on Alcohol Abuse and Alcoholism (U01AA029019)
- National Heart, Lung, and Blood Institute (P01HL147835)
- National Institute of Diabetes and Digestive and Kidney Diseases (K08DK113109, R01DK124318, K23DK119460, R01DK121378, R01DK106419, K23DK090303, P30DK120515, U01DK061734)
- National Institute of Environmental Health Sciences (P42ES010337)
- National Center for Advancing Translational Sciences
- Topics
- Health Sciences › Medicine › Epidemiology › Liver Disease Diagnosis and Treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Health Sciences › Medicine › Hepatology › Liver Diseases and Immunity
- Keywords
- lean NAFLD, non-alcoholic fatty liver disease, genetic variants, rare monogenic diseases, hepatic steatosis, visceral fat, insulin resistance, triglyceride accumulation, molecular diagnosis, clinical phenotyping
- MeSH terms
- Genomic Medicine, Humans, Thinness, Genomics, Non-alcoholic Fatty Liver Disease
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
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