Emerging Role of Genomic Analysis in Clinical Evaluation of Lean Individuals With NAFLD

Vilarinho, Sílvia; Ajmera, Veeral; Zheng, Melanie; Loomba, Rohit

doi:10.1002/hep.32047

Cited by 58 publications

(77 citation statements)

References 86 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Rare, pathogenic variants in liver disease may be key in identifying novel therapeutic targets, unlocking potential avenues toward developing new noninvasive therapies to liver disease. [66] Prediction #5. Genetic medicines for liver disease Routine and widespread application of genomics in both clinical and research settings will create the knowledge and opportunity to develop novel genetic medicines that deliver DNA or mRNA material to correct a specific genetic defect or a pathway abnormality.…”

Section: Prediction #2 Multidisciplinary Hepatology Genome Roundsmentioning

confidence: 99%

See 1 more Smart Citation

Genomic medicine for liver disease

2022

Self Cite

View full text Add to dashboard Cite

Section: Prediction #2 Multidisciplinary Hepatology Genome Roundsmentioning

confidence: 99%

Section: Genetic Basis Of Liver Disease: the Past The Present And The...mentioning

confidence: 99%

Genomic medicine for liver disease

2022

Self Cite

View full text Add to dashboard Cite

“…WES utility in diagnosing patients with chronic liver disease of indeterminate aetiology has been well documented mainly in paediatric case series, reaching a diagnostic rate of 20% or higher, and is now emerging for adult patients too 1,15‐17 . However, additional studies are needed to demonstrate the cost‐effectiveness and the feasibility of WES incorporation into clinical setting 15,18 …”

Section: Discussionmentioning

confidence: 99%

Clinical exome sequencing for diagnosing severe cryptogenic liver disease in adults: A case series

Pelusi

Ronzoni

Malvestiti

et al. 2022

Liver International

View full text Add to dashboard Cite

Liver diseases remain unexplained in up to 30% of adult patients; genetic analysis could help establish the correct diagnosis. In six adult patients with cryptogenic liver disease, we performed whole‐exome sequencing (WES) and evaluated the individual predisposition to progressive fatty liver disease by polygenic risk scores (PRS). In one patient, WES was allowed to diagnose the Hermansky–Pudlak syndrome. In the other two patients, genetic variants in LDLRAP1/MSH6 and ALDOB genes were identified, contributing to explaining the clinical presentation and disease pathogenesis (50% diagnostic uptake). In the other three patients, rare variants with a high likelihood of disrupting protein function in APOB, ATP7B, ABCB4 and ATP8B1 were identified. One patient who developed hepatocellular carcinoma during the follow‐up had a high PRS value. The study supports the role of WES, combined with risk stratification by PRS and accurate clinical assessment in improving the diagnosis and informed management in patients with cryptogenic liver disease, a positive family history or severe fatty liver not fully accounted for by environmental triggers.

show abstract

“…The translation of the so‐called ‘personalized’ or ‘precision’ medicine to the clinic has already begun also in the hepatology field 3–5 . The possibility to diagnose rare genetic diseases by sequencing targeted gene panels, clinical or whole exomes (the coding fraction of the genome), or even the whole genome is especially relevant for congenital or early‐onset conditions.…”

Section: Figurementioning

confidence: 99%