Genomic medicine for liver disease

Zheng, Melanie; Allington, Garrett; Vilarinho, Sílvia

doi:10.1002/hep.32364

Cited by 9 publications

(12 citation statements)

References 73 publications

(87 reference statements)

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“…enrolling 124 NAFLD patients found monogenic disorders in nearly 33% of normal weight individuals with NAFLD who did not have visceral adiposity. This result suggests the existence of rare pathogenic variants within the lean NAFLD spectrum, emphasizing the need for genomic analysis and clinical evaluation to investigate the genotype–phenotype interactions in these specific patients 43 …”

Section: Discussionmentioning

confidence: 99%

“…40 This result suggests the existence of rare pathogenic variants within the lean NAFLD spectrum, emphasizing the need for genomic analysis and clinical evaluation to investigate the genotype-phenotype interactions in these specific patients. 43 Recently, the term metabolic dysfunction-associated steatotic liver disease (MASLD) was chosen to replace NAFLD, as part of the steatotic liver disease (SLD) spectrum. 44 A study observed minimal discrepancy between MASLD and NAFLD.…”

Section: At Present the Long-term Prognosis Of Lean Patients Withmentioning

confidence: 99%

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Gastrointestinal cancers in lean individuals with non‐alcoholic fatty liver disease: A systematic review and meta‐analysis

Souza,

Diaz,

Barchetta

et al. 2023

Liver International

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Background & AimsObesity and non‐alcoholic fatty liver disease (NAFLD) are known risk factors for gastrointestinal (GI) cancers. However, GI carcinogenesis in lean NAFLD patients remains unclear. This systematic review and meta‐analysis aims to investigate the association between lean NAFLD and GI cancer risk.MethodsPubMed, Embase and Cochrane Library databases were systematically searched (from inception date to April 2023) for cohort studies assessing GI cancers in lean (body mass index [BMI] < 25 kg/m2 or < 23 kg/m2 in Asians) and non‐lean (BMI ≥25 kg/m2 or ≥ 23 kg/m2 in Asians) NAFLD individuals. Data from eligible studies were extracted, and meta‐analysis was carried out using a random effects model to obtain risk ratios (RRs) with 95% confidence intervals (CIs). Subgroup analyses, meta‐regressions and sensitivity analyses were also performed. This study was registered in PROSPERO (CRD42023420902).ResultsEight studies with 56,745 NAFLD individuals (11% were lean) and 704 cases of incident GI cancers were included. Lean NAFLD was associated with higher risk of hepatic (RR 1.77, 95% CI 1.15–2.73), pancreatic (RR 1.97, 95% CI 1.01–3.86) and colorectal cancers (RR 1.53, 95% CI 1.12–2.09), compared to non‐lean NAFLD. No significant differences were observed for oesophagus, gastric, biliary and small intestine cancers.ConclusionsThis study shows that lean NAFLD patients have an increased risk of liver, pancreatic and colorectal cancers compared to non‐lean NAFLD patients, emphasizing the need to explore tailored cancer prevention strategies for this specific patient group. Further research is required to explore the mechanisms underlying the association between lean NAFLD and specific GI cancers.

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Section: Discussionmentioning

confidence: 99%

Section: At Present the Long-term Prognosis Of Lean Patients Withmentioning

confidence: 99%

Gastrointestinal cancers in lean individuals with non‐alcoholic fatty liver disease: A systematic review and meta‐analysis

Souza,

Diaz,

Barchetta

et al. 2023

Liver International

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“… 5 , 6 , 7 , 8 Addressing this unmet need represents a significant opportunity to advance patient care. 9 , 10 …”

Section: Introductionmentioning

confidence: 99%

Advancing diagnosis and management of liver disease in adults through exome sequencing

et al. 2023

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“…In that context, the FibroScan-aspartate aminotransferase (FAST) score has been developed recently for noninvasive identification of high-risk NASH based on aspartate aminotransferase (AST), liver stiffness measurement (LSM), and a controlled attenuation parameter (CAP) [ 7 ]. In addition, multiomics approaches have been widely investigated for genotype–phenotype correlation, the development of biomarkers, and the identification of therapeutic targets [ 8 ].…”

Section: Introductionmentioning

confidence: 99%

Baseline Tyrosine Level Is Associated with Dynamic Changes in FAST Score in NAFLD Patients under Lifestyle Modification

Kim

Lee

et al. 2023

Metabolites

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Noninvasive risk stratification is a challenging issue in the management of patients with nonalcoholic fatty liver disease (NAFLD). This study aimed to identify multiomics-based predictors of NAFLD progression, as assessed by changes in serial FibroScan-aspartate aminotransferase (FAST) scores during lifestyle modification. A total of 266 patients with available metabolomics and genotyping data were included. The follow-up sub-cohort included patients with paired laboratory and transient elastography results (n = 160). The baseline median FAST score was 0.37. The PNPLA3 rs738409 genotype was significantly associated with a FAST score > 0.35. Circulating metabolomics significantly associated with a FAST score > 0.35 included SM C24:0 (odds ratio [OR] = 0.642; 95% confidence interval [CI], 0.463–0.891), PC ae C40:6 (OR = 0.477; 95% CI, 0.340–0.669), lysoPC a C18:2 (OR = 0.570; 95% CI, 0.417–0.779), and tyrosine (OR = 2.743; 95% CI, 1.875–4.014). A combination of these metabolites and PNPLA3 genotype yielded a c-index = 0.948 for predicting a FAST score > 0.35. In the follow-up sub-cohort (median follow-up = 23.7 months), 47/76 patients (61.8%) with a baseline FAST score > 0.35 had a follow-up FAST score ≤ 0.35. An improved FAST score at follow-up was significantly associated with age, serum alanine aminotransferase, and tyrosine. In conclusion, baseline risk stratification in NAFLD patients may be assisted using a multiomics-based model. Particularly, patients with increased tyrosine may benefit from an earlier switch to pharmacologic approaches.

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Genomic medicine for liver disease

Cited by 9 publications

References 73 publications

Gastrointestinal cancers in lean individuals with non‐alcoholic fatty liver disease: A systematic review and meta‐analysis

Gastrointestinal cancers in lean individuals with non‐alcoholic fatty liver disease: A systematic review and meta‐analysis

Advancing diagnosis and management of liver disease in adults through exome sequencing

Baseline Tyrosine Level Is Associated with Dynamic Changes in FAST Score in NAFLD Patients under Lifestyle Modification

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