Are we ready for genetic testing in metabolic dysfunction‐associated steatotic liver disease?

医学 基因检测 疾病 脂肪肝 肝病 肝功能不全 生物信息学 重症监护医学 内科学 生物
作者
Adele Tulone,Grazia Pennisi,Carlo Ciccioli,Giuseppe Infantino,Claudia La Mantia,Roberto Cannella,Fabio Mercurio,Salvatore Petta
出处
期刊:United European gastroenterology journal [Wiley]
被引量:1
标识
DOI:10.1002/ueg2.12556
摘要

Abstract Metabolic dysfunction‐associated steatotic liver disease (MASLD), with its steadily increasing prevalence, represents now a major problem in public health. A proper referral could benefit from tools allowing more precise risk stratification. To this end, in recent decades, several genetic variants that may help predict and refine the risk of development and progression of MASLD have been investigated. In this review, we aim to discuss the role genetics in MASLD plays in everyday clinical practice. We performed a comprehensive literature search of PubMed for relevant publications. Available evidence highlights the emergence of genetic‐based noninvasive algorithms for diagnosing fatty liver, metabolic dysfunction‐associated steatohepatitis, fibrosis progression and occurrence of liver‐related outcomes including hepatocellular carcinoma. Nevertheless, their accuracy is not optimal and application in everyday clinical practice remains challenging. Furthermore, susceptible genetic markers have recently become subjects of great scientific interest as therapeutic targets in precision medicine. In conclusion, decisional algorithms based on genetic testing in MASLD to facilitate the clinician decisions on management and treatment are under growing investigation and could benefit from artificial intelligence methodology.
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