Genomic analysis of lean individuals with NAFLD identifies monogenic disorders in a prospective cohort study.

Melanie Zheng,Daniel Q Huang, Chigoziri Konkwo,Saaket Agrawal,Amit V Khera,Rohit Loomba,Sílvia Vilarinho,Veeral Ajmera

JHEP reports : innovation in hepatology（2023）

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摘要

Although most people with non-alcoholic fatty liver disease (NAFLD) are overweight or obese, a subset are lean and may have unique genetic mutations that cause their fatty liver disease. We show that 33% of study participants with NAFLD who were lean harboured unique mutations that cause their fatty liver, and that these mutations had effects beyond the liver. This study demonstrates the value of genetic assessment of NAFLD in lean individuals to identify distinct subtypes of disease.

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关键词

ALT, alanine aminotransferase,APOB, apolipoprotein B,FHBL, familial hypobetalipoproteinaemia,LOFHC, high-confidence predicted loss-of-function,MRE, magnetic resonance elastography,MRI, magnetic resonance imaging,MRI-PDFF, magnetic resonance imaging proton density fat fraction,NAFLD,NAFLD, non-alcoholic fatty liver disease,Non-obese,Rare genetic variants,UCSD, University of California San Diego,WES, whole exome sequencing,Whole exome sequencing

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