Patient 2, who harboured the rare variant in APOB, was homozygous for the risk variant in PNPLA3 and heterozygous for the variant in GCKR and MBOAT7. The six lean patients with NAFLD analysed in this cohort were wild type for the risk allele in TM6SF2 or the protective variants in HSD17B13 (Table S6). This evidence concerns the gene PNPLA3 and metabolic dysfunction-associated steatotic liver disease.