Table 1.

Human genes associated with NAFLD and NASH identified from exome- and/or genome-wide association studies [[181], [182], [183], [184],206] and links to metabolism.

Gene	Protein name	Principal SNP and variant	NAFLD/NASH risk	Biochemical function	Reference
PNPLA3	Patatin-like phospholipase domain-containing protein 3 or adiponutrin	rs738409; p.I148M	Increased	Lipid droplet protein with triglyceride hydrolase activity and retinyl-palmitate lipase activity; remodeling of hepatic fatty acids	[185]
TM6SF2	Transmembrane 6 superfamily member 2	rs58542926; p.E167K	Increased	Involved in hepatic VLDL secretion and lipoprotein metabolism	[186]
MBOAT7	Membrane-bound O-acyltransferase domain-containing protein 7	rs641738; p.G17E	Increased	Phospholipid remodeling; acyltransferase that catalyzes the acylation of lysophosphatidylinositol with arachidonoyl-CoA	[187]
GCKR	Glucokinase regulatory protein	rs1260326; p.P446L	Increased	Inhibitor of glucokinase activity; regulator of hepatic de novo lipogenesis	[188]
HSD17β13	Hydroxysteroid 17-beta dehydrogenase 13	rs72613567:TA splice variant	Decreased	Hepatic LD protein with retinol dehydrogenase activity; other family members linked to steroid and fatty acid metabolism	[192,193]
MARC1	Mitochondrial amidoxime-reducing component 1	rs2642438; missense p.A165T	Decreased	Molybdenum-containing enzyme capable of reducing N-hydroxylated compounds; associated with the outer mitochondrial membrane	[194]