Exploring the role of genetic variations in NAFLD: implications for disease pathogenesis and precision medicine approaches

Table 2 Genetic variants influencing NAFLD pathogenesis via glucose metabolism pathways

Gene	Function	Variant	Mutation type	Variant classification	Population	References
ALDOB	Fructose breaking down	rs1800546	Missense	Pathogenic	European	[91]
C2orf16	–	rs1919127	Missense	Benign	Korean	[92]
ENPP1	Insulin signaling inhibitor	rs1044498	Missense	Benign	Italian and British	[90]
GCK	Insulin release regulation	rs2041547	Intronic variant	Benign	Caucasians	[93]
GCKR	DNL regulation	rs1260326	Missense	Benign	Young Finns	[94]
		rs780094	Intronic variant	Benign	Indian	[95]
		rs149847328	Stop	Uncertain significance	Argentinian	[84]
IRS-1	Insulin signaling	rs1801278	Missense	Likely benign	Pakistan	[87]
IRS-2	Insulin signaling	rs2289046	3′ UTR variant	Benign	Iranian	[88]
PPP1R3B	Hepatic glycogen synthesis promoter	rs4240624	Intronic variant	Benign	American	[96]
PYGO1	Methylated histone binding activity	rs62021874	Intronic variant	Benign	European	[97]

ALDOB aldolase, fructose-bisphosphate B, C2orf16 chromosome 2 open reading frame 16, PPP1R3B protein phosphatase 1 regulatory subunit 3B, PYGO1 pygopus family PHD finger 1

ISSN: 2047-783X