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

Table 1 Genetic variants influencing NAFLD pathogenesis via lipid metabolism pathways

Gene	Function	Variant	Mutation type	Variant classification	Population	References
PNPLA3	Triglyceride degradation	rs738409	Missense	Benign	Spanish	[60]
		rs738409	Missense	Benign	Brazilian	[23]
		rs139051	Intronic variant	Benign	Han Chinese	[30]
		rs2294918	Missense	Benign	Italian	[29]
		rs6006460	Missense	Likely benign	American	[31]
		rs12483959	Intronic variant	Benign	Korean	[61]
		rs2281135	Intronic variant	Benign	Mexican-American	[62]
					Korean	[61]
					Indian	[63]
MBOAT7	Remodeling of phosphatidylinositol	rs641738	Missense	Uncertain Significance	Italian children	[64]
HSD17B13	Retinol dehydrogenase activity	rs72613567	Donor splice	Benign	Non-Hispanic whites	[36]
LPIN1	Lipogenesis	rs13412852	Intronic variant	Benign	Italian	[65]
ADRB3	Induction of lipolysis	rs4994	Missense	Benign	Japanese	[66]
LYPLAL1	Triglyceride lipase in adipose tissue	rs12137855	Intronic variant	Benign	American	[67]
PPARGC1A	Fatty acid oxidation	rs8192678	Missense	Benign	Han Chinese	[68]
TM6SF2	VLDL secretion	rs58542926	Stop	Benign	Western Chinese	[46]
CETP	Cholesterol metabolism	rs12447924 rs12597002	Nonsense	Benign	Australian	[69]
PEMT	Phosphatidylcholine biosynthesis	rs7946	Missense	Benign	Indian	[70]
MTTP	VLDL secretion	rs1800591	Intronic variant	Benign	Mexican	[71]
APOC3	Inhibitor of lipoprotein lipase activity and triglycerides clearance	rs2854116	Upstream variant	Benign	Chinese	[72]
APOC3		rs2070667	Intronic variant	Benign	Chinese	[55]
FATP5	Fatty acid uptake	rs56225452	Upstream variant	Benign	Japanese	[73]

LPIN1 lipin 1, ADRB3 adrenoceptor beta 3, LYPLAL1 lysophospholipase like 1, PPARGC1A PPARG coactivator 1 alpha, CETP cholesteryl ester transfer protein, PEMT phosphatidylethanolamine N-methyltransferase

ISSN: 2047-783X