Gene | Function | Variant | Mutation type | Variant classification | Population | References |
---|---|---|---|---|---|---|
PNPLA3 | Triglyceride degradation | rs738409 | Missense | Benign | Spanish | [60] |
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] |
rs2070667 | Intronic variant | [55] | ||||
FATP5 | Fatty acid uptake | rs56225452 | Upstream variant | Benign | Japanese | [73] |