Table 1.
Genetic loci with a high impact (h2 > 2%) on the circulating concentrations of lipid species.
| Locus | Candidate causal gene(s) | Explanation | Standard lipids with h2 > 0.2% | Lipid classes of species with h2 > 2% max. h2 (trait) |
|---|---|---|---|---|
| ABCG8 | ABCG5|ABCG8 | ABCG5 and ABCG8 together encode a heterodimeric ATP-dependent transmembrane sterol transporter. | LDL-C, TC | CE 4.5% (CE 20:2; 0) |
| AL161670.1 | SGPP1 | SGPP1 catalyses the degradation of Sphingosine-1-phosphate (S1P) via salvage and recycling of sphingosine into long-chain ceramides. S1P is a bioactive sphingolipid metabolite that regulates diverse biologic processes. | SM 5.6% (SM 32:1; 2) | |
| APOE | APOC1|APOC2|APOC4|APOE | APOE/APOC1/APOC2/APOC4 encode a set of related apolipoproteins involved in lipoprotein particle trafficking. | HDL-C, TG | CE 2.7% (CE 18:2; 0) |
| CERS4 | CERS4 | CERS4 encodes a ceramide synthase which produces ceramides from sphingosine and a long chain acyl CoA, derived from long chain free fatty acids. | LDL-C | SM 6.1% (SM 38:2; 2) |
| FADS2 | FADS1|FADS2 | FADS1 and FADS2 encode a pair of fatty acid desaturases | TG | CE, LPC, LPE, PC, PCO, PE, PEO, PI, TAG 21.8% (PC 18:0; 0_20:4; 0) |
| GLTPD2 | GLTPD2 | GLTPD2 encodes a protein homologous to a ceramide-1-phosphate transfer protein, which acts on ceramide-1-phosphate. Ceramide-1-phospate is involved in Sphingolipid metabolism. | SM 3.7% (SM 40:1; 2) | |
| LINC01722 | SPTLC3 | SPTLC3 encodes a subunit of serine palmitoyltransferase, which catalyses the first step in de novo sphingolipid biosynthesis. | Cer 4.3% (Cer 42:2; 2) | |
| LIPC | LIPC | LIPC encodes hepatic triglyceride lipase which hydrolyses triglycerides. The enzyme plays a key role in regulating levels of HDL. | HDL-C, TC | PCO, PE 15.8% (PE 16:0; 0_20:4; 0) |
| NTAN1 | PDXDC1 | Pyridoxal-dependent decarboxylase domain–containing protein 1. Previous study indicates role in the metabolism of 20:2 and 20:3 fatty acids. | CE 2.5% (CE 20:3; 0) | |
| TMC4 | MBOAT7 | MBOAT7 encodes a lysophosphatidylinositol acyltransferase. | PI 6.5% (PI 18:0; 0_18:2; 0) | |
| ZPR1 | APOA1|APOA4|APOA5|APOC3 | The APOA5/APOA4/APOA1/APOC3 gene cluster encodes a set of related apolipoproteins involved in trafficking of apolipoprotein particles. | HDL-C | DAG, TAG 2.4% (TAG 52:3; 0) |
CE, cholesteryl ester; Cer, ceramide; DAG, diacylglycerol; LPC, lysophosphatidylcholine; LPE, lysophosphatidylethanolamine; PC, phosphatidylcholine; PCO, phosphatidylcholine-ether; PE, phosphatidylethanolamine; PEO, phosphatidylethanolamine-ether; PI, phosphatidylinositol; SM, sphingomyelin; TAG, triacylglycerol.