TABLE 2.
Nine SNPs used in polygenic trait score
Chr:Position | rsID | Gene | High HDL-C-Associated Allele | Effect Size | Relation with HDL-C or HDL Metabolism |
1:182199750 | rs1689800 | ZNF648 | A | 0.034 | Mechanism underlying association is poorly characterized. |
1:230159944 | rs4846914 | GALNT2 | A | 0.048 | Recently confirmed as an important determinant of HDL-C (43) |
9:104902020 | rs1883025 | ABCA1 | C | 0.07 | Causative gene for Tangier disease (6) |
12:109562388 | rs7134594 | MVK | T | 0.035 | MVK encodes mevalonate kinase, which is involved in biosynthesis of cholesterol and isoprenoids (44), although the closely linked MMAB gene encoding cob(I)alamin adenosyltransferase may actually underlie the HDL-C association at this locus (45). |
12:124777047 | rs838880 | SCARB1 | C | 0.048 | Causative gene for scavenger receptor B1 deficiency |
15:58391167 | rs1532085 | LIPC | A | 0.107 | Causative gene for hepatic lipase deficiency |
16:56959412 | rs3764261 | CETP | A | 0.241 | Causative gene for cholesteryl ester transfer protein deficiency |
16:81501185 | rs2925979 | CMIP | C | 0.035 | Mechanism underlying association is poorly characterized. |
19:8368312 | rs7255436 | ANGPTL4 | A | 0.032 | Regulates LPL with reciprocal effects on triglycerides and HDL-C (46) |
SNP information from this table has been extracted from (42). Chr, chromosome; rsID, reference SNP cluster ID (accession number).