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. 2017 Sep 4;58(11):2162–2170. doi: 10.1194/jlr.M079822

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).