Table 1.
SNPs included in the genetic risk scores (GRS14 and GRS19) and their published estimates
| SNP | Chromosome | Gene/locus | SNP location or amino acid change | Alleles |
Published OR | Reference |
|---|---|---|---|---|---|---|
| Risk/reference | ||||||
| rs4341 | 17q23 | ACE | Intergenic | G/C | 1.01 | Schunkert et al.16 |
| rs662799∗ | 11q23 | APOA5 | Promoter Variant | G/A | 1.1 | CARDIoGRAMplusC4D Consortium et al.14 |
| rs1042031 | 2p23-24 | APOB | E4181K | A/G | 1.01 | CARDIoGRAMplusC4D Consortium et al.14 |
| rs429358∗ | 19q13.2 | APOE | C112R | C/T | 1.25 | Bennett et al.17 |
| rs7412∗ | 19q13.2 | APOE | C158R | C/T | 1.06 | Bennett et al.17 |
| rs10757274∗ | 9p21 | CDKN2A/CDKN2B | Intergenic | G/A | 1.23 | CARDIoGRAMplusC4D Consortium et al.14 |
| rs599839∗ | 1p13.3 | CELSR2/PSRC1/SORT1 | Intergenic | A/G | 1.11 | CARDIoGRAMplusC4D Consortium et al.14 |
| rs708272 | 16q21 | CETP | Intronic | C/T | 1.04 | Schunkert et al.16 |
| rs1746048∗ | 10q11.2 | CXCL12 | Intergenic | C/T | 1.07 | CARDIoGRAMplusC4D Consortium et al.14 |
| rs7025486∗ | 9q33 | DAB2IP | Intergenic | A/G | 1.04 | CARDIoGRAMplusC4D Consortium et al.14 |
| rs10455872∗ | 6q26 | LPA | Intergenic | G/A | 1.32 | Schunkert et al.16 |
| rs3798220∗ | 6q26 | LPA | I1891M | C/T | 1.28 | Schunkert et al.16 |
| rs1801177∗ | 8p22 | LPL | D36N | A/G | 1.09 | CARDIoGRAMplusC4D Consortium et al.14 |
| rs328∗ | 8p22 | LPL | S474X | C/G | 1.1 | CARDIoGRAMplusC4D Consortium et al.14 |
| rs17465637∗ | 1q41 | MIA3 | Intergenic | C/A | 1.14 | Schunkert et al.16 |
| rs9818870∗ | 3q23.3 | MRAS | Intergenic | T/C | 1.07 | CARDIoGRAMplusC4D Consortium et al.14 |
| rs1799983 | 7q35-36 | NOS3 | D298E | T/G | 1.0 | CARDIoGRAMplusC4D Consortium et al.14 |
| rs11591147∗ | 1p32.3 | PSCK9 | R46L | G/T | 1.39 | Benn et al.18 |
| rs17228212 | 15q22 | SMAD3 | Intergenic | C/T | 1.01 | CARDIoGRAMplusC4D Consortium et al.14 |
The APOA5 promoter variant has been shown to be functional.19 All SNPs were included in the 19-SNP gene score (GRS19).
OR, odds ratio; SNP, single nucleotide polymorphism.
SNPs that were selected for the 14-SNP-GRS (GRS14) construction.