Table 1 -.
PAD risk loci discovered in the MVP biobank and replicated in the UK Biobank.
| Chr:Pos | rsid | EA | NEA | EAF | *Overall OR | *Overall 95% CI | *Overall P | Annotation | Gene/Locus** |
|---|---|---|---|---|---|---|---|---|---|
| 1:109817192 | rs7528419 | A | G | 0.772 | 1.07 | 1.05–1.09 | 2.54E-11 | 3’ UTR variant | CELSR2/SORT1 |
| 1:169519049 | rs6025 | T | C | 0.026 | 1.2 | 1.14–1.26 | 1.63E-12 | Missense variant (Factor V Leiden) | F5 |
| 6:160985526 | rs118039278 | A | G | 0.068 | 1.26 | 1.22–1.30 | 1.57E-43 | Intron variant | LPA |
| 6:31065071 | rs3130968 | T | C | 0.144 | 1.07 | 1.05–1.10 | 3.16E-10 | Regulatory region variant | (HLA-B) |
| 7:19049388 | rs2107595 | A | G | 0.187 | 1.08 | 1.05–1.10 | 2.49E-11 | Regulatory region variant | (HDAC9) |
| 7:22786532 | rs4722172 | G | A | 0.202 | 1.08 | 1.05–1.10 | 3.65E-11 | Intergenic variant | (IL6) |
| 8:19819217 | rs322 | A | C | 0.706 | 1.06 | 1.04–1.07 | 2.53E-09 | Intron variant | LPL |
| 9:136149229 | rs505922 | C | T | 0.334 | 1.06 | 1.04–1.07 | 7.10E-11 | Intron variant | ABO |
| 9:22103183 | rs1537372 | T | G | 0.421 | 1.12 | 1.10–1.14 | 4.32E-39 | Intron variant | CDKN2B-AS1/9p21 |
| 10:114758349 | rs7903146 | T | C | 0.293 | 1.06 | 1.04–1.08 | 3.76E-11 | Intron variant | TCF7L2 |
| 11:102710471 | rs566125 | T | C | 0.127 | 1.08 | 1.05–1.11 | 4.37E-09 | Intron variant | MMP3 |
| 11:46342834 | rs7476 | C | A | 0.364 | 1.06 | 1.04–1.08 | 8.33E-10 | 3’ UTR variant | CREB3L1 |
| 12:112871372 | rs11066301 | G | A | 0.413 | 1.06 | 1.04–1.08 | 2.96E-11 | Intron variant | PTPN11 |
| 12:79951566 | rs4842266 | G | A | 0.388 | 1.06 | 1.04–1.08 | 1.01E-09 | Upstream gene variant | RP11–359M6.3 |
| 13:110828891 | rs1975514 | C | T | 0.357 | 1.05 | 1.04–1.07 | 8.32E-10 | Intron variant | COL4A1 |
| 14:70501364 | rs55784307 | A | C | 0.183 | 1.06 | 1.04–1.09 | 2.93E-08 | Downstream gene variant | SMOC1 |
| 15:78915864 | rs10851907 | A | G | 0.41 | 1.06 | 1.05–1.08 | 1.49E-13 | Upstream gene variant | CHRNA3 |
| 17:66089393 | rs62084752 | C | G | 0.216 | 1.07 | 1.05–1.09 | 1.58E-10 | Upstream gene variant | LOC732538 |
| 19:11191729 | rs138294113 | C | T | 0.879 | 1.09 | 1.06–1.11 | 1.20E-10 | Intergenic variant | (LDLR) |
*
Overall OR, 95% CI, and P (two-sided) represent logistic regression statistics following meta-analysis of MVP and UK Biobank (total N = 36,424 PAD cases and 601,044 controls)
**
Genes for variants that are outside the transcript boundary of a protein-coding gene are shown with nearest candidate gene in parentheses [eg, (LDLR)].
Abbreviations: Chr, Chromosome; Pos, Position; rsid, RefSNP identification number; EA, Effect Allele; NEA, Non Effect Allele; EAF, Effect Allele Frequency; OR, Odds Ratio; CI, Confidence Interval