Table 1.
RBC trait loci with evidence of multiple independent signals among PAGE study participants
| Signal | Chr:pos | Ref/Alt | CAFa | p values | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Multi-ethnic RBC trait-specific | Combined phenotype by race/ethnicitya | |||||||||||||||
| AA | HL | EU | HCT N = 67,885 |
HGB N = 67,870 |
MCH N = 41,317 |
MCHC N = 67,856 |
MCV N = 41,276 |
RBCC N = 41,310 |
RDW N = 33,549 |
AA N = 16,802 |
HL N = 20,697 |
EU N = 29,513 |
||||
| HFE locus | ||||||||||||||||
| rs2032451 | 1 | 6:26092170 | T/G | 0.96 | 0.88 | 0.85 | 4.0E-16 | 1.4E-30 | 8.2E-38 | 1.8E-22 | 2.3E-27 | 0.01 | 3.4E-25 | 2.0E-4 | 2.3E-3 | 1.0E-11 |
| rs1800562 | 2 | 6:26093141 | A/G | 0.98 | 0.98 | 0.93 | 1.4E-4 | 2.4E-5 | 7.7E-30 | 3.1E-3 | 1.2E-3 | 0.78 | 0.05 | 1.0E-5 | 1.0E-10 | 1.0E-11 |
| CCND3 locus | ||||||||||||||||
| rs1410492 | 1 | 6:41907855 | C/G | 0.94 | 0.86 | 0.75 | 0.24 | 0.21 | 1.0E-14 | 0.59 | 3.5E-19 | 1.5E-14 | 1.9E-6 | 0.04 | 1.4E-7 | 1.0E-11 |
| rs11964516 | 2 | 6:41860252 | T/C | 0.15 | 0.16 | 0.17 | 0.04 | 0.01 | 5.6E-13 | 0.12 | 3.0E-12 | 8.8E-4 | 0.03 | 0.02 | 1.6E-6 | 1.0E-11 |
| HBS1L/MYB locus | ||||||||||||||||
| rs35786788 | 1 | 6:135419042 | A/G | 0.92 | 0.85 | 0.74 | 8.8E-20 | 7.0E-11 | 3.0E-66 | 6.2E-07 | 1.1E-59 | 3.3E-60 | 1.6E-16 | 8.0E-7 | 1.0E-11 | 1.0E-11 |
| rs12664956 | 2 | 6:135384188 | T/C | 0.22 | 0.26 | 0.37 | 2.6E-4 | 2.3E-3 | 1.1E-14 | 7.9E-3 | 2.4E-12 | 2.0E-9 | 0.52 | 0.03 | 8.1E-5 | 1.0E-6 |
| CITED2 locus | ||||||||||||||||
| rs590856 | 1 | 6:139844429 | A/G | 0.63 | 0.41 | 0.45 | 1.2E-4 | 2.1E-4 | 7.7E-16 | 0.44 | 1.4E-23 | 2.2E-8 | 0.79 | 1.3E-4 | 1E-11 | 5.1E-7 |
| rs607203 | 2 | 6:139841653 | T/C | 0.79 | 0.93 | 0.96 | 0.02 | 0.04 | 7.9E-11 | 0.12 | 2.1E-13 | 8.8E-5 | 0.13 | 5.3E-3 | 6.2E-6 | 2.9E-7 |
| ABO locus | ||||||||||||||||
| rs2519093 | 1 | 9:136141870 | T/C | 0.89 | 0.85 | 0.80 | 5.7E-16 | 8.7E-18 | 0.32 | 0.05 | 0.85 | 1.1E-7 | 0.09 | 2.1E-4 | 1.1E-8 | 1.0E-8 |
| rs10901252 | 2 | 9:136128000 | C/G | 0.84 | 0.93 | 0.92 | 0.02 | 3.4E-4 | 4.2E-5 | 5.5E-4 | 7.9E-8 | 8.0E-8 | 0.82 | 5.3E-5 | 2.4E-4 | 5.0E-6 |
| HBA locus | ||||||||||||||||
| rs9924561 | 1 | 16:314780 | G/T | 0.91 | 0.99 | – | 1.4E-4 | 3.6E-26 | 5.8E-158 | 9.7E-87 | 2.4E-135 | 8.6E-49 | 4.9E-6 | 1.0E-11 | – | – |
| rs76613236 | 2 | 16:230724 | C/G | 0.98 | 0.995 | – | 0.79 | 0.03 | 6.2E-20 | 2.0E-5 | 3.0E-18 | 5.3E-14 | 2.7E-5 | 1.0E-11 | – | – |
| rs142154093 | 3 | 16:366048 | C/G | 0.98 | 0.99 | – | 0.02 | 4.0E-7 | 1.3E-32 | 2.2E-12 | 4.9E-33 | 6.5E-13 | 2.1E-5 | 1.0E-11 | – | – |
| rs186066503 | 4 | 16:405483 | T/C | – | 0.994 | – | 0.34 | 8.5E-3 | 3.6E-30 | 4.4E-18 | 2.8E-19 | 2.7E-15 | 3.5E-6 | – | 1.0E-11 | – |
| rs530159671 | 5 | 16:250184 | A/G | – | 0.991 | 0.997 | 4.5E-3 | 7.5E-8 | 1.7E-24 | 7.2E-12 | 2.0E-16 | 2.3E-7 | 2.2E-4 | – | 1.0E-11 | – |
| rs8058016 | 6 | 16:228786 | A/C | 0.99 | 0.992 | – | 2.2E-3 | 2.8E-5 | 1.8E-22 | 1.7E-5 | 3.5E-21 | 1.0E-4 | 8.0E-3 | 1E-11 | 2.6E-8 | – |
| rs60616598 | 7 | 16:297264 | A/G | 0.83 | 0.96 | – | 0.04 | 1.0E-5 | 8.1E-23 | 2.2E-11 | 1.8E-16 | 9.7E-9 | 2.3E-9 | 1.0E-11 | 2.8E-9 | – |
| rs145752042 | 8 | 16:267208 | A/G | 0.993 | – | – | 1.0E-4 | 2.4E-7 | 1.2E-18 | 1.2E-4 | 3.1E-19 | 3.0E-4 | 0.04 | 3.2E-10 | – | – |
| rs145546625 | 9 | 16:220583 | T/C | 0.98 | 0.93 | – | 0.19 | 0.08 | 2.5E-14 | 0.17 | 8.8E-15 | 1.4E-5 | 5.9E-3 | 0.22 | 1.0E-11 | – |
| rs115415087 | 10 | 16:205132 | T/C | 0.018 | 0.004 | – | 0.80 | 0.24 | 1.2E-12 | 1.2E-4 | 3.5E-14 | 3.2E-10 | 0.17 | 1.4E-10 | 1.3E-3 | – |
| rs61743947 | 11 | 16:240000 | T/C | 0.995 | – | – | 0.04 | 7.0E-5 | 2.4E-13 | 1.4E-11 | 8.7E-12 | 0.13 | 2.3E-6 | 3.1E-8 | – | – |
| rs60125383 | 12 | 16:176446 | A/T | 0.43 | 0.62 | 0.55 | 0.11 | 0.001 | 3.1E-13 | 2.1E-6 | 4.5E-8 | 1.3E-4 | 0.91 | 6.1E-7 | 0.01 | 2.0E-5 |
| rs55932218 | 13 | 16:221151 | T/C | 0.05 | 0.01 | – | 0.52 | 0.03 | 6.3E-10 | 1.2E-4 | 2.0E-8 | 2.1E-3 | 3.2E-5 | 5.0E-8 | 0.01 | – |
| rs8051004 | 14 | 16:198835 | T/C | 0.10 | 0.05 | 0.02 | 0.81 | 0.04 | 7.2E-11 | 3.2E-8 | 8.1E-8 | 0.06 | 0.04 | 0.01 | 5.1E-7 | 0.04 |
| PLIN4/PLIN5 locus | ||||||||||||||||
| rs919797 | 1 | 19:4498157 | A/G | 0.68 | 0.49 | 0.46 | 5.1E-2 | 5.5E-4 | 1.9E-11 | 1.8E-5 | 6.5E-9 | 4.4E-1 | 8.8E-1 | 0.35 | 9.5E-3 | 1.1E-8 |
| rs12459922 | 2 | 19:4455862 | A/G | 0.12 | 0.25 | 0.26 | 0.003 | 0.003 | 4.3E-8 | 0.34 | 1.4E-9 | 0.09 | 0.11 | 0.17 | 4.9E-5 | 1.0E-4 |
Bold font for combined-phenotype analysis indicates that the index SNP also had the lowest reported p-value for that particular trait. Variants not meeting effective heterozygosity criterion of 35 excluded. AA African American, HL Hispanic/Latino, EU European American. aRestricted to populations with > 1000 participants