Table 1.
Novel RBC (a) and WBC (b) discovered associations in the discovery samples, with replication results
| (a) Trait |
rsID | Chr | Position | Gene | Function | EA+AA+HA beta |
EA+AA+HA p-value |
EA / AA / HA −log10(p) |
EA / AA / HA MAFs |
WHI EA Beta |
WHI EA p-value |
|---|---|---|---|---|---|---|---|---|---|---|---|
| (a) Red Blood Cell traits | |||||||||||
| Hct | rs587404 | 1 | 39,908,506 | MACF1 | p.Ala6577Thr | −0.107 | 2.9×10−7 | 4.6 / 2.5 / 0.3 | 0.298 / 0.462 / 0.349 | 0.009 | 0.79 |
| MCV | rs2229032 | 3 | 142,178,144 | ATR | p.Arg2425Gln | −0.003 | 1.1×10−7 | 6.4 / 0.1 / 1.5 | 0.160 / 0.077 / 0.110 | 0.000 | 0.98 |
| Hct | rs13146355 | 4 | 77,412,140 | SHROOM3 | intronic | 0.105 | 4.1×10−7 | 4.2 / 2.0 / 2.6 | 0.444 / 0.150 / 0.317 | 0.144 | 4.7×10−6 |
| MCV | rs853678 | 6 | 28,297,313 | ZSCAN31 | p.Thr50Ser | −0.003 | 8.1×10−8 | 8.3 / 0.6 / 0.3 | 0.134 / 0.351 / 0.220 | 0.001 | 0.81 |
| MCH | rs4909444 | 8 | 139,701,209 | COL22A1 | p.Ala938Asp | −0.003 | 2.7×10−7 | 5.0 / 2.0 / 0.9 | 0.328 / 0.265 / 0.310 | 0.002 | 0.22 |
| RBC | rs1535 | 11 | 61,597,972 | FADS2 | intronic | 0.020 | 3.1×10−9 | 7.3 / 0.8 / 1.3 | 0.344 / 0.149 / 0.381 | 0.028 | 0.02 |
| MCV | rs2748427 | 17 | 76,121,864 | TMC6 | p.Trp125Arg | −0.002 | 1.6×10−5 | 6.9 / 2.0 / 1.4 | 0.210 / 0.468 / 0.291 | -0.001 | 0.96 |
| Hb | rs4805834 | 19 | 33,453,659 | CEP89 | intronic | −0.059 | 2.2×10−8 | 6.1 / 2.6 / 0.7 | 0.145 / 0.025 / 0.080 | −0.052 | 4.0×10−4 |
| RDW | rs7412 | 19 | 45,412,079 | APOE | p.Arg202Cys | 0.009 | 5.6×10−8 | 6.1 / 1.7 / - | 0.068 / 0.111 / - | 0.012 | 0.003 |
| (b) White Blood Cell traits | |||||||||||
| Monocytes | rs34856868 | 1 | 92,554,283 | BTBD8 | p.Val60Ile | 0.079 | 1.2×10−12 | 10.7 / 1.0 / 1.0 | 0.029 / 0.005 / 0.015 | 0.118 | 1.2×10−5 |
| Total WBC | rs147630966 | 3 | 158,970,516 | IQCJ | p.Asn25Lys | 0.082 | 1.8×10−7 | 3.4 / 5.5 / 0.1 | 0.0004 / 0.013 / 0.006 | 0.122 | 0.35 |
| Total WBC | rs116085696 | 4 | 119,745,814 | SEC24D | p.Gly70Val | 0.095 | 2.4×10−7 | - / 6.7 / 0.2 | - / 0.011 / 0.003 | – | – |
| Eosinophils | rs12521868 | 5 | 131,784,393 | IRF1 | intronic | −0.008 | 7.5×10−8 | 8.3 / 1.0 / 1.2 | 0.415 / 0.090 / 0.280 | −0.009 | 0.03 |
| Total WBC | rs7776054 | 6 | 135,418,916 | MYB/HBS1L | intergenic | −0.010 | 6.1×10−7 | 7.1 / 0.1 / 0.2 | 0.262 / 0.217 / 0.195 | −0.011 | 1.0×10−4 |
| Eosinophils | rs1342326 | 9 | 6,190,076 | IL33 | intergenic | 0.009 | 1.5×10−7 | 8.2 / 0.4 / 0.3 | 0.164 / 0.349 / 0.206 | −0.009 | 0.10 |
| Lymphocytes | rs3744064 | 17 | 75,211,208 | SEC14L1 | UTR3 | 0.004 | 0.49 | 0.3 / 0.3 / 8.1 | 0.030 / 0.006 / 0.026 | −0.024 | 0.44 |
| Total WBC | rs3746072 | 19 | 3,179,884 | S1PR4 | p.Arg365Leu | −0.062 | 1.5×10−7 | 5.4 / 0.6 / 1.7 | 0.006 / 0.003 / 0.010 | −0.056 | 0.001 |
| Monocytes | rs34436714 | 19 | 54,327,313 | NLRP12 | p.Gly39Val | −0.022 | 1.0×10−7 | 5.9 / 0.5 / 1.7 | 0.217 / 0.370 / 0.263 | −0.026 | 0.02 |
| Monocytes | rs149771513 | 22 | 17,588,658 | IL17RA | p.Asp363Asn | 0.284 | 3.2×10−8 | 6.7 / 1.4 / 0.3 | 0.001 / 0.0002 / 0.0002 | −0.073 | 0.82 |
Bold indicates a significant association in either the discovery (p<5×10−7) or replication samples (p<0.003); Italics indicates nominal significance (p<0.05)