Table 2.
Top results for gene-based tests in the discovery and replication samples
Red Blood Cell Traits | T5Count p-value | SKATwu5 p-value | Replication p-value* | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
Trait | Gene | EA+AA+HA | EA | AA | HA | EA+AA+HA | EA | AA | HA | WHI EA Hb | WHI EA Hct |
Hb | EPO | 0.0024 | 9.9E-04 | 0.72 | 0.90 | 1.0E-08 | 2.3E-08 | 0.17 | 0.30 | 0.0001 | 6.4E-05 |
Hb, Hct, MCH, MCHC, MCV | HFE | 4.7E-31 | 0.18 | 0.08 | 0.89 | 2.2E-23 | 0.06 | 0.03 | 0.92 | N/A | N/A |
Hb, Hct, MCH, MCV, RBC | G6PD | 2.6E-19 | 0.02 | 0.32 | 0.07 | 1.6E-19 | 0.08 | 0.25 | 0.07 | N/A | N/A |
MCH | NLRC3 | 0.0028 | 0.38 | 0.44 | 4E-04 | 0.06 | 0.77 | 0.87 | 2.5E-07 | 0.96 | 0.96 |
MCH, MCHC, MCV, RBC | ITFG3 | 1.3E-04 | 0.95 | 9.9E-17 | 0.49 | 5.2E-26 | 0.85 | 1.1E-40 | 8.0E-04 | 0.095 | 0.94 |
MCHC | ANK1 | 5.7E-04 | 2.5E-06 | 0.39 | 0.56 | 1.3E-10 | 1.1E-09 | 0.48 | 0.42 | 0.70 | 0.92 |
MCV | HBS1L | 0.01 | 0.001 | 0.62 | 0.68 | 6.1E-07 | 1.5E-06 | 0.44 | 0.94 | 0.84 | 0.71 |
White Blood Cell Traits | T5Count p-value | SKATwu5 p-value | Replication p-value | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Trait | Gene | EA+AA+HA | EA | AA | HA | EA+AA+HA | EA | AA | HA | WHI EA trait |
Monocytes | BTBD8 | 1.1E-06 | 8.3E-06 | 0.26 | 0.06 | 6.6E-12 | 1.5E-10 | 0.3 | 0.16 | 5.0E-6 |
Monocytes | IL17RA | 0.24 | 0.22 | 0.81 | 0.5 | 6.4E-07 | 1.4E-07 | 0.77 | 0.08 | 0.004 |
Total WBC | IQCJ | 2.7E-05 | 5.6E-04 | 8.0E-05 | 0.16 | 1.8E-07 | 5.1E-04 | 3.5E-06 | 0.39 | 0.67 |
Total WBC, Neutrophils | (DARC locus) | 0.47 | 0.14 | 3.6E-08 | 0.59 | 0.36 | 0.23 | 1.2E-07 | 0.86 | N/A |
Total WBC, Neutrophils | S1PR4 | 4.8E-06 | 4.5E-05 | 0.33 | 0.05 | 1.8E-07 | 5.1E-06 | 0.26 | 0.02 | 3.9E-05 |
Multiple associations in DARC, HFE and G6PD with Hb and Hct which were previously known and also seen in the single variant analyses were not evaluated.