Table 4. Assessment in African-Americans of loci previously associated with leukocyte traits in Caucasians and/or Japanese.
| European or Japanese Discovery Sample | COGENT African Americans | |||||||||
| Trait | Discovery Population [Ref.] | Chromosome (Position) | Locus | Lead SNP | Sample size | effect allele (frequency) | BETA ± SE (P-value) | Sample size | effect allele (frequency) | BETA ± SE (P-value) |
| WBC | European [12] | 17 (35,364,215) | GSDMA-ORMDL3-CSF3 | rs17609240 | 13,943 | T (0.26) | −0.019±0.003 (9×10−9) | 14628 | T (0.23) | −0.004±0.005 (0.35) |
| WBC | Japanese [13] | 17 (35,397,074) | GSDMA-ORMDL3-CSF3 | rs4065321 | 14,677 | T (0.32) | −0.094±0.012 (3×10−14) | 16388 | T (0.63) | −0.014±0.004 (1.3×10−4) |
| WBC | Japanese [13] | 6 (135,468,266) | HSB1L-MYB | rs4895441 | 14,677 | G (0.37) | −0.073±0.012 (2×10−9) | 16351 | G (0.10) | −0.0002±0.006 (0.98) |
| WBC | Japanese [13] | 6 (31,193,749) | CDSN-PSORS1C1 | rs3094212 | 14,677 | C (0.35) | 0.070±0.012 (7×10−9) | 16295 | C (0.33) | −0.004±0.004 (0.32) |
| WBC | Japanese [13] | 7 (92,246,306) | CDK6 | rs445 ¶ | 14,677 | T (0.32) | −0.070±0.013 (2×10−8) | 16388 | T (0.19) | −0.025±0.005 (3.8×10−7) |
| WBC | Japanese [13] | 12 (67,247,851) | RAP1B | rs12313946 | 14,677 | C (0.47) | 0.065±0.012 (3×10−8) | 16388 | C (0.77) | 0.007±0.004 (0.062) |
| Neutrophils | Japanese [14] | 17 (35,410,238) | GSDMA-ORMDL3-CSF3 | rs4794822 | 7,665 | C (0.48) | −0.101±0.016 (6×10−10) | 7401 | C (0.66) | −0.048±0.073 (0.50) |
| Neutrophils | Japanese [14] | 20 (9,313,303) | PLCB4 | rs2072910 | 7,665 | C (0.30) | −0.111±0.018 (3×10−10) | 7401 | C (0.57) | 0.003±0.007 (0.95) |
| Eosinophils | European [15] | 2 (102,324,148) | IL1RL1 | rs1420101 | 21,510 | A (0.41) | 6.4±0.87* (5.3×10−14) | 6437 | A (0.32) | 0.004±0.002 (0.052) |
| Eosinophils | European [15] | 2 (213,532,290) | IKZF2 | rs12619285 | 21,510 | G (0.74) | 6.3±1.02* (5.4×10−10) | 6381 | G (0.33) | −0.005±0.002 (0.032) |
| Eosinophils | European [15] | 3 (129,743,240) | GATA2 | rs4857855 | 21,510 | T (0.82) | 9.4±1.12* (8.6×10−17) | 6437 | T (0.15) | −0.005±0.003 (0.091) |
| Eosinophils | European [15] | 5 (131,890,876) | IL5 | rs4143832 | 21,510 | C (0.16) | 7.1±1.07* (1.2×10−10) | 6328 | C (0.63) | 0.0001±0.002 (0.95) |
| Eosinophils | European [15] | 12 (110,368,991) | SH2B3 | rs3184504 | 21,510 | T (0.38) | 7.6±0.87* (6.5×10−19) | 6437 | T (0.07) | 0.007±0.004 (0.070) |
Genomic positions and annotations are given using NCBI build 36.1. Effect allele is always on the forward strand. Effect size (BETA) and standard error (SE) are given a natural log-transformed WBC. The replicated loci are highlighted in bold font.
*In reference [15], effect sizes were reported in percentages of standard deviation units.
¶: CDK6 rs445 was also associated with −0.0249±0.0049 lower neutrophil count in n = 7392 African Americans (P = 1.7×10−7).