Genetic Variants for Hemoglobinopathies and Factors Known to Influence Red Blood Cell Biology and Their Associations With HbA1c Levels (in NGSP %-unit) in NHW and Black DPP Participants
| . | . | NHW . | Black . | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Gene . | SNP . | MAF CEU . | MAF in DPP Whites . | N . | β (SE) . | P . | MAF YRI . | MAF in DPP Blacks . | N . | β (SE) . | P . |
| Hemoglobin | |||||||||||
| HBB (SCT) | rs334a | 0 | A (0.07%) | 1473 | 0.88 (0.61) | 0.15 | 0.114 | A (6.5%) | 537 | 0.44 (0.08) | 2.14 × 10−8 |
| HBB (common) | rs10128556 | 0.317 | T (31.9%) | 1587 | −0.038 (0.016) | 0.02 | 0.067 | T (16.0%) | 586 | −0.064 (0.046) | 0.17 |
| Hemoglobin F | |||||||||||
| BCL11A | rs7599488 | 0.392 | T (43.5%) | 1606 | −0.017 (0.015) | 0.28 | 0.305 | T (33.3%) | 582 | 0.035 (0.036) | 0.33 |
| BCL11A | rs4671393 | 0.142 | A (16.0%) | 1561 | −0.037 (0.021) | 0.07 | 0.250 | A (22.7%) | 560 | −0.085 (0.039) | 0.03 |
| HBS1L-MYB | rs28384513 | 0.3 | G (35.5%) | 1617 | −0.067 (0.015) | 0.000015 | 0.144 | G (23.5%) | 593 | 0.038 (0.040) | 0.34 |
| HBS1L-MYB | rs114398597 | NA | G (0.1%) | 1627 | −0.053 (0.306) | 0.86 | 0.042 | G (1.3%) | 594 | −0.319 (0.154) | 0.04 |
| HBS1L-MYB | rs9402686 | 0.217 | A (25.9%) | 1612 | −0.091 (0.017) | 9.19 × 10−8 | 0.058 | A (8.6%) | 590 | −0.077 (0.061) | 0.21 |
| Enzymes implicated in red cell biology | |||||||||||
| G6PD | rs1050828 | 0 | T (0.1%) | 1625 | — | — | 0.221 | T (11.6%) | 594 | −0.605 (0.039) | 4.45 × 10−45 |
| HK1 | rs16926246 | 0.11 | T (12.1%) | 1616 | −0.071 (0.023) | 0.002 | 0.183 | T (14.1%) | 589 | −0.035 (0.050) | 0.48 |
| Red cell membrane | |||||||||||
| SPTA1 | rs7418956 | 0 | T (0.1%) | 1623 | 0.211 (0.306) | 0.49 | 0.083 | T (5.9%) | 594 | 0.003 (0.074) | 0.96 |
| SPTA1 | rs35948326 | 0.042 | T (4.4%) | 1563 | −0.061 (0.038) | 0.11 | N/A | T (1.4%) | 560 | 0.111 (0.152) | 0.47 |
| SLC4A1 | rs5036 | 0.033 | C (2.0%) | 1624 | 0.006 (0.054) | 0.91 | 0.076 | C (8.0%) | 593 | 0.063 (0.061) | 0.30 |
| Iron metabolism | |||||||||||
| HFE | rs1799945 | 0.179 | G (15.2%) | 1619 | −0.006 (0.021) | 0.77 | 0 | G (3.6%) | 591 | −0.041 (0.088) | 0.64 |
| . | . | NHW . | Black . | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Gene . | SNP . | MAF CEU . | MAF in DPP Whites . | N . | β (SE) . | P . | MAF YRI . | MAF in DPP Blacks . | N . | β (SE) . | P . |
| Hemoglobin | |||||||||||
| HBB (SCT) | rs334a | 0 | A (0.07%) | 1473 | 0.88 (0.61) | 0.15 | 0.114 | A (6.5%) | 537 | 0.44 (0.08) | 2.14 × 10−8 |
| HBB (common) | rs10128556 | 0.317 | T (31.9%) | 1587 | −0.038 (0.016) | 0.02 | 0.067 | T (16.0%) | 586 | −0.064 (0.046) | 0.17 |
| Hemoglobin F | |||||||||||
| BCL11A | rs7599488 | 0.392 | T (43.5%) | 1606 | −0.017 (0.015) | 0.28 | 0.305 | T (33.3%) | 582 | 0.035 (0.036) | 0.33 |
| BCL11A | rs4671393 | 0.142 | A (16.0%) | 1561 | −0.037 (0.021) | 0.07 | 0.250 | A (22.7%) | 560 | −0.085 (0.039) | 0.03 |
| HBS1L-MYB | rs28384513 | 0.3 | G (35.5%) | 1617 | −0.067 (0.015) | 0.000015 | 0.144 | G (23.5%) | 593 | 0.038 (0.040) | 0.34 |
| HBS1L-MYB | rs114398597 | NA | G (0.1%) | 1627 | −0.053 (0.306) | 0.86 | 0.042 | G (1.3%) | 594 | −0.319 (0.154) | 0.04 |
| HBS1L-MYB | rs9402686 | 0.217 | A (25.9%) | 1612 | −0.091 (0.017) | 9.19 × 10−8 | 0.058 | A (8.6%) | 590 | −0.077 (0.061) | 0.21 |
| Enzymes implicated in red cell biology | |||||||||||
| G6PD | rs1050828 | 0 | T (0.1%) | 1625 | — | — | 0.221 | T (11.6%) | 594 | −0.605 (0.039) | 4.45 × 10−45 |
| HK1 | rs16926246 | 0.11 | T (12.1%) | 1616 | −0.071 (0.023) | 0.002 | 0.183 | T (14.1%) | 589 | −0.035 (0.050) | 0.48 |
| Red cell membrane | |||||||||||
| SPTA1 | rs7418956 | 0 | T (0.1%) | 1623 | 0.211 (0.306) | 0.49 | 0.083 | T (5.9%) | 594 | 0.003 (0.074) | 0.96 |
| SPTA1 | rs35948326 | 0.042 | T (4.4%) | 1563 | −0.061 (0.038) | 0.11 | N/A | T (1.4%) | 560 | 0.111 (0.152) | 0.47 |
| SLC4A1 | rs5036 | 0.033 | C (2.0%) | 1624 | 0.006 (0.054) | 0.91 | 0.076 | C (8.0%) | 593 | 0.063 (0.061) | 0.30 |
| Iron metabolism | |||||||||||
| HFE | rs1799945 | 0.179 | G (15.2%) | 1619 | −0.006 (0.021) | 0.77 | 0 | G (3.6%) | 591 | −0.041 (0.088) | 0.64 |
Each model is adjusted for age at randomization and sex.
rs334 was imputed using GWImp-COMPS (17).
Abbreviations: CEU, reference European population; NA, not applicable; YRI: reference African population.
Genetic Variants for Hemoglobinopathies and Factors Known to Influence Red Blood Cell Biology and Their Associations With HbA1c Levels (in NGSP %-unit) in NHW and Black DPP Participants
| . | . | NHW . | Black . | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Gene . | SNP . | MAF CEU . | MAF in DPP Whites . | N . | β (SE) . | P . | MAF YRI . | MAF in DPP Blacks . | N . | β (SE) . | P . |
| Hemoglobin | |||||||||||
| HBB (SCT) | rs334a | 0 | A (0.07%) | 1473 | 0.88 (0.61) | 0.15 | 0.114 | A (6.5%) | 537 | 0.44 (0.08) | 2.14 × 10−8 |
| HBB (common) | rs10128556 | 0.317 | T (31.9%) | 1587 | −0.038 (0.016) | 0.02 | 0.067 | T (16.0%) | 586 | −0.064 (0.046) | 0.17 |
| Hemoglobin F | |||||||||||
| BCL11A | rs7599488 | 0.392 | T (43.5%) | 1606 | −0.017 (0.015) | 0.28 | 0.305 | T (33.3%) | 582 | 0.035 (0.036) | 0.33 |
| BCL11A | rs4671393 | 0.142 | A (16.0%) | 1561 | −0.037 (0.021) | 0.07 | 0.250 | A (22.7%) | 560 | −0.085 (0.039) | 0.03 |
| HBS1L-MYB | rs28384513 | 0.3 | G (35.5%) | 1617 | −0.067 (0.015) | 0.000015 | 0.144 | G (23.5%) | 593 | 0.038 (0.040) | 0.34 |
| HBS1L-MYB | rs114398597 | NA | G (0.1%) | 1627 | −0.053 (0.306) | 0.86 | 0.042 | G (1.3%) | 594 | −0.319 (0.154) | 0.04 |
| HBS1L-MYB | rs9402686 | 0.217 | A (25.9%) | 1612 | −0.091 (0.017) | 9.19 × 10−8 | 0.058 | A (8.6%) | 590 | −0.077 (0.061) | 0.21 |
| Enzymes implicated in red cell biology | |||||||||||
| G6PD | rs1050828 | 0 | T (0.1%) | 1625 | — | — | 0.221 | T (11.6%) | 594 | −0.605 (0.039) | 4.45 × 10−45 |
| HK1 | rs16926246 | 0.11 | T (12.1%) | 1616 | −0.071 (0.023) | 0.002 | 0.183 | T (14.1%) | 589 | −0.035 (0.050) | 0.48 |
| Red cell membrane | |||||||||||
| SPTA1 | rs7418956 | 0 | T (0.1%) | 1623 | 0.211 (0.306) | 0.49 | 0.083 | T (5.9%) | 594 | 0.003 (0.074) | 0.96 |
| SPTA1 | rs35948326 | 0.042 | T (4.4%) | 1563 | −0.061 (0.038) | 0.11 | N/A | T (1.4%) | 560 | 0.111 (0.152) | 0.47 |
| SLC4A1 | rs5036 | 0.033 | C (2.0%) | 1624 | 0.006 (0.054) | 0.91 | 0.076 | C (8.0%) | 593 | 0.063 (0.061) | 0.30 |
| Iron metabolism | |||||||||||
| HFE | rs1799945 | 0.179 | G (15.2%) | 1619 | −0.006 (0.021) | 0.77 | 0 | G (3.6%) | 591 | −0.041 (0.088) | 0.64 |
| . | . | NHW . | Black . | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Gene . | SNP . | MAF CEU . | MAF in DPP Whites . | N . | β (SE) . | P . | MAF YRI . | MAF in DPP Blacks . | N . | β (SE) . | P . |
| Hemoglobin | |||||||||||
| HBB (SCT) | rs334a | 0 | A (0.07%) | 1473 | 0.88 (0.61) | 0.15 | 0.114 | A (6.5%) | 537 | 0.44 (0.08) | 2.14 × 10−8 |
| HBB (common) | rs10128556 | 0.317 | T (31.9%) | 1587 | −0.038 (0.016) | 0.02 | 0.067 | T (16.0%) | 586 | −0.064 (0.046) | 0.17 |
| Hemoglobin F | |||||||||||
| BCL11A | rs7599488 | 0.392 | T (43.5%) | 1606 | −0.017 (0.015) | 0.28 | 0.305 | T (33.3%) | 582 | 0.035 (0.036) | 0.33 |
| BCL11A | rs4671393 | 0.142 | A (16.0%) | 1561 | −0.037 (0.021) | 0.07 | 0.250 | A (22.7%) | 560 | −0.085 (0.039) | 0.03 |
| HBS1L-MYB | rs28384513 | 0.3 | G (35.5%) | 1617 | −0.067 (0.015) | 0.000015 | 0.144 | G (23.5%) | 593 | 0.038 (0.040) | 0.34 |
| HBS1L-MYB | rs114398597 | NA | G (0.1%) | 1627 | −0.053 (0.306) | 0.86 | 0.042 | G (1.3%) | 594 | −0.319 (0.154) | 0.04 |
| HBS1L-MYB | rs9402686 | 0.217 | A (25.9%) | 1612 | −0.091 (0.017) | 9.19 × 10−8 | 0.058 | A (8.6%) | 590 | −0.077 (0.061) | 0.21 |
| Enzymes implicated in red cell biology | |||||||||||
| G6PD | rs1050828 | 0 | T (0.1%) | 1625 | — | — | 0.221 | T (11.6%) | 594 | −0.605 (0.039) | 4.45 × 10−45 |
| HK1 | rs16926246 | 0.11 | T (12.1%) | 1616 | −0.071 (0.023) | 0.002 | 0.183 | T (14.1%) | 589 | −0.035 (0.050) | 0.48 |
| Red cell membrane | |||||||||||
| SPTA1 | rs7418956 | 0 | T (0.1%) | 1623 | 0.211 (0.306) | 0.49 | 0.083 | T (5.9%) | 594 | 0.003 (0.074) | 0.96 |
| SPTA1 | rs35948326 | 0.042 | T (4.4%) | 1563 | −0.061 (0.038) | 0.11 | N/A | T (1.4%) | 560 | 0.111 (0.152) | 0.47 |
| SLC4A1 | rs5036 | 0.033 | C (2.0%) | 1624 | 0.006 (0.054) | 0.91 | 0.076 | C (8.0%) | 593 | 0.063 (0.061) | 0.30 |
| Iron metabolism | |||||||||||
| HFE | rs1799945 | 0.179 | G (15.2%) | 1619 | −0.006 (0.021) | 0.77 | 0 | G (3.6%) | 591 | −0.041 (0.088) | 0.64 |
Each model is adjusted for age at randomization and sex.
rs334 was imputed using GWImp-COMPS (17).
Abbreviations: CEU, reference European population; NA, not applicable; YRI: reference African population.
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