Table 2.
Narrowing of generalized fine-mapped RBC trait association signals using LD with lead SNPs.
| Trait | Locus | Trans-ethnic lead SNP | Trans-ethnic LD SNPs (n) | Trans-ethnic range (kb) | Malmo LD SNPs (n) | Malmo range (kb) | African American LD SNPs (n) | African American range (kb) | Hispanic/Latino LD SNPs (n) | Hispanic/Latino range (kb) | Locus Refinement (kb) |
|---|---|---|---|---|---|---|---|---|---|---|---|
| HGB | HFE (1) | rs1799945 | 4 | 37.2 | 11 | 150 | 5 | 46.2 | 5 | 37.2 | 113 |
| MCH | HFE (1) | rs1799945 | 4 | 37.2 | 11 | 150 | 5 | 46.2 | 5 | 37.2 | 113 |
| MCV | HFE (1) | rs1799945 | 4 | 37.2 | 11 | 150 | 5 | 46.2 | 5 | 37.2 | 113 |
| MCH | HFE (2) | rs55925606 | 7 | 280 | 5 | 255 | 7 | 280 | 5 | 220 | – |
| HCTa | ABO (1) | rs635634 | 4 | 5.1 | 5 | 13.1 | 3 | 13.1 | 5 | 13.1 | 8 |
| HGB | ABO (1) | rs495828 | 2 | 0.7 | 5 | 13.1 | 1 | 0.7 | 4 | 13.1 | 12 |
| HGBa | ABO (2) | rs10901252 | 3 | 3.4 | 18 | 79.3 | 5 | 4.6 | 5 | 14.2 | 76 |
| MCHCa | ABO (2) | rs8176722 | 0 | – | 15 | 21.2 | 0 | – | 0 | – | 21 |
| HCT | HK1 | rs72805692 | 0 | – | 1 | 4.6 | 1 | 4.6 | 0 | – | 5 |
| HGB | HK1 | rs72805692 | 0 | – | 1 | 4.6 | 1 | 4.6 | 0 | – | 5 |
| HCTa | SH2B3/ATXN2 | rs10774625 | 10 | 1022 | 3 | 123 | 5 | 188 | 5 | 188 | – |
| HGBa | SH2B3/ATXN2 | rs10774631 | 18 | 173.7 | 41 | 181 | 18 | 176 | 19 | 174 | 7 |
| HCT | TMPRSS6 | rs855791 | 0 | – | 1 | 6.7 | 0 | – | 0 | – | 7 |
| HGB | TMPRSS6 | rs855791 | 0 | – | 1 | 6.7 | 0 | – | 0 | – | 7 |
| MCH | TMPRSS6 | rs855791 | 0 | – | 1 | 6.7 | 0 | – | 0 | – | 7 |
| MCHC | TMPRSS6 | rs4820268 | 0 | – | 1 | 6.7 | 0 | – | 0 | – | 7 |
| MCV | TMPRSS6 | rs855791 | 0 | – | 1 | 6.7 | 0 | – | 0 | – | 7 |
*
SNPs reported as in LD if MAF > 0.01 in the study population and r2>0.8 with the lead SNP.
a
Previously reported association did not generalize when only study populations reporting all six RBC traits were considered. African American LD represented by the ARIC study population; Hispanic/Latino LD represented by the HCHS/SOL study population. PAGE LD was calculated using relevant proportions of African Americans and Hispanic/Latinos to represent trans-ethnic study population (see Methods).