TABLE 2.
Gene Loci Associated With RBC Traits in the Present and Previous GWASa
| Locus | Genesb | Present study |
Previous GWAS |
Population |
|||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HGB | HCT | RBC | MCV | MCH | MCHC | HGB | HCT | RBC | MCV | MCH | MCHC | E | J | ||
| 1q23.1 | SPTA1 | − | − | − | − | − | 2E-08 | − | − | − | − | − | 1E-10c | + | − |
| 3p24.2 | THRB | − | − | − | 6E-09 | − | − | − | − | − | 3E-08d | 4E-10d | − | − | + |
| 4q12 | − | − | − | 1E-08 | 3E-12 | 3E-11 | − | − | − | 2E-17d | 1E-15c | 3E-25d | − | + | + |
| 6p22.2∼1 | TRIM38 | − | − | − | 1E-09 | 6E-12 | 5E-08 | e | e | e | e | e | e | + | − |
| HFE | 2E-09 | − | − | 2E-21 | 2E-27 | 3E-10 | 6E-19c | 2E-09c | − | 1E-46c | − | − | + | − | |
| HIST1H2AC | − | − | − | 2E-14 | 1E-19 | 4E-10 | − | − | − | − | − | − | − | − | |
| 6p21.1 | CCND3 | − | − | − | 1E-18 | 6E-12 | − | − | − | 1E-10d | 1E-31c | 8E-20c | − | + | + |
| 6q23.3 | HBS1L/MYB | − | 1E-08 | 3E-31 | 5E-34 | 5E-38 | 3E-10 | − | 3E-15c | 1E-47c | 7E-86c | 7E-69c | 7E-14c | + | + |
| ALDH8A1 | − | − | 8E-09 | 5E-09 | 5E-09 | − | e | e | e | e | e | e | + | − | |
| 6q24.1 | LOC645434 | − | − | − | 1E-08 | − | − | − | − | − | 5E-25c | 1E-17c | − | + | − |
| 7q22.1 | TFR2 | − | − | − | 2E-09 | 2E-08 | − | − | 4E-10c | 5E-10f | 3E-11c | − | − | + | − |
| 15q22.3 | PTPLAD1, C15orf44 | − | − | − | − | 9E-09 | − | − | − | − | − | 3E-09d | − | − | + |
| 16q24.2 | − | − | − | − | − | − | 2E-08 | − | − | − | − | − | − | − | − |
| 16q24.3 | CDT1 | − | − | − | − | − | 2E-08 | − | − | − | − | − | 4E-13d | − | + |
| 19p13.3 | KLF1 | − | − | − | − | 2E-09 | − | − | − | − | − | 1E-11c | − | + | − |
| 22q12.3 | FBXO7 | − | − | − | 3E-10 | 2E-08 | − | − | − | − | 4E-10f | − | − | + | − |
| 22q12.3 | MPST | − | − | − | 1E-10 | 8E-11 | − | − | − | − | − | − | − | − | − |
| KCTD17/TMPRSS6 | 5E-11 | − | − | 2E-31 | 9E-41 | 5E-11 | 3E-25c | − | − | 2E-41c | 8E-34c | 8E-14d | + | + | |
| 22q13.3 | TYMP | − | − | − | 2E-08 | − | − | − | − | − | 1E-15c | 4E-08d | − | + | + |
The 4 novel genomic loci associated with RBC traits in patients of European ancestry identified in the present study are shown in bold. E = European; GWAS = genomewide association study; HCT = hematocrit; HGB = hemoglobin; J = Japanese; MCH = mean corpuscular hemoglobin; MCHC = mean corpuscular hemoglobin concentration; MCV = mean corpuscular volume; RBC = red blood cell. “−” = the locus was not identified in the present or previous study (in European or Japanese population); “+” = the locus was identified in previous study (in European or Japanese population).
On a given chromosome locus, we tabulated genes separately if they were located in different linkage disequilibrium blocks (see the “Methods” section).
P value is from Ganesh et al.4
P value is from Kamatani et al.8
P values were not available.
P value is from Soranzo et al.5