TABLE 3.
Newly Discovered Loci (for Individuals of European Ancestry) Associated With at Least One of the RBC Traitsa
| Trait | Lead SNP | Chromosome | Gene | MAF | βb |
P value |
|||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Mayo (n=3021) | GHC (n=2266) | VUMC (n=2586) | Discoveryc (n=7873) | MC (n=3648) | NU (n=965) | Replicationd (n=4613) | Combined (n=12,486) | ||||||
| MCV | rs9310736 | 3p24.2 | THRB | 0.34 (A) | 0.35 (G) | 3E-03 | 6E-02 | 7E-03 | 1E-05 | 8E-05 | 8E-02 | 1E-05 | 6E-09 |
| MCH | rs8035639 | 15q22.3 | PTPLAD1, C15orf44 | 0.42 (T) | 0.13 (C) | 4E-02 | 1E-02 | 9E-05 | 2E-06 | 2E-02 | 5E-02 | 3E-03 | 8E-09 |
| MCHC | rs9937239 | 16q24.2 | - | 0.25 (A) | 0.06 (G) | 6E-05 | 5E-02 | 3E-04 | 9E-08 | 8E-01 | 6E-02 | 2E-01 | 2E-08 |
| MCHC | rs837763 | 16q24.3 | CDT1 | 0.43 (G) | −0.06 (A) | 3E-04 | 1E-01 | 1E-06 | 5E-10 | 8E-05 | 4E-01 | 2E-04 | 2E-08 |
a
GHC = Group Health Cooperative; MAF = minor allele frequency (in the combined cohort); MC = Marshfield Clinic; MCH = mean corpuscular hemoglobin; MCHC = mean corpuscular hemoglobin concentration; MCV = mean corpuscular volume; RBC = red blood cell; VUMC = Vanderbilt University Medical Center; NU = Northwestern University; SNP = single-nucleotide polymorphism. The physical location for each SNP is shown in Table S2.
b
The β is the effect of the major allele in the combined cohort (based on the efficient mixed-model association-expedited [EMMAX] analysis).
c
Discovery cohort = Mayo, GHC, and VUMC.
d
Replication cohort = MC and NU.