Table 2 Genetic variants associated with RBC traits in African Americans
Discovery Cohort (n = 1904)Replication Cohort (n = 411)Combined Cohort (n = 2315)
TraitChrSNPPositionaAllelesbGeneMAFβ ± SEcPMAFβ ± SEPMAFβ ± SEP
MCHC11p15.4rs71203915187483C/TNA0.120.29 ± 0.063E-070.110.33 ± 0.125E-030.120.30 ± 0.055E-09
MCV16p13.3rs9924561254781T/GITFG30.09−3.34 ± 0.362E-200.11−4.63 ± 0.683E-110.10−3.57 ± 0.325E-29
MCH16p13.3rs9924561254781T/GITFG30.09−1.46 ± 0.142E-250.11−1.99 ± 0.275E-130.10−1.56 ± 0.128E-36
MCHC16p13.3rs9924561254781T/GITFG30.09−0.44 ± 0.064E-120.12−0.56 ± 0.111E-060.10−0.47 ± 0.069E-17
RBC countXq28rs1050828153417411A/GG6PD0.12−0.20 ± 0.033E-120.12−0.17 ± 0.070.020.12−0.20 ± 0.034E-13
MCVXq28rs1050828153417411A/GG6PD0.122.43 ± 0.354E-120.122.59 ± 0.789E-040.122.46 ± 0.321E-14
MCHXq28rs1050828153417411A/GG6PD0.120.71 ± 0.142E-070.120.76 ± 0.310.010.120.72 ± 0.129E-09
  • RBC, red blood cell; Chr, chromosome; SNP, single-nucleotide polymorphism; MAF, minor allele frequency; MCHC, mean corpuscular hemoglobin concentration; MCV, mean corpuscular volume; MCH, mean corpuscular hemoglobin; NCBI, National Center for Biotechnology Information.

  • a NCBI human reference genome build 36.

  • b The first allele is the minor allele.

  • c β = regression coefficient; for the additive effects of SNPs, the direction of the regression coefficient represents the effect of each extra minor allele.