Table 1.
Study characteristics.
Table 2.
Results of meta-analysis and replication analysis for 15 most significant SNPs in the ABO locus.
Fig 1.
Meta-analysis association results for hemoglobin in unconditional and conditional analyses in the ABO locus.
Regional plots show (A) unconditional analysis and analysis conditional on (B) O, (C) AO, (D) AA, (E) B and (F) AB blood group haplotype. The most significant SNP in the unconditional analysis, rs507666, is highlighted throughout to facilitate comparison of results. The color coding of the LD between the SNPs ranges from dark blue for r2 = 0–0.2 to red for r2 = 0.8–1, and is grey where LD information was not available. Blue line represents suggestive and red line significant threshold.
Table 3.
One-way analysis of variance in hemoglobin (Hb), hematocrit (Hct) and red blood cell count (RCC) between different blood groups, as derived based on three SNP haplotypes.
Fig 2.
Manhattan plots of meta-analysis association results in unconditional and conditional analyses for hemoglobin (Hb), hematocrit (Hct) and red blood cell count (RCC).
Results show unconditional analysis for all three traits (top row) and analysis of Hb conditional on (A) Hct and (B) RCC, of Hct conditional on (C) Hb and (D) RCC and of RCC conditional on (E) Hb and (F) Hct. Line at–log10(P value) = 5.3 represents suggestive threshold and line at–log10(P value) = 7.3 significant threshold.
Fig 3.
Comparison of the effect sizes on 15 ABO SNPs between eight different traits.
Traits include von Willebrand factor (log transformed, logVWF) and factor VIII (FVIII) for coagulation factors, total cholesterol (TC) and low-density lipoprotein (LDL) for lipids, hemoglobin (Hb), red blood cell count (RCC) and hematocrit (Hct) for the red blood cell (RBC) traits and alkaline phosphatase (log transformed, logALP) for liver marker group. The colored bar for each SNP represents the 95% confidence interval of the effect size.
Table 4.
Blood groups derived based on three SNP haplotypes.