| Summary: | <p>Abstract</p> <p>Background</p> <p>Recently, genome-wide association studies identified a pleiotropic gene locus, <it>ABO</it>, as being significantly associated with hematological traits. To confirm the effects of <it>ABO</it> on hematological traits, we examined the link between the <it>ABO</it> locus and hematological traits in Korean population-based cohorts.</p> <p>Results</p> <p>Six tagging SNPs for <it>ABO</it> were analyzed with regard to their effects on hematological traits [white blood cell count (WBC), red blood cell count (RBC), platelet (Plat), mean corpuscular volume (MCV), and mean corpuscular haemoglobin concentration (MCHC)]. Linear regression analyses were performed, controlling for recruitment center, sex, and age as covariates. Of the 6 tagging SNPs, 3 (rs2073823, rs8176720, and rs495828) and 3 (rs2073823, rs8176717, and rs687289) were significantly associated with RBC and MCV, respectively (Bonferroni correction p-value criteria < 0.05/6 = 0.008). rs2073823 and a reported SNP (rs8176746), as well as rs495828 and a reported SNP (rs651007), showed perfect linkage disequilibrium status (<it>r</it><sup>2</sup>s = 0.99). Of the remaining 3 SNPs (rs8176720, rs8176717 and rs687289), rs8176717 generated an independent signal with moderate <it>p</it>-value (= 0.045) when it was adjusted for by rs2073823 (the most significant SNP). We also identified a copy number variation (CNV) that was tagged by the SNP rs8176717, the minor allele of which correlated with the deletion allele of CNV. Our haplotype analysis indicated that the haplotype that contained the CNV deletion was significantly associated with MCV (<it>β</it> ± se = 0.363 ± 0.118, <it>p</it> =2.09 × 10<sup>-3</sup>).</p> <p>Conclusions</p> <p>Our findings confirm that <it>ABO</it> is one of the genetic factors that are associated with hematological traits in the Korean population. This result is notable, because GWASs fail to evaluate the link between a CNV and phenotype traits.</p>
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