Publication Date:
2012-09-11
Description:
Background: Recently, genomewide association studies identified a pleiotropic gene locus, ABO, as beingsignificantly associated with hematological traits. To confirm the effects of ABO onhematological traits, we examined the link between the ABO locus and hematological traits inKorean population-based cohorts. Results: Six tagging SNPs for ABO were analyzed with regard to their effects on hematological traits[white blood cell count (WBC), red blood cell count (RBC), platelet (Plat), mean corpuscularvolume (MCV), and mean corpuscular haemoglobin concentration (MCHC)]. Linearregression analyses were performed, controlling for recruitment center, sex, and age ascovariates. 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 areported SNP (rs8176746), as well as rs495828 and a reported SNP (rs651007), showedperfect linkage disequilibrium status (r2s = 0.99). Of the remaining 3 SNPs (rs8176720,rs8176717 and rs687289), rs8176717 generated an independent signal with moderate p-value(= 0.045) when it was adjusted for by rs2073823 (the most significant SNP). We alsoidentified a copy number variation (CNV) that was tagged by the SNP rs8176717, the minorallele of which correlated with the deletion allele of CNV. Our haplotype analysis indicatedthat the haplotype that contained the CNV deletion was significantly associated with MCV(beta +/- se = 0.363 +/- 0.118, p =2.09 x 10-3). Conclusions: Our findings confirm that ABO is one of the genetic factors that are associated withhematological traits in the Korean population. This result is notable, because GWASs fail toevaluate the link between a CNV and phenotype traits.
Electronic ISSN:
1471-2156
Topics:
Biology
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