title: Association between the ABO locus and hematological traits in Korean.
abstract: BACKGROUND
  Recently, genome-wide association studies identified a pleiotropic gene locus, ABO, as being significantly associated with hematological traits. To confirm the effects of ABO on hematological traits, we examined the link between the ABO locus and hematological traits in Korean 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 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 (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 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 (β ± se = 0.363 ± 0.118, p =2.09 × 10-3).
  
  
  CONCLUSIONS
  Our findings confirm that ABO 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.
authors.affiliation: Center for Genome Science, Korea National Institute of Health, Osong, Chung-Buk, 363-951, South Korea.
authors.forename: Kyung-Won
authors.initials: KW
authors.lastname: Hong
authors.forename: Sanghoon
authors.initials: S
authors.lastname: Moon
authors.forename: Young Jin
authors.initials: YJ
authors.lastname: Kim
authors.forename: Yun Kyoung
authors.initials: YK
authors.lastname: Kim
authors.forename: Dong-Joon
authors.initials: DJ
authors.lastname: Kim
authors.forename: Cheong-sik
authors.initials: CS
authors.lastname: Kim
authors.forename: Sung Soo
authors.initials: SS
authors.lastname: Kim
authors.forename: Bong-Jo
authors.initials: BJ
authors.lastname: Kim
mesh_terms: D000017:ABO Blood-Group System / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D001790:Blood Physiological Phenomena / Q000235:genetics*; D056915:DNA Copy Number Variations; D006801:Humans; D007723:Korea; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide
chemical_list: D000017:ABO Blood-Group System