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Association between the ABO locus and hematological traits in Korean.

Hong KW, Moon S, Kim YJ, Kim YK, Kim DJ, Kim CS, Kim SS, Kim BJ - BMC Genet. (2012)

Bottom Line: Recently, genome-wide association studies identified a pleiotropic gene locus, ABO, as being significantly associated with hematological traits.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).Our findings confirm that ABO is one of the genetic factors that are associated with hematological traits in the Korean population.

View Article: PubMed Central - HTML - PubMed

Affiliation: Center for Genome Science, Korea National Institute of Health, Osong, Chung-Buk, 363-951, South Korea.

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.

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Probe intensity of copy number variation region: Log2ratio plot of the test sample and the reference (NA10851) signal intensity.
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Figure 1: Probe intensity of copy number variation region: Log2ratio plot of the test sample and the reference (NA10851) signal intensity.

Mentions: A copy number variation (CNV) region was detected on chromosome 9, 135,120,477–135,122,527 (Figure 1), which includes the 3′ untranslated region of the ABO gene. Because the array CGH experiment was conducted using a subset (n = 4694) of all KoGES samples, to maximize the sample size, we surveyed a tagging SNP that correlated well with CNV region genotypes. We determined the SNP rs8176717 to correlate with the CNV region (r2 = 0.96), the minor allele of which (T allele) implied the minor allele (deletion allele) of CNV.


Association between the ABO locus and hematological traits in Korean.

Hong KW, Moon S, Kim YJ, Kim YK, Kim DJ, Kim CS, Kim SS, Kim BJ - BMC Genet. (2012)

Probe intensity of copy number variation region: Log2ratio plot of the test sample and the reference (NA10851) signal intensity.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3472170&req=5

Figure 1: Probe intensity of copy number variation region: Log2ratio plot of the test sample and the reference (NA10851) signal intensity.
Mentions: A copy number variation (CNV) region was detected on chromosome 9, 135,120,477–135,122,527 (Figure 1), which includes the 3′ untranslated region of the ABO gene. Because the array CGH experiment was conducted using a subset (n = 4694) of all KoGES samples, to maximize the sample size, we surveyed a tagging SNP that correlated well with CNV region genotypes. We determined the SNP rs8176717 to correlate with the CNV region (r2 = 0.96), the minor allele of which (T allele) implied the minor allele (deletion allele) of CNV.

Bottom Line: Recently, genome-wide association studies identified a pleiotropic gene locus, ABO, as being significantly associated with hematological traits.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).Our findings confirm that ABO is one of the genetic factors that are associated with hematological traits in the Korean population.

View Article: PubMed Central - HTML - PubMed

Affiliation: Center for Genome Science, Korea National Institute of Health, Osong, Chung-Buk, 363-951, South Korea.

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.

Show MeSH
Related in: MedlinePlus