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Comparison of Erythrocyte Traits Among European, Japanese and Korean

  • Kwon, Ji-Sun (Department of Bioinformatics and Life Science, Soongsil University) ;
  • Kim, Sang-Soo (Department of Bioinformatics and Life Science, Soongsil University)
  • Accepted : 2010.08.29
  • Published : 2010.09.30

Abstract

Erythrocyte traits are heritable and indirect indicators of blood diseases caused by erythrocyte, but their genetic factors are largely unknown. So we performed genome-wide association study in 8,842 Korean individuals to identify genetic factors influencing erythrocyte traits. We identified 40 associations for three erythrocyte traits at genome-wide significance levels (p < $1{\times}10^{-6}$). We compared these associated loci with those reported in genome-wide association studies of European and Japanese. Our findings include previously identified loci(HBS1L-MYB, TMPRSS6, USP49 and CCND3) in other studies and novel associations (MRDS1/OFCC1, CSDE1, NRAS and 8 other loci). For example, SNP rs4895440 of HBS1L-MYB intergenic region on chromosome 6q23.3 is one of the most associations influencing erythrocyte traits (p=$8.33{\times}10^{-27}$).

Keywords

erythrocyte;GWAS;hematocrit;hemoglobin;red blood cell

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