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KMID : 1144820210270030187
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대한의생명과학회지
2021 Volume.27 No. 3 p.187 ~ p.194
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Replication Study of Genome-Wide Association Study of Platelet Count in Korean Health Examinees (HEXA) Cohort
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Jeoung Min-Ji
Kong Yoon-Ji
Park Sang-Jung
Jin Hyun-Seok
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Abstract
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Platelets are derived from fragments formed in the cytoplasm of bone marrow megakaryocytes. Platelet count (PLT) can be altered by factors such as platelet production, destruction, and inflammation. In a previous study, the significant single nucleotide polymorphisms (SNP) were reported by the genome-wide association study (GWAS) for PLT in Koreans. In this study, it was confirmed whether significant SNPs were replicated in the HEXA (The Health Examinees) cohort. As a result, the SNPs of the THPO (rs6141), BAK1 (rs210314, rs9296095), GGNBP1 (rs75080135), ACAD10 (rs6490294), and ABCC4 (rs4148441) were significantly correlated with PLT (P < 10-8). At the same time, it was confirmed that the direction of influence was the same according to the genotype. In conclusion, it can be seen that common SNPs are associated with the platelet count regardless of the cohort for Koreans.
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KEYWORD
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GWAS, Platelet, HEXA cohort, SNP
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