A Genome-wide Association Study of Copy Number Variation in Hematological Parameters in the Korean Population

ABSTRACT

Abnormal hematological values are associated with various disorders including cancer and cardiovascular, metabolic, infectious, and immune diseases. We report the copy number variations (CNVs) in clinically relevant hematological parameters, including hemoglobin level, red and white blood cell counts, platelet counts, and red blood cell (RBC) volume. We describe CNVs in several loci associated with these hematological parameters in 8,842 samples from Korean population-based studies. The data that we evaluated included four RBC parameters, one platelet parameter, and one associated with total white blood cell (WBC) count, exceeding the genome-wide significance. We show that CNVs in hematological parameters are associated with some loci, different from previously associated loci reported in single nucleotide polymorphism (SNP) association studies.