Genomics Inform.  2010 Sep;8(3):122-130.

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

• Kim KK
• Cho YS
• Cho NH
• Shin C
• Kim JW

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.

Keyword

hematological parameters; blood cell count; erythrocytes; genome-wide association study; copy number variation

MeSH Terms

Blood Cell Count
Blood Platelets
Coat Protein Complex I
Erythrocytes
Genome-Wide Association Study
Hemoglobins
Immune System Diseases
Leukocyte Count
Leukocytes
Platelet Count
Polymorphism, Single Nucleotide
Coat Protein Complex I
Hemoglobins