A Genome-wide Association Study of Copy Number Variation in Hematological Parameters in the Korean Population.
- Author:
Ka Kyung KIM
1
;
Yoon Shin CHO
;
Nam H CHO
;
Chol SHIN
;
Jong Won KIM
Author Information
1. Samsung Biomedical Research Institute, Samsung Medical Center, Seoul 135-710, Korea.
- Publication Type:Original Article
- Keywords:
hematological parameters;
blood cell count;
erythrocytes;
genome-wide association study;
copy number variation
- MeSH:
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
- From:Genomics & Informatics
2010;8(3):122-130
- CountryRepublic of Korea
- Language:English
-
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.
