Genomics Inform.  2014 Dec;12(4):225-230. 10.5808/GI.2014.12.4.225.

Genome-Wide Association Study Identifies Candidate Loci Associated with Platelet Count in Koreans

• Oh JH
• Kim YK
• Moon S
• Kim YJ
• Kim BJ

• KMID: 2391500
• DOI: http://doi.org/10.5808/GI.2014.12.4.225

Abstract

Platelets are derived from the fragments that are formed from the cytoplasm of bone marrow megakaryocytes-small irregularly shaped anuclear cells. Platelets respond to vascular damage, contracts blood vessels, and attaches to the damaged region, thereby stopping bleeding, together with the action of blood coagulation factors. Platelet activation is known to affect genes associated with vascular risk factors, as well as with arteriosclerosis and myocardial infarction. Here, we performed a genome-wide association study with 352,228 single-nucleotide polymorphisms typed in 8,842 subjects of the Korea Association Resource (KARE) project and replicated the results in 7,861 subjects from an independent population. We identified genetic associations between platelet count and common variants nearby chromosome 4p16.1 (p = 1.46 x 10(-10), in the KIAA0232 gene), 6p21 (p = 1.36 x 10(-7), in the BAK1 gene), and 12q24.12 (p = 1.11 x 10(-15), in the SH2B3 gene). Our results illustrate the value of large-scale discovery and a focus for several novel research avenues.

Keyword

genome-wide association study; Korea; platelet count

MeSH Terms

Arteriosclerosis
Blood Coagulation Factors
Blood Vessels
Blood Platelets
Bone Marrow
Cytoplasm
Genome-Wide Association Study*
Hemorrhage
Humans
Korea
Megakaryocytes
Myocardial Infarction
Platelet Activation
Platelet Count*
Polymorphism, Single Nucleotide
Risk Factors
Blood Coagulation Factors