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Genome-Wide Association Study Identifies Candidate Loci Associated with Platelet Count in Koreans
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  • Genome-Wide Association Study Identifies Candidate Loci Associated with Platelet Count in Koreans
  • Genome-Wide Association Study Identifies Candidate Loci Associated with Platelet Count in Koreans
저자명
Oh. Ji Hee,Kim. Yun Kyoung,Moon. Sanghoon,Kim. Young Jin,Kim. Bong-Jo
간행물명
Genomics & informatics
권/호정보
2014년|12권 4호|pp.225-230 (6 pages)
발행정보
한국유전체학회
파일정보
정기간행물|ENG|
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이 논문은 한국과학기술정보연구원과 논문 연계를 통해 무료로 제공되는 원문입니다.
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기타언어초록

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 ($p=1.46{ imes}10^{10}$, in the KIAA0232 gene), 6p21 ($p=1.36{ imes}10^{-7}$, in the BAK1 gene), and 12q24.12 ($p=1.11{ imes}10^{-15}$, in the SH2B3 gene). Our results illustrate the value of large-scale discovery and a focus for several novel research avenues.