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

Oh, Ji Hee; Kim, Yun Kyoung; Moon, Sanghoon; Kim, Young Jin; Kim, Bong-Jo

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자료유형: 학술저널

저자정보: Oh, Ji Hee (Division of Structural and Functional Genomics, National Institute of Health) Kim, Yun Kyoung (Division of Structural and Functional Genomics, National Institute of Health) Moon, Sanghoon (Division of Structural and Functional Genomics, National Institute of Health) Kim, Young Jin (Division of Structural and Functional Genomics, National Institute of Health) Kim, Bong-Jo (Division of Structural and Functional Genomics, National Institute of Health)

저널정보: 한국유전체학회 Genomics & informatics Genomics & informatics 제12권 제4호

발행연도: 2014.1

수록면: 225 - 230 (6page)

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

#genome-wide association study #Korea #platelet count

참고문헌 (31)

참고문헌 신청

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