Genome-Wide Association Study Identifies Candidate Loci Associated with Platelet Count in Koreans
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...
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| Language: | English |
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BioMed Central
2014-12-01
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| Series: | Genomics & Informatics |
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| Online Access: | http://genominfo.org/upload/pdf/gni-12-225.pdf |
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| author | Ji Hee Oh Yun Kyoung Kim Sanghoon Moon Young Jin Kim Bong-Jo Kim |
| author_facet | Ji Hee Oh Yun Kyoung Kim Sanghoon Moon Young Jin Kim Bong-Jo Kim |
| author_sort | Ji Hee Oh |
| collection | DOAJ |
| description | 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 × 10-10, in the KIAA0232 gene), 6p21 (p = 1.36 × 10-7, in the BAK1 gene), and 12q24.12 (p = 1.11 × 10-15, in the SH2B3 gene). Our results illustrate the value of large-scale discovery and a focus for several novel research avenues. |
| format | Article |
| id | doaj-art-3cb67c7992094b3b81b8f10be8702eb3 |
| institution | Kabale University |
| issn | 1598-866X 2234-0742 |
| language | English |
| publishDate | 2014-12-01 |
| publisher | BioMed Central |
| record_format | Article |
| series | Genomics & Informatics |
| spelling | doaj-art-3cb67c7992094b3b81b8f10be8702eb32025-02-02T15:47:25ZengBioMed CentralGenomics & Informatics1598-866X2234-07422014-12-0112422523010.5808/GI.2014.12.4.225111Genome-Wide Association Study Identifies Candidate Loci Associated with Platelet Count in KoreansJi Hee Oh0Yun Kyoung Kim1Sanghoon Moon2Young Jin Kim3Bong-Jo Kim4Division of Structural and Functional Genomics, National Institute of Health, Cheongwon 363-951, Korea.Division of Structural and Functional Genomics, National Institute of Health, Cheongwon 363-951, Korea.Division of Structural and Functional Genomics, National Institute of Health, Cheongwon 363-951, Korea.Division of Structural and Functional Genomics, National Institute of Health, Cheongwon 363-951, Korea.Division of Structural and Functional Genomics, National Institute of Health, Cheongwon 363-951, Korea.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 × 10-10, in the KIAA0232 gene), 6p21 (p = 1.36 × 10-7, in the BAK1 gene), and 12q24.12 (p = 1.11 × 10-15, in the SH2B3 gene). Our results illustrate the value of large-scale discovery and a focus for several novel research avenues.http://genominfo.org/upload/pdf/gni-12-225.pdfgenome-wide association studyKoreaplatelet count |
| spellingShingle | Ji Hee Oh Yun Kyoung Kim Sanghoon Moon Young Jin Kim Bong-Jo Kim Genome-Wide Association Study Identifies Candidate Loci Associated with Platelet Count in Koreans Genomics & Informatics genome-wide association study Korea platelet count |
| title | Genome-Wide Association Study Identifies Candidate Loci Associated with Platelet Count in Koreans |
| title_full | Genome-Wide Association Study Identifies Candidate Loci Associated with Platelet Count in Koreans |
| title_fullStr | Genome-Wide Association Study Identifies Candidate Loci Associated with Platelet Count in Koreans |
| title_full_unstemmed | Genome-Wide Association Study Identifies Candidate Loci Associated with Platelet Count in Koreans |
| title_short | Genome-Wide Association Study Identifies Candidate Loci Associated with Platelet Count in Koreans |
| title_sort | genome wide association study identifies candidate loci associated with platelet count in koreans |
| topic | genome-wide association study Korea platelet count |
| url | http://genominfo.org/upload/pdf/gni-12-225.pdf |
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