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全基因组关联研究确定了与韩国人血小板计数相关的候选基因座。

Genome-wide association study identifies candidate Loci associated with platelet count in koreans.

作者信息

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

机构信息

Division of Structural and Functional Genomics, National Institute of Health, Cheongwon 363-951, Korea.

出版信息

Genomics Inform. 2014 Dec;12(4):225-30. doi: 10.5808/GI.2014.12.4.225. Epub 2014 Dec 31.

DOI:10.5808/GI.2014.12.4.225
PMID:25705162
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4330258/
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 × 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.

摘要

血小板源自骨髓巨核细胞（一种形状不规则的小型无核细胞）细胞质形成的碎片。血小板对血管损伤做出反应，使血管收缩，并附着于受损区域，从而与血液凝固因子共同作用来止血。已知血小板激活会影响与血管危险因素以及动脉硬化和心肌梗死相关的基因。在此，我们对韩国协会资源（KARE）项目的8842名受试者中分型的352228个单核苷酸多态性进行了全基因组关联研究，并在来自独立人群的7861名受试者中重复了结果。我们确定了血小板计数与4号染色体p16.1附近的常见变异（在KIAA0232基因中，p = 1.46 × 10(-10)）、6号染色体p21（在BAK1基因中，p = 1.36 × 10(-7)）以及12号染色体q24.12（在SH2B3基因中，p = 1.11 × 10(-15)）之间的遗传关联。我们的结果说明了大规模发现的价值以及为若干新研究途径提供了重点。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5bcb/4330258/0af9e1b98e6a/gni-12-225-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5bcb/4330258/0963a48cb61d/gni-12-225-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5bcb/4330258/dc27adc029a0/gni-12-225-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5bcb/4330258/0af9e1b98e6a/gni-12-225-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5bcb/4330258/0963a48cb61d/gni-12-225-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5bcb/4330258/dc27adc029a0/gni-12-225-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5bcb/4330258/0af9e1b98e6a/gni-12-225-g003.jpg

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