| Item type |
学術雑誌論文 / Journal Article(1) |
| 公開日 |
2018-05-10 |
| タイトル |
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|
タイトル |
Common and rare variant association study for plasma lipids and coronary artery disease |
| 言語 |
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言語 |
eng |
| 資源タイプ |
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資源タイプ識別子 |
http://purl.org/coar/resource_type/c_6501 |
|
資源タイプ |
journal article |
| ID登録 |
|
|
ID登録 |
10.24517/00050285 |
|
ID登録タイプ |
JaLC |
| 著者 |
Tada, Hayato
Kawashiri, Masa-aki
Konno, Tetsuo
Yamagishi, Masakazu
Hayashi, Kenshi
|
| 著者別表示 |
多田, 隼人
川尻, 剛照
今野, 哲雄
山岸, 正和
林, 研至
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| 提供者所属 |
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内容記述タイプ |
Other |
|
内容記述 |
金沢大学医薬保健研究域医学系 |
| 書誌情報 |
Journal of Atherosclerosis and Thrombosis
巻 23,
号 3,
p. 241-256,
発行日 2016
|
| ISSN |
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収録物識別子タイプ |
ISSN |
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収録物識別子 |
1340-3478 |
| NCID |
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収録物識別子タイプ |
NCID |
|
収録物識別子 |
AA11018976 |
| DOI |
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関連タイプ |
isIdenticalTo |
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識別子タイプ |
DOI |
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関連識別子 |
10.5551/jat.31393 |
| 出版者 |
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出版者 |
Japan Atherosclerosis Society = 日本動脈硬化学会 |
| 抄録 |
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内容記述タイプ |
Abstract |
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内容記述 |
Blood lipid levels are highly heritable and modifiable risk factors for coronary artery disease (CAD), and are the leading cause of death worldwide. These facts have motivated human genetic association studies that have the substantial potential to define the risk factors that are causal and to identify pathways and therapeutic targets for lipids and CAD. The success of the HapMap project that provided an extensive catalog of human genetic variations and the development of microarray based genotyping chips (typically containing variations with allele frequencies ＞5%) facilitated common variant association study (CVAS; formerly termed genomewide association study, GWAS) identifying disease-associated variants in a genome-wide manner. To date, 157 loci associated with blood lipids and 46 loci with CAD have been successfully identified, accounting for approximately 12%– 14% of heritability for lipids and 10% of heritability for CAD. However, there is yet a major challenge termed “missing heritability problem,” namely the observation that loci detected by CVAS explain only a small fraction of the inferred genetic variations. To explain such missing portions, focuses in genetic association studies have shifted from common to rare variants. However, it is challenging to apply rare variant association study (RVAS) in an unbiased manner because such variants typically lack the sufficient number to be identified statistically. In this review, we provide a current understanding of the genetic architecture mostly derived from CVAS, and several updates on the progress and limitations of RVAS for lipids and CAD. © 2016, Japan Atherosclerosis Society. All rights reserved. |
| 内容記述 |
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内容記述タイプ |
Other |
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内容記述 |
出版者照会後に全文公開 |
| 権利 |
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|
権利情報 |
Copyright © Japan Atherosclerosis Society 日本動脈硬化学会 |
| 著者版フラグ |
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|
出版タイプ |
VoR |
|
出版タイプResource |
http://purl.org/coar/version/c_970fb48d4fbd8a85 |
| 関連URI |
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識別子タイプ |
URI |
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関連識別子 |
https://www.jstage.jst.go.jp/browse/jat/-char/en |
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関連名称 |
https://www.jstage.jst.go.jp/browse/jat/-char/en |
| 関連URI |
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識別子タイプ |
URI |
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関連識別子 |
http://www.j-athero.org/ |
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関連名称 |
http://www.j-athero.org/ |
ME-PR-YAMAGISHI-M-241.pdf (1.5 MB)
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