| Item type |
文献 / Documents(1) |
| 公開日 |
2023-08-22 |
| アクセス権 |
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アクセス権 |
open access |
| 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 |
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資源タイプ |
journal article |
| 出版社版DOI |
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関連識別子 |
https://doi.org/10.1186/1471-2350-9-22 |
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関連名称 |
10.1186/1471-2350-9-22 |
| 出版タイプ |
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出版タイプ |
VoR |
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出版タイプResource |
http://purl.org/coar/version/c_970fb48d4fbd8a85 |
| タイトル |
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タイトル |
Lack of association of genetic variation in chromosome region 15q14-22.1 with type 2 diabetes in a Japanese population |
| 著者 |
長﨑, 裕加
森谷, 眞紀
棚橋, 俊仁
オサベ, ダイ
ノムラ, キョウコ
フジタ, ユカ
Keshavarz, Parvaneh
クニカ, キヨシ
ナカムラ, ナオト
吉川, 敏一
イチイシ, エイイチロウ
塩田, 洋
安井, 夏生
井上, 寛
板倉, 光夫
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| 抄録 |
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内容記述 |
Background: Chromosome 15q14-22.1 has been linked to type 2 diabetes (T2D) and its related traits in Japanese and other populations. The presence of T2D disease susceptibility variant(s) was assessed in the 21.8 Mb region between D15S118 and D15S117 in a Japanese population using a region-wide case-control association test.
Methods: A two-stage association test was performed using Japanese subjects: The discovery panel (Stage 1) used 372 cases and 360 controls, while an independent replication panel (Stage 2) used 532 cases and 530 controls. A total of 1,317 evenly-spaced, common SNP markers with minor allele frequencies > 0.10 were typed for each stage. Captured genetic variation was examined in HapMap JPT SNPs, and a haplotype-based association test was performed.
Results: SNP2140 (rs2412747) (C/T) in intron 33 of the ubiquitin protein ligase E3 component n-recognin 1 (UBR1) gene was selected as a landmark SNP based on repeated significant associations in Stage 1 and Stage 2. However, the marginal p value (p = 0.0043 in the allelic test, OR = 1.26, 95% CI = 1.07–1.48 for combined samples) was weak in a single locus or haplotype-based association test. We failed to find any significant SNPs after correcting for multiple testing.
Conclusion: The two-stage association test did not reveal a strong association between T2D and any common variants on chromosome 15q14-22.1 in 1,794 Japanese subjects. A further association test with a larger sample size and denser SNP markers is required to confirm these observations. |
| 書誌情報 |
en : BMC Medical Genetics
巻 9,
p. 22,
発行日 2008-03-27
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| 収録物ID |
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収録物識別子タイプ |
ISSN |
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収録物識別子 |
14712350 |
| 収録物ID |
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収録物識別子タイプ |
NCID |
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収録物識別子 |
AA12035063 |
| 出版者 |
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出版者 |
BioMed Central |
| 出版者 |
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出版者 |
Springer Nature |
| 権利情報 |
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権利情報 |
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
| EID |
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識別子 |
398876 |
| 言語 |
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言語 |
eng |
bmcmg_9_22.pdf (560 KB)
