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| ファイル | 記述 | サイズ | フォーマット | |
|---|---|---|---|---|
| s41598-017-02299-7.pdf | 1.79 MB | Adobe PDF | 見る/開く |
| タイトル: | Association of SIX1/SIX6 locus polymorphisms with regional circumpapillary retinal nerve fibre layer thickness: The Nagahama study |
| 著者: | Yoshikawa, Munemitsu Yamashiro, Kenji Nakanishi, Hideo Miyata, Manabu    https://orcid.org/0000-0002-7574-1749 (unconfirmed)Miyake, Masahiro Hosoda, Yoshikatsu Tabara, Yasuharu Matsuda, Fumihiko Yoshimura, Nagahisa Nagahama Study Group |
| 著者名の別形: | 吉川, 宗光 山城, 健児 中西, 秀雄 宮田, 学 三宅, 正裕 細田, 祥勝 田原, 康玄 松田, 文彦 吉村, 長久 |
| キーワード: | Genetic predisposition to disease Genetics research Optic nerve diseases |
| 発行日: | 29-Jun-2017 |
| 出版者: | Springer Nature |
| 誌名: | Scientific Reports |
| 巻: | 7 |
| 論文番号: | 4393 |
| 抄録: | SIX1 and SIX6 are glaucoma susceptibility genes. Previous reports indicate that the single nucleotide polymorphism (SNP) rs33912345 in SIX6 is associated with inferior circumpapillary retinal nerve fibre layer (cpRNFL) thickness (cpRNFLT). Although the region of visual field defect in glaucoma patients is directly related to cpRNFL thinning, a detailed sector analysis has not been performed in genetic association studies. In the present study, we evaluated 26 tagging SNPs in the SIX1/SIX6 locus ±50 kb region in a population of 2, 306 Japanese subjects with 4- and 32-sector cpRNFLT analysis. While no SNPs showed a significant association with cpRNFLT in the 4-sectored analysis, the finer 32-sector assessment clearly showed a significant association between rs33912345 in the SIX1/SIX6 locus with inferior cpRNFL thinning at 292.5–303.8° (β = −4.55, P = 3.0 × 10−5). Furthermore, the fine-sectored cpRNFLT analysis indicated that SIX1/SIX6 polymorphisms would affect cpRNFL thinning at 281.3–303.8°, which corresponds to parafoveal scotoma in a visual field test of glaucoma patients. |
| 著作権等: | © The Author(s) 2017. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. |
| URI: | http://hdl.handle.net/2433/228141 |
| DOI(出版社版): | 10.1038/s41598-017-02299-7 |
| PubMed ID: | 28663559 |
| 出現コレクション: | 学術雑誌掲載論文等 |
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