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This doctoral thesis investigates the potential role of E-cadherin gene polymorphisms in the genetic susceptibility to endometriosis among Japanese women. The researchers analyzed twelve single nucleotide polymorphisms in 511 patients, predominantly with stages III and IV disease, and compared them against 498 healthy controls using real-time PCR. The study found a marginal association between the rs4783689 C allele and endometriosis, suggesting that E-cadherin may contribute to the invasive characteristics of endometriotic cells through epithelial-mesenchymal transition mechanisms. Although the authors acknowledge that the sample size limits the statistical power of these findings, the results highlight a specific genetic variant linked to the condition. This paper is centrally about endometriosis — specifically examining the genetic susceptibility associated with E-cadherin polymorphisms in a Japanese cohort.
Abstract
Background: Endometriotic cells display invasive characteristics despite their benign histological appearance. Recently, the epithelial-mesenchymal transition,in which epithelial cells acquire mesenchymal and migratory properties, has attracted attention as a mechanism of tumor invasion. We aimed to investigate the association between endometriosis and polymorphisms of the E-cadherin gene, a central player in the epithelial-mesenchymal transition,in Japanese women. Methods: Twelve single nucleotide polymorphisms (SNPs) in the E-cadherin gene were identified by real-time PCR using a TaqMan assay in 511 women with endometriosis (the majority in stages III and IV) and 498 healthy controls. Results: Allel e frequency analysis indicated that there was a marginally higher frequency of the rs4783689 C allele in women with endometriosis compared wit h controls (corrected p = 0.007 ; odds ratio = 1.37; 95% confidence interval, 1.14 to 1.64). No significant associations with endometriosis were found for the other eleven SNPs. Conclusions: Although this study was limited by sample size , the E-cadherin gene polymorphism rs4783689 was marginally associated with endometriosis in the Japanese population, suggesting that E-cadherin might be involved in genetic susceptibility to endometriosis.
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アイテム
子宮内膜症に対する遺伝的感受性とE-カドヘリン遺伝子の関与の可能性
http://hdl.handle.net/10191/0002001598
http://hdl.handle.net/10191/00020015989cfeb748-e397-4eef-aa18-73850cd2bd5e
| 名前 / ファイル | ライセンス | アクション |
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本文 (1.4 MB)
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要旨 (299.9 KB)
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| アイテムタイプ | 学位論文 / Thesis or Dissertation(1) | |||||||||
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| 公開日 | 2025-04-14 | |||||||||
| タイトル | ||||||||||
| タイトル | Possible involvement of the E-cadherin gene in genetic susceptibility to endometriosis | |||||||||
| 言語 | en | |||||||||
| タイトル | ||||||||||
| タイトル | 子宮内膜症に対する遺伝的感受性とE-カドヘリン遺伝子の関与の可能性 | |||||||||
| 言語 | ja | |||||||||
| 言語 | ||||||||||
| 言語 | eng | |||||||||
| キーワード | ||||||||||
| 言語 | en | |||||||||
| 主題Scheme | Other | |||||||||
| 主題 | E-cadherin | |||||||||
| キーワード | ||||||||||
| 言語 | en | |||||||||
| 主題Scheme | Other | |||||||||
| 主題 | cadherin | |||||||||
| キーワード | ||||||||||
| 言語 | en | |||||||||
| 主題Scheme | Other | |||||||||
| 主題 | polymorphism | |||||||||
| キーワード | ||||||||||
| 言語 | en | |||||||||
| 主題Scheme | Other | |||||||||
| 主題 | endometriosis | |||||||||
| キーワード | ||||||||||
| 言語 | en | |||||||||
| 主題Scheme | Other | |||||||||
| 主題 | epithelial-mesenchymal transition | |||||||||
| 資源タイプ | ||||||||||
| 資源 | http://purl.org/coar/resource_type/c_db06 | |||||||||
| タイプ | doctoral thesis | |||||||||
| アクセス権 | ||||||||||
| アクセス権 | open access | |||||||||
| アクセス権URI | http://purl.org/coar/access_right/c_abf2 | |||||||||
| 著者 |
吉田, 邦彦
× 吉田, 邦彦
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| 抄録 | ||||||||||
| 内容記述タイプ | Abstract | |||||||||
| 内容記述 | Background: Endometriotic cells display invasive characteristics despite their benign histological appearance. Recently, the epithelial-mesenchymal transition,in which epithelial cells acquire mesenchymal and migratory properties, has attracted attention as a mechanism of tumor invasion. We aimed to investigate the association between endometriosis and polymorphisms of the E-cadherin gene, a central player in the epithelial-mesenchymal transition,in Japanese women. Methods: Twelve single nucleotide polymorphisms (SNPs) in the E-cadherin gene were identified by real-time PCR using a TaqMan assay in 511 women with endometriosis (the majority in stages III and IV) and 498 healthy controls. Results: Allel e frequency analysis indicated that there was a marginally higher frequency of the rs4783689 C allele in women with endometriosis compared wit h controls (corrected p = 0.007 ; odds ratio = 1.37; 95% confidence interval, 1.14 to 1.64). No significant associations with endometriosis were found for the other eleven SNPs. Conclusions: Although this study was limited by sample size , the E-cadherin gene polymorphism rs4783689 was marginally associated with endometriosis in the Japanese population, suggesting that E-cadherin might be involved in genetic susceptibility to endometriosis. | |||||||||
| 言語 | en | |||||||||
| 内容記述 | ||||||||||
| 内容記述タイプ | Other | |||||||||
| 内容記述 | Kunihiko Yoshida, Kosuke Yoshihara, Sosuke Adachi, Kazufumi Haino, Koji Nishino, Masayuki Yamaguchi, Nobumichi Nishikawa, Katsunori Kashima, Tetsuro Yahata, Hideaki Masuzaki, Hidetaka Katabuchi, Kenichiro Ikuma, Hiroshi Suginami, Kenichi Tanaka, Possible involvement of the E-cadherin gene in genetic susceptibility to endometriosis, Human Reproduction, Volume 27, Issue 6, June 2012, Pages 1685–1689, https://doi.org/10.1093/humrep/des080 | |||||||||
| 言語 | en | |||||||||
| 内容記述 | ||||||||||
| 内容記述タイプ | Other | |||||||||
| 内容記述 | This article has been accepted for publication in Human Reproduction Published by Oxford University Press. | |||||||||
| 言語 | en | |||||||||
| item_6_relation_14 | ||||||||||
| 関連タイプ | isVersionOf | |||||||||
| 識別子タイプ | DOI | |||||||||
| 関連識別子 | https://doi.org/10.1093/humrep/des080 | |||||||||
| 権利 | ||||||||||
| 権利情報 | © Crown copyright 2012 | |||||||||
| 言語 | en | |||||||||
| 学位名 | ||||||||||
| 学位名 | 博士（医学） | |||||||||
| 言語 | ja | |||||||||
| item_6_degree_grantor_49 | ||||||||||
| 学位授与機関識別子Scheme | kakenhi | |||||||||
| 学位授与機関識別子 | 13101 | |||||||||
| 学位授与機関名 | 新潟大学 | |||||||||
| 言語 | ja | |||||||||
| 学位授与機関名 | Niigata University | |||||||||
| 言語 | en | |||||||||
| 学位授与年月日 | ||||||||||
| 学位授与年月日 | 2024-03-25 | |||||||||
| dissertation_number | ||||||||||
| 学位授与番号 | 乙第2275号 | |||||||||
| item_6_description_53 | ||||||||||
| 内容記述タイプ | Other | |||||||||
| 内容記述 | 新大博（医）第1829号 | |||||||||
| 言語 | ja |
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