English  |  正體中文  |  简体中文  |  全文筆數/總筆數 : 56826/90592 (63%)
造訪人次 : 12116787      線上人數 : 147
RC Version 7.0 © Powered By DSPACE, MIT. Enhanced by NTU Library & TKU Library IR team.
搜尋範圍 查詢小技巧:
  • 您可在西文檢索詞彙前後加上"雙引號",以獲取較精準的檢索結果
  • 若欲以作者姓名搜尋,建議至進階搜尋限定作者欄位,可獲得較完整資料
  • 進階搜尋
    請使用永久網址來引用或連結此文件: http://tkuir.lib.tku.edu.tw:8080/dspace/handle/987654321/118662


    題名: Genetic Architecture Associated With Familial Short Stature
    作者: Lin, Ying-Ju;Cheng, Chi-Fung;Wang, Chung-Hsing;Liang, Wen-Miin;Tang, Chih-Hsin;Tsai, Li-Ping;Chen, Chien-Hsiun;Wu, Jer-Yuarn;Hsieh, Ai-Ru;Lee, Ming Ta Michael;Lin, Ting-Hsu;Liao, Chiu-Chu;Huang, Shao-Mei;Zhang, Yanfei;Tsai, Chang-Hai;Tsai, Fuu-Jen
    關鍵詞: GWAS;Han Chinese ancestry;familial short stature;human height;polygenic trait
    日期: 2020-06
    上傳時間: 2020-06-01 12:11:55 (UTC+8)
    摘要: Context: Human height is an inheritable, polygenic trait under complex and multilocus genetic regulation. Familial short stature (FSS; also called genetic short stature) is the most common type of short stature and is insufficiently known.

    Objective: To investigate the FSS genetic profile and develop a polygenic risk predisposition score for FSS risk prediction.

    Design and setting: The FSS participant group of Han Chinese ancestry was diagnosed by pediatric endocrinologists in Taiwan.

    Patients and interventions: The genetic profiles of 1163 participants with FSS were identified by using a bootstrapping subsampling and genome-wide association studies (GWAS) method.

    Main outcome measures: Genetic profile, polygenic risk predisposition score for risk prediction.

    Results: Ten novel genetic single nucleotide polymorphisms (SNPs) and 9 reported GWAS human height-related SNPs were identified for FSS risk. These 10 novel SNPs served as a polygenic risk predisposition score for FSS risk prediction (area under the curve: 0.940 in the testing group). This FSS polygenic risk predisposition score was also associated with the height reduction regression tendency in the general population.

    Conclusion: A polygenic risk predisposition score composed of 10 genetic SNPs is useful for FSS risk prediction and the height reduction tendency. Thus, it might contribute to FSS risk in the Han Chinese population from Taiwan.
    關聯: The Journal of Clinical Endocrinology and Metabolism 105(6)
    DOI: 10.1210/clinem/dgaa131
    顯示於類別:[統計學系暨研究所] 期刊論文

    文件中的檔案:

    檔案 描述 大小格式瀏覽次數
    index.html0KbHTML30檢視/開啟

    在機構典藏中所有的資料項目都受到原著作權保護.

    TAIR相關文章

    DSpace Software Copyright © 2002-2004  MIT &  Hewlett-Packard  /   Enhanced by   NTU Library & TKU Library IR teams. Copyright ©   - 回饋