國家衛生研究院 NHRI:Item 3990099045/15171
English  |  正體中文  |  简体中文  |  全文筆數/總筆數 : 12145/12927 (94%)
造訪人次 : 925153      線上人數 : 903
RC Version 6.0 © Powered By DSPACE, MIT. Enhanced by NTU 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
    主頁 ‧ 登入 ‧ 上傳 ‧ 說明 ‧ 關於NHRI ‧ 管理 到手機版


    請使用永久網址來引用或連結此文件: http://ir.nhri.org.tw/handle/3990099045/15171


    題名: Rare variants in long non-coding RNAs are associated with blood lipid levels in the TOPMed Whole Genome Sequencing Study
    作者: Wang, Y;Selvaraj, MS;Li, X;Li, Z;Holdcraft, JA;Arnett, DK;Bis, JC;Blangero, J;Boerwinkle, E;Bowden, DW;Cade, BE;Carlson, JC;Carson, AP;Chen, YI;Curran, JE;de Vries, PS;Dutcher, SK;Ellinor, PT;Floyd, JS;Fornage, M;Freedman, BI;Gabriel, S;Germer, S;Gibbs, RA;Guo, X;He, J;Heard-Costa, N;Hildalgo, B;Hou, L;Irvin, MR;Joehanes, R;Kaplan, RC;Kardia, SL;Kelly, TN;Kim, R;Kooperberg, C;Kral, BG;Levy, D;Li, C;Liu, C;Lloyd-Jone, D;Loos, RJ;Mahaney, MC;Martin, LW;Mathias, RA;Minster, RL;Mitchell, BD;Montasser, ME;Morrison, AC;Murabito, JM;Naseri, T;O'Connell, JR;Palmer, ND;Preuss, MH;Psaty, BM;Raffield, LM;Rao, DC;Redline, S;Reiner, AP;Rich, SS;Ruepena, MS;Sheu, WH;Smith, JA;Smith, A;Tiwari, HK;Tsai, MY;Viaud-Martinez, KA;Wang, Z;Yanek, LR;Zhao, W;Rotter, JI;Lin, X;Natarajan, P;Peloso, GM
    貢獻者: Institute of Molecular and Genomic Medicine
    摘要: Long non-coding RNAs (lncRNAs) are known to perform important regulatory functions. Large-scale whole genome sequencing (WGS) studies and new statistical methods for variant set tests now provide an opportunity to assess the associations between rare variants in lncRNA genes and complex traits across the genome. In this study, we used high-coverage WGS from 66,329 participants of diverse ancestries with blood lipid levels (LDL-C, HDL-C, TC, and TG) in the National Heart, Lung, and Blood Institute (NHLBI) Trans-Omics for Precision Medicine (TOPMed) program to investigate the role of lncRNAs in lipid variability. We aggregated rare variants for 165,375 lncRNA genes based on their genomic locations and conducted rare variant aggregate association tests using the STAAR (variant-Set Test for Association using Annotation infoRmation) framework. We performed STAAR conditional analysis adjusting for common variants in known lipid GWAS loci and rare coding variants in nearby protein coding genes. Our analyses revealed 83 rare lncRNA variant sets significantly associated with blood lipid levels, all of which were located in known lipid GWAS loci (in a ±500 kb window of a Global Lipids Genetics Consortium index variant). Notably, 61 out of 83 signals (73%) were conditionally independent of common regulatory variations and rare protein coding variations at the same loci. We replicated 34 out of 61 (56%) conditionally independent associations using the independent UK Biobank WGS data. Our results expand the genetic architecture of blood lipids to rare variants in lncRNA, implicating new therapeutic opportunities.
    日期: 2023-06-29
    關聯: medRxiv. 2023 Jun 29; Article in Press.
    Link to: http://dx.doi.org/10.1101/2023.06.28.23291966
    顯示於類別:[許惠恒] 期刊論文

    文件中的檔案:

    檔案 描述 大小格式瀏覽次數
    PUB37425772.pdf781KbAdobe PDF111檢視/開啟


    在NHRI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 IR team Copyright ©   - 回饋