首页> 中文期刊> 《中国科学》 >Genome-wide analysis identified 17 new loci influencing intraocular pressure in Chinese population

Genome-wide analysis identified 17 new loci influencing intraocular pressure in Chinese population

         

摘要

Intraocular pressure(IOP) is a major risk factor for glaucoma. Genetic determinants of intraocular pressure can provide critical insights into the genetic architecture of glaucoma and, as a result, open new avenues for therapeutic intervention. We performed a genome-wide association study and replication analysis of 8,552 Chinese participants. In the genome-wide association study, we identified 51 loci that surpassed the significance of P<9×10-7, and we formally replicated these loci. A combined discovery and replication meta-analysis identified 21 genome-wide loci that surpassed the genome-wide significance of P<5×10-8, including 4 previously reported loci: rs145063132(7 p21.2, ETV1/DGKB), rs548030386(7 q31.2, ST7 near CAV1/CAV2), rs7047871(9 p24.2, GLIS3), and rs2472494(9 q31.1, ABCA1/SLC44 A1). Of the 17 newly identified loci, five were reported to have ocular related phenotypes: PTCH2(rs7525308 in 1 p34.1), LRIF1/DRAM2(rs1282146 in 1 p13.3), COLEC11(rs201143466 in 2 p25.3),SPTBN1(rs4514918 in 2 p16.2), and CRK(rs11078446 in 17 p13.3). The genetic loci identified in this study not only increase our understanding of the genes involved in intraocular pressure but also provide important genetic markers to improve future genetic screening and drug discovery for intraocular pressure disorders.

著录项

  • 来源
    《中国科学》 |2019年第2期|P.153-164|共12页
  • 作者单位

    The Key Laboratory for Human Disease Gene Study of Sichuan Province Sichuan Provincial People’s Hospital School of Medicine University of Electronic Science and Technology of China Chengdu 610072 ChinaInstitute of Chengdu Biology Sichuan Translational Medicine Hospital Chinese Academy of Sciences Chengdu 610072 China;

    Department of Ophthalmology Visual Science Eye and ENT Hospital Shanghai Medical School Fudan University Shanghai 200031 China;

    The Key Laboratory for Human Disease Gene Study of Sichuan Province Sichuan Provincial People’s Hospital School of Medicine University of Electronic Science and Technology of China Chengdu 610072 ChinaInstitute of Chengdu Biology Sichuan Translational Medicine Hospital Chinese Academy of Sciences Chengdu 610072 China;

    Department of Ophthalmology and Visual Sciences The Chinese University of Hong Kong Hong Kong China;

    Department of Ophthalmology Sichuan Academy of Medical Sciences and Sichuan Provincial People’s Hospital Chengdu 610072 China;

    The Key Laboratory for Human Disease Gene Study of Sichuan Province Sichuan Provincial People’s Hospital School of Medicine University of Electronic Science and Technology of China Chengdu 610072 China;

    The Key Laboratory for Human Disease Gene Study of Sichuan Province Sichuan Provincial People’s Hospital School of Medicine University of Electronic Science and Technology of China Chengdu 610072 China;

    The Key Laboratory for Human Disease Gene Study of Sichuan Province Sichuan Provincial People’s Hospital School of Medicine University of Electronic Science and Technology of China Chengdu 610072 China;

    The Key Laboratory for Human Disease Gene Study of Sichuan Province Sichuan Provincial People’s Hospital School of Medicine University of Electronic Science and Technology of China Chengdu 610072 China;

    The Key Laboratory for Human Disease Gene Study of Sichuan Province Sichuan Provincial People’s Hospital School of Medicine University of Electronic Science and Technology of China Chengdu 610072 China;

    The Key Laboratory for Human Disease Gene Study of Sichuan Province Sichuan Provincial People’s Hospital School of Medicine University of Electronic Science and Technology of China Chengdu 610072 China;

    The Key Laboratory for Human Disease Gene Study of Sichuan Province Sichuan Provincial People’s Hospital School of Medicine University of Electronic Science and Technology of China Chengdu 610072 China;

    The Key Laboratory for Human Disease Gene Study of Sichuan Province Sichuan Provincial People’s Hospital School of Medicine University of Electronic Science and Technology of China Chengdu 610072 China;

    The Key Laboratory for Human Disease Gene Study of Sichuan Province Sichuan Provincial People’s Hospital School of Medicine University of Electronic Science and Technology of China Chengdu 610072 China;

    The Key Laboratory for Human Disease Gene Study of Sichuan Province Sichuan Provincial People’s Hospital School of Medicine University of Electronic Science and Technology of China Chengdu 610072 China;

    The Key Laboratory for Human Disease Gene Study of Sichuan Province Sichuan Provincial People’s Hospital School of Medicine University of Electronic Science and Technology of China Chengdu 610072 China;

    The Key Laboratory for Human Disease Gene Study of Sichuan Province Sichuan Provincial People’s Hospital School of Medicine University of Electronic Science and Technology of China Chengdu 610072 China;

    The Key Laboratory for Human Disease Gene Study of Sichuan Province Sichuan Provincial People’s Hospital School of Medicine University of Electronic Science and Technology of China Chengdu 610072 China;

    Department of Ophthalmology and Visual Sciences The Chinese University of Hong Kong Hong Kong China;

    Department of Ophthalmology Visual Science Eye and ENT Hospital Shanghai Medical School Fudan University Shanghai 200031 China;

    The Key Laboratory for Human Disease Gene Study of Sichuan Province Sichuan Provincial People’s Hospital School of Medicine University of Electronic Science and Technology of China Chengdu 610072 ChinaInstitute of Chengdu Biology Sichuan Translational Medicine Hospital Chinese Academy of Sciences Chengdu 610072 China;

  • 原文格式 PDF
  • 正文语种 chi
  • 中图分类 眼压与青光眼;
  • 关键词

    intraocular pressure; glaucoma; genome-wide association study;

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