Glaucoma Pred: Glaucoma prediction based on Myocilin genotype and phenotype information

被引:5
作者
Rangachari, K. [1 ]
Bankoti, Namrata [1 ]
Shyamala, N. [1 ]
Michael, Daliah [1 ]
Ahmed, Z. Sameer [1 ]
Chandrasekaran, P. [1 ]
Sekar, K. [1 ]
机构
[1] Indian Inst Sci, Dept Computat & Data Sci, Bangalore 560012, Karnataka, India
关键词
Glaucoma database; Myocilin database; Primary Open Angle Glaucoma (POAG); OPEN-ANGLE GLAUCOMA; POPULATION; PREVALENCE; MUTATIONS; VARIANTS; DISEASE; RISK; EYE;
D O I
10.1016/j.ygeno.2018.04.006
中图分类号
Q81 [生物工程学(生物技术)]; Q93 [微生物学];
学科分类号
071005 ; 0836 ; 090102 ; 100705 ;
摘要
Glaucoma is the second leading cause of blindness after cataract and is heterogeneous in nature. Employing a genetic approach for the detection of the diseased condition provides an advantage that the gene responsible for the disease can be identified by genetic test. The availability of predictive tests based on the published literature would provide a mechanism for early detection and treatment. The genotype and phenotype information could be a valuable source for predicting the risk of the disease. To this end, a web server has been developed, based on the genotype and phenotype of myocilin mutation, which were identified by familial linkage analysis and case studies. The proposed web server provides clinical data and severity index for a given mutation. The server has several useful options to help clinicians and researchers to identify individuals at a risk of developing the disease. Glaucoma Pred server is available at http://bioserver1.physics.iisc.ac.in/myocilin.
引用
收藏
页码:696 / 699
页数:4
相关论文
共 17 条
  • [1] Standardizing mutation nomenclature: Why bother.?
    den Dunnen, JT
    Paalman, MH
    [J]. HUMAN MUTATION, 2003, 22 (03) : 181 - 182
  • [2] Primary open-angle glaucoma genes
    Fingert, J. H.
    [J]. EYE, 2011, 25 (05) : 587 - 595
  • [3] Analysis of myocilin mutations in 1703 glaucoma patients from five different populations
    Fingert, JH
    Héon, E
    Liebmann, JM
    Yamamoto, T
    Craig, JE
    Rait, J
    Kawase, K
    Hoh, ST
    Buys, YM
    Dickinson, J
    Hockey, RR
    Williams-Lyn, D
    Trope, G
    Kitazawa, Y
    Ritch, R
    Mackey, DA
    Alward, WLN
    Sheffield, VC
    Stone, EM
    [J]. HUMAN MOLECULAR GENETICS, 1999, 8 (05) : 899 - 905
  • [4] Reduction of intraocular pressure and glaucoma progression - Results from the early manifest glaucoma trial
    Heijl, A
    Leske, MC
    Bengtsson, B
    Hyman, L
    Bengtsson, B
    Hussein, M
    [J]. ARCHIVES OF OPHTHALMOLOGY, 2002, 120 (10) : 1268 - 1279
  • [5] Complex genetics of complex traits: the case of primary open-angle glaucoma
    Hewitt, Alex W.
    Craig, Jamie E.
    Mackey, David A.
    [J]. CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY, 2006, 34 (05) : 472 - 484
  • [6] Common variants on chromosome 2 and risk of primary open-angle glaucoma in the Afro-Caribbean population of Barbados
    Jiao, Xiaodong
    Yang, Zhenglin
    Yang, Xian
    Chen, Yuhong
    Tong, Zongzhong
    Zhao, Chao
    Zeng, Jiexi
    Chen, Haoyu
    Gibbs, Daniel
    Sun, Xufang
    Li, Bei
    Wakins, W. Scott
    Meyer, Cynthia
    Wang, Xiaolei
    Kasuga, Daniel
    Bedell, Matthew
    Pearson, Erik
    Weinreb, Robert N.
    Leske, M. Cristina
    Hennis, Anselm
    DeWan, Andrew
    Nemesure, Barbara
    Jorde, Lynn B.
    Hoh, Josephine
    Hejtmancik, J. Fielding
    Zhang, Kang
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2009, 106 (40) : 17105 - 17110
  • [7] 'What controls aqueous humour outflow resistance?'
    Johnson, M
    [J]. EXPERIMENTAL EYE RESEARCH, 2006, 82 (04) : 545 - 557
  • [8] THE BARBADOS EYE STUDY - PREVALENCE OF OPEN-ANGLE GLAUCOMA
    LESKE, MC
    CONNELL, AMS
    SCHACHAT, AP
    HYMAN, L
    [J]. ARCHIVES OF OPHTHALMOLOGY, 1994, 112 (06) : 821 - 829
  • [9] Ostwald C, 2000, INT J CANCER, V88, P82, DOI 10.1002/1097-0215(20001001)88:1<82::AID-IJC13>3.0.CO
  • [10] 2-N