NDLI: COMPLEX GENETICS OF GLAUCOMA SUSCEPTIBILITY

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A PERSONAL SIXTY-YEAR TOUR OF GENETICS AND MEDICINE

COMPLEX GENETICS OF GLAUCOMA SUSCEPTIBILITY

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COMPLEX GENETICS OF GLAUCOMA SUSCEPTIBILITY

Content Provider	Annual Reviews
Author	Libby, Richard T. Gould, Douglas B. Anderson, Michael G. John, Simon W. M.
Description	Author Affiliation: •Jackson Laboratory, Bar Harbor, Maine 04609 (Richard T. Libby, Douglas B. Gould, Simon W.M. John).•Department of Physiology and Biophysics, University of Iowa, Iowa City, Iowa 52242 (Michael G. Anderson).•Howard Hughes Medical Institute, Bar Harbor, Maine 04609(Simon W.M. John).•Department of Ophthalmology, Tufts University School of Medicine, Boston, Massachusetts 02111(Simon W.M. John).
Abstract	Glaucoma describes a group of diseases that kill retinal ganglion cells. There are different types of glaucoma, and each appears to be genetically heterogeneous. Different glaucoma genes have been identified, but these genes account for only a small proportion of glaucoma. Most glaucoma cases appear to be multifactorial, and are likely affected by multiple interacting loci. A number of genetic susceptibility factors have been suggested to contribute to glaucoma. These factors fit into two broad groups, those affecting intraocular pressure and those important in modulating retinal ganglion cell viability. Defining the complex genetics of glaucoma will require significant further study of the human disease and animal models. Genetic approaches are essential and will be enhanced by recently developed genomic and proteomic technologies. These technologies will provide valuable clues about pathogenesis for subsequent testing. In this review, we focus on endogenous genetic susceptibility factors and on how experimental studies will be valuable for dissecting the multifactorial complexity of their interactions.
Starting Page	15
Ending Page	44
Page Count	30
File Format	HTM / HTML PDF
ISSN	15278204
e-ISSN	1545293X
DOI	10.1146/annurev.genom.6.080604.162209
Volume Number	6
Language	English
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Primary open-angle glaucoma Myocilin Optineurin Pigmentary glaucoma Developmental glaucoma
Content Type	Text
Resource Type	Article
Subject	Molecular Biology Genetics Genetics (clinical)

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