NEI:Myopia and Glaucoma Risk Factors at CIDR
Ontology highlight
ABSTRACT:
PROVIDER: PRJNA75493 | ENA |
REPOSITORIES: ENA
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Project description:<p>Myopia and glaucoma are highly prevalent ophthalmic disorders worldwide and contribute significantly to ocular morbidity. There
is substantial evidence that genetic factors play a significant role in the development of non-syndromic myopia and glaucoma. We propose to
perform mapping studies for well-characterized twin populations in the United Kingdom and Australia in order to ultimately identify implicated
genes for these disorders and related ocular parameters. This will provide a fundamental molecular understanding of how these disorders
develop, and may lead to directed physiologic (i.e. pharmacologic, gene therapy) interventions.</p>
<p>Our aim is to dissect the genetic basis of the eye disorders myopia and glaucoma. Instead of limited analyses of the trait/disease in
a dichotomous manner, we are using continuous phenotypes of measures of refraction and intermediate phenotypes of glaucoma to analyze quantitative
traits in unselected population samples of volunteer twins. Achievement of this goal requires cooperative efforts and large sample sizes.
Thus, we have created an international collaboration of large complementary studies.</p>
| phs000142 | dbGaP
Project description:<p>Myopia and glaucoma are highly prevalent ophthalmic disorders worldwide and contribute significantly to ocular morbidity. There
is substantial evidence that genetic factors play a significant role in the development of non-syndromic myopia and glaucoma. We propose to
perform mapping studies for well-characterized twin populations in the United Kingdom and Australia in order to ultimately identify implicated
genes for these disorders and related ocular parameters. This will provide a fundamental molecular understanding of how these disorders
develop, and may lead to directed physiologic (i.e. pharmacologic, gene therapy) interventions.</p>
<p>Our aim is to dissect the genetic basis of the eye disorders myopia and glaucoma. Instead of limited analyses of the trait/disease in
a dichotomous manner, we are using continuous phenotypes of measures of refraction and intermediate phenotypes of glaucoma to analyze quantitative
traits in unselected population samples of volunteer twins. Achievement of this goal requires cooperative efforts and large sample sizes.
Thus, we have created an international collaboration of large complementary studies.</p>
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Project description:NEI CIDR GWAS for Exfoliation Syndrome and Glaucoma
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Project description:NEI CIDR GWAS for Exfoliation Syndrome and Glaucoma
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Project description:<p>This is a case-control study of primary open angle glaucoma (POAG). POAG is an intraocular pressure (IOP) related progressive optic neuropathy that ultimately leads to blindness. For this study we have formed a collaborative consortium contributing 2170 POAG cases and 2347 controls with a unified definition of POAG (the NEIGHBOR consortium: <b>NEI G</b>laucoma <b>H</b>uman genetic colla<b>BOR</b>ation). The case definition has also been harmonized with an additional 976 cases and 1140 controls from the NHGRI supported GENEVA (gene-environment) study of glaucoma (GLAUGEN) (NIH/NHGRI U01HG004728, Pasquale PI).</p> <p>Cases and controls were recruited from ophthalmology clinics and were examined by ophthalmologists. For cases, the clinical exam included intraocular pressure measurements, optic nerve assessment and visual field evaluation. Controls had no family history of glaucoma, normal intraocular pressure and normal optic nerves. Cases and controls were also drawn from two clinical trial populations: Advanced Glaucoma Intervention Study (AGIS, NEI U10EY006827, D. Gaasterland PI) and Collaborative Initial Glaucoma Treatment Study (CIGTS, NEI U10 EY009149, P. Lichter PI).</p> <p>The NEIGHBOR consortium has two Co-Principal Investigators: J. Wiggs (Harvard, MEEI), and M. Hauser (Duke). The consortium includes eleven different centers where data collection and analysis take place. The eleven sites and investigators are: Harvard Medical School (Massachusetts Eye and Ear Infirmary) (J. Wiggs, L. Pasquale); Duke University Medical Center (M. Hauser, E. Hauser, R. Allingham, S. Schmidt); University of Michigan (J. Richards, S. Moroi, P. Lichter); University of Miami (M. Pericak-Vance, R. Lee, D. Budenz); Vanderbilt University (J. Haines); University of California San Diego (K. Zhang, R. Weinreb; T. Gaasterland); University of Pittsburgh (J. Schuman, G. Wollstein); University of West Virginia (A. Realini, J. Charlton, S. Zareparsi); Johns Hopkins University (D. Friedman, D. Zack); Stanford University (D. Vollrath, K. Singh), Eye Doctors of Washington (D. Gaasterland). Hemin Chin serves as the NEI Staff Collaborator. This national collaborative study is supported by multiple NIH grants: NEI R01 EY015543 (Allingham); NEI U10 EY006827 (D. Gaasterland); NHLBI R01 HL073389 (E. Hauser); NEI R01 EY13315 (M. Hauser); NEI U10 EY009149 (Lichter); NEI R01 EY015473 (Pasquale); NEI U10 EY012118 (Pericak-Vance); NEI R03 EY015682 (Realini); NEI R01 EY011671 (Richards); NEI R01 EY09580 (Richards); NEI R01 EY013178 (Schuman); NEI R01 EY015872 (Wiggs); NEI R01 EY009847 (Wiggs); NEI R01 EY010886 (Wiggs); NEI R01 EY144428 (Zhang); NEI R01 EY144448 (Zhang); NEI R01 EY18660 (Zhang). Funding support for genotyping, which was performed at the Johns Hopkins University Center for Inherited Disease Research, was provided by the National Eye Institute (X01HG005259). </p>
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Project description:NEI CIDR Methylation Profiling of Primary Open Angle Glaucoma
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Project description:NEI CIDR Methylation Profiling of Primary Open Angle Glaucoma
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