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. ? ? Public Health Relevance Statement: The goals of this project are to gain a greater understanding of the genetic basis of the eye disorders myopia and glaucoma. Achievement of this goal requires cooperative efforts and large sample sizes. We have created an international collaboration of large complementary twin studies, from the USA, Australia, and United Kingdom. State-of-the-art molecular genetics and statistical tools will be used to correlate genetic with clinical information using linkage and association approaches. This effort may lead to effective therapies for these potentially blinding disorders. ? ? ?

Agency
National Institute of Health (NIH)
Institute
National Eye Institute (NEI)
Type
Research Project (R01)
Project #
5R01EY018246-02
Application #
7407998
Study Section
Genetics of Health and Disease Study Section (GHD)
Program Officer
Chin, Hemin R
Project Start
2007-05-01
Project End
2010-04-30
Budget Start
2008-05-01
Budget End
2009-04-30
Support Year
2
Fiscal Year
2008
Total Cost
$538,907
Indirect Cost
Name
Duke University
Department
Internal Medicine/Medicine
Type
Schools of Medicine
DUNS #
044387793
City
Durham
State
NC
Country
United States
Zip Code
27705
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Ehret, Georg B (see original citation for additional authors) (2016) The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals. Nat Genet 48:1171-1184
Soler Artigas, María; Wain, Louise V; Miller, Suzanne et al. (2015) Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation. Nat Commun 6:8658
Liu, Fan; Visser, Mijke; Duffy, David L et al. (2015) Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up. Hum Genet 134:823-35
Yazar, Seyhan; Cuellar-Partida, Gabriel; McKnight, Charlotte M et al. (2015) Genetic and environmental factors in conjunctival UV autofluorescence. JAMA Ophthalmol 133:406-12
Gharahkhani, Puya; Burdon, Kathryn P; Hewitt, Alex W et al. (2015) Accurate Imputation-Based Screening of Gln368Ter Myocilin Variant in Primary Open-Angle Glaucoma. Invest Ophthalmol Vis Sci 56:5087-93

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