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J.H. Baird, D. Adams, L. Han, N. Zabriskie, P.S. Bernstein, S. Kamaya, Z. Yang, J. Hu, K. Zhang; Genetic Study of Glaucoma and Age–Related Macular Degeneration using the Utah Population Database . Invest. Ophthalmol. Vis. Sci. 2005;46(13):3810.
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Purpose: Age–related macular degeneration (AMD) and primary open–angle glaucoma (POAG) are two leading causes of blindness in the US and the developed world. Genetic predisposition plays an important role in AMD and glaucoma, but identification of genes for these two conditions has been hampered by the multi–factorial nature of the disease. The Utah Population Database (UPDB) was created by the University of Utah and contains over 20 million records. It is made up of many data sets including genealogies, birth and death certificates, and drivers’ license data. There are two major data sets from which family members can be identified: 1.6 million genealogy records and 1.8 million Utah birth certificates. The genealogy records can encompass as many as ten generations. Methods: We searched the medical record database of the University of Utah Hospitals and Clinics and identified patients with AMD (ICD9 code 362.51 for dry AMD; 362.52 for choroidal neovascularization and wet AMD) and glaucoma (ICD9 codes 365.04 and 365.11.) We then performed cross–match analysis with genealogy records at the UPDB to identify and recruit extended families with clustering of AMD and glaucoma. Results: We identified 5,172 AMD and 4,328 POAG patients from 1.5 million medical records. Cross–matching and clustering analyses with the UPDB identified 15 extended large families with AMD and 14 with POAG using our criteria of having five or more living affected members within each family. We have also established B lymphoblastoid cell lines for 312 AMD patients, 47 POAG patients, and 215 normal age–matched controls. Conclusions: We have identified large pedigrees with multiple affected members with AMD and POAG. The possibility of underlying genetic heterogeneity for disease often lessens enthusiasm for linkage studies. In the face of genetic heterogeneity represented by multiple genes for a single disorder, the importance of extended pedigrees with large numbers of affected patients becomes apparent. The resources established will aid greatly in our effort to identify genes for AMD and POAG.
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