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J. Harmon, N. Zabriskie, J. Buehler, K. Zhang, J. Goldsmith, G. M. Jones, P. S. Bernstein; Utah Genetics of Ophthalmology Group (UGOP): 2009 Update. Invest. Ophthalmol. Vis. Sci. 2009;50(13):2824.
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© ARVO (1962-2015); The Authors (2016-present)
The UGOP is a unique resource that has many aspects. It contains over 10,000 human samples, which include DNA, cell lines, plasma, vitreous humor, and donor eye tissue. It also contains access to the Utah Population Database, a genealogical resource linked to phenotype data collected in Utah, as reported at ARVO 2006. Since 2006, we have identified familial clusters of new diseases, further characterized and increased our cohort, and begun genotyping on AMD families.
Cohort collection: Large cohorts of samples have been collected at the Moran Eye Center on various eye diseases. Of the 350 POAG samples collected, extensive phenotypic data has been collected on 150 of these patients, including date and IOP measurement at diagnosis, highest IOP measurement, diabetic and hypertensive status, treatment regimens, surgical histories, RNFL thickness, corneal thickness, gonioscopic openness, visual field deviation and cup/disc ratios.UPDB use: We identified families with 7 different eye diseases from the UPDB. A minimum of 3-5 affected individuals were required to be classified as a family.
Table 1 lists the diseases, number of cases and families collected. For glaucoma characterization, the mean IOP on diagnosis was found to be 21.6, IOP at last visit was 16.2, and duration of diagnosis was 10.3 years.
The UGOP is a valuable and unique resource that will continue to contribute to the progress of ophthalmic genetic research. The families identified through the UPDB are useful to help demonstrate heritability and to study outside influences in complex diseases, and the large, homogenous cohorts collected serve as an excellent replication sample set. Much controversy exists over disease risk-related snps identified, and the homogeneity of the Utah families will serve as a valuable tool to evaluate causation and heritability of these haplotypes. Genotyping of 7 large AMD families is currently underway. We view the UGOP as a collaborative resource to be used toward greater understanding of the genetic components of eye diseases.
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