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Genetic Analysis Localizes A Novel Locus On Chromosome 4q For The Glaucoma Endophenotype, Cup-To-Disc Ratio: The Jiri Eye Study, Sarah E. Miller, Nicholas B. Blackburn, Suman S. Thapa, Sandra Laston, Satish Kumar, Juan M. Peralta, Janardan Subedi, John Blangero, Sarah Williams-Blangero, Matthew P. Johnson
Genetic Analysis Localizes A Novel Locus On Chromosome 4q For The Glaucoma Endophenotype, Cup-To-Disc Ratio: The Jiri Eye Study, Sarah E. Miller, Nicholas B. Blackburn, Suman S. Thapa, Sandra Laston, Satish Kumar, Juan M. Peralta, Janardan Subedi, John Blangero, Sarah Williams-Blangero, Matthew P. Johnson
School of Medicine Publications and Presentations
Purpose: Glaucoma is a heterogeneous disease influenced by genetic risk factors. However, not all genetic risk factors have been identified. The aim of this project is to localize genetic factors influencing known glaucoma endophenotypes: intraocular pressure (IOP), central corneal thickness (CCT), and vertical cup-to-disc ratio (VCDR).
Methods: This family-based study design utilizes phenotypic and genomic data from a single well-characterized pedigree residing in the Jiri region of Nepal. Measures of IOP, CCT and VCDR were obtained by Goldmann applanation tonometry, OCT, and slit lamp biomicroscopy, respectively. Using a genome-wide genotype data set (~550,000 SNPs), we performed a genome-wide linkage scan …