Linkage and association analyses of glaucoma related traits in a large pedigree from a Dutch genetically isolated population

Despite extensive research on the genetic determinants of glaucoma, the genes identified to date explain only a small proportion of cases in the general population. We performed genome-wide linkage and association analyses of many glaucoma-related quantitative traits. We identified a new region of significant linkage supported by association on chromosome 20p13 (near the SIRPA and RNF24/PANK2 loci) for parameters of the neuroretinal rim. In addition, we suggested common genetic control of the retinal nerve fiber layer thickness and the vertical cup-to-disc ratio by SIX1 and doublecotin family genes and replicated association signals for RERE, LRP1B, CDC7, TGFBR3, and ATOH7 loci. (By Prof. Tatiana I. Axenovich, http://jmg.bmj.com/content/early/2011/11/05/jmedgenet-2011-100436.abstract?papetoc )

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