Abstract

DO.07.01

Genetic of PEX-Syndrome/Glaucoma

Pasutto F.
Institut für Humangenetik, Erlangen

Pseudoexfoliation glaucoma (PEXG) is the most common identifiable cause of open-angle glaucoma worldwide. The underlying defect, pseudoexfoliation syndrome (PEX), is an age-related systemic disease of the extracellular matrix, characterized by pathological accumulation of abnormal fibrillar material in the anterior segment of the eye. Both population- and pedigree-based studies have shown that genetic factors contribute to its pathogenesis. A number of nongenetic factors have also been evaluated for their possible implication in the development of PEX. These include ultraviolet light, autoimmunity, slow virus infection and trauma. This suggests that a combination of both genetic and nongenetic factors is involved in the etiology and pathogenesis of PEX classifying it as complex multifactorial genetic disorder. Recently two common sequence variants (SNPs) in the lysyl oxidase-like 1 (LOXL1) gene were found to be associated with both PEX and PEXG in populations from Iceland and Sweden. In our study, we set out to confirm and extend this association in PEX and PEXG cohorts of German and Italian origin by genotyping a total of 726 unrelated PEX /PEXG patients and 418 healthy subjects. Results of our analysis will be presented as well as a short summary about the meaning of complex genetic diseases and their association with common SNPs.

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