Myocilin Variants in Primary Open–Angle Glaucoma: a perspective from the Northwest Regions of the USA and Greece.

Abstract

Abstract: : Purpose: Primary open–angle glaucoma is a complex disease that results from both genetic and environmental factors. To assess the incidence of myocilin variants in the Northwest populations of the USA and Greece, we screened for base pair changes in this gene. Methods: DNA was obtained from over 800 individuals from the Northwestern regions of the US and Greece following the tenets of the Helsinki declaration under the auspices of the OH&SU IRB. Forty–one POAG US families and one large Greek family were surveyed. In addition 60 Greek and 133 US random POAG patients were screened for variations in the myocilin exon 3 sequence detected by the Transgenomic Wave^TM dHPLC system. Results:Twelve sequence changes in exon 3 of myocilin were identified. Eight of these resulted in a change in amino acid sequence in the olfactomedin domain. Three of the US families and the Greek family had nonconserved changes, including K380H, T377M and Q368X. These are only counted once for each family in the table below. Myocilin Variants 

Conclusions:The incidence of MYOC disease–causing mutations is 6 and 1.4% in the Northwest populations of the US and Greece, respectively.

Keywords: mutations • clinical (human) or epidemiologic studies: prevalence/incidence • genetics