Genetics of POAG in Hispanics of Mexican Descent

Abstract

Purpose: : Coding variants in both myocilin (MYOC)and optineurin (OPTN)are reported risk factors for POAG in many populations. This study investigated the contribution of MYOC and OPTNcoding variants in Hispanics of Mexican descent with and without POAG.

Methods: : We conducted a case/control study of unrelated POAG cases and non-glaucomatous controls in a population of Hispanics of Mexican descent. Ascertainment criteria for POAG included the presence of glaucomatous optic neuropathy with associated visual field loss and the absence of secondary causes of glaucoma. Controls had normal optic nerves, visual fields, and IOP. All coding exons of MYOC and OPTNwere sequenced.

Results: : The dataset consisted of 88 POAG cases and 94 controls. Several coding variants were identified in MYOC including R7H, G122G, T285T, Y347Y, R76K and K398R. One coding variant (R7H) has not been reported previously. Coding variants were also identified in OPTNincluding T34T and M98K. Two intronic OPTN variants were found: c.374-194_374-193insACAC and c.553T>C. There were no significant differences in the frequencies of coding variants in either MYOC or OPTN between cases and controls.

Conclusions: : This is the first comprehensive study of MYOC and OPTNin Hispanics of Mexican descent with POAG. A novel nonsynonymous coding variant (R7H) in the first exon of MYOC was identified. Other identified variants in MYOC and OPTN have been previously described and do not appear to contribute to POAG risk. Neither MYOC nor OPTN sequence variants appear to play a major role in the etiology of POAG in this population.

Keywords: genetics • candidate gene analysis • mutations