Variants in the WDR36 Gene Are Not Associated With Open Angle Glaucoma in a Large Cohort of Patients From Iowa

Abstract

Purpose: : An open angle glaucoma locus (GLC1G) on chromosome 5q22 was recently identified and the WDR36 gene was reported to be the glaucoma–causing gene in this locus. One sequence variant in the WDR36 gene (D658G) was identified in glaucoma patients at a significantly higher frequency than in control subjects. We attempted to confirm this finding.

Methods: : A total of 393 POAG patients and 365 control subjects from Iowa were screened for sequence variations in the WDR36 gene. Single strand conformation polymorphism (SSCP) analysis and automated DNA sequencing were used to detect sequence changes in the 4 exons of WDR36 that contain the previously identified variants (exons 8, 11, 13, and 17).

Results: : The D658G variant was identified in 5 of 393 POAG patients (1.3%) and in 5 of 365 control subjects (1.4%) in our Iowa cohort (p=1). Other WDR36 variations were also detected, but were not detected in patients at a statistically higher frequency than in controls.

Conclusions: : Variants in the WDR36 gene (including D658G) are not associated with POAG in our study of a large cohort of patients and controls from Iowa.

Keywords: gene screening • genetics • mutations