Variants in the ASB10 Gene Are Associated with Primary Open Angle Glaucoma.

ABSTRACT:

Background

Recently nonsynonymous coding variants in the ankyrin repeats and suppressor of cytokine signaling box-containing protein 10 (ASB10) gene were found to be associated with primary open angle glaucoma (POAG) in cohorts from Oregon and Germany, but this finding was not confirmed in an independent cohort from Iowa. The aim of the current study was to assess the role of ASB10 gene variants in Pakistani glaucoma patients.

Methods

Sanger sequencing of the coding exons and splice junctions of the ASB10 gene was performed in 30 probands of multiplex POAG families, 208 sporadic POAG patients and 151 healthy controls from Pakistan. Genotypic associations of individual variants with POAG were analyzed with the Fisher's exact or Chi-square test.

Results

In total 24 vari

SUBMITTER: Micheal S 

PROVIDER: S-EPMC4695091 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature