Abstract
A case-control genetic association study was performed to investigate whether variant rs7916697 in atonal bHLH transcription factor 7 (ATOH7), which has been previously reported to be associated with optic disc parameters and primary open angle glaucoma (POAG) in different ethnic groups, is a risk factor for POAG or any of its clinical phenotypes in a Saudi cohort. Genotyping of rs7916697 (G>A) variant was performed in 186 unrelated POAG cases and 171 unrelated nonglaucomatous controls of Saudi origin using real-time Taq-Man® assay. Genotypic and allelic association with POAG and its related clinical indices were evaluated. Demographic and systemic disease status did not differ significantly between POAG cases and controls. Association analysis between POAG cases and controls showed no significant genotype effect under additive (p=0.707), dominant (p=0.458), and recessive (p=0.554) models. Besides, the minor ‘A' allele frequency was 0.39 in POAG cases and 0.36 in controls with no significant distribution (p=0.406). In addition, there was no significant difference between genotypes and clinical phenotypes such as intraocular pressure and cup/disc ratio within the POAG group, or any age and sex adjusted genotype effect on the disease outcome in regression analysis. Variant rs7916697 in ATOH7 is not associated with POAG or its clinical indices such as IOP and cup/disc ratio in a Saudi cohort.
Highlights
With an estimated heritability of 0.81 [1], primary open angle glaucoma (POAG) follows a complex multi-factorial inheritance pattern involving both genetics and environmental factors [2]
A suggestive protective association was noted for rs7916697 in AfroCaribbean Barbados population in POAG [13] indicating Atonal bHLH transcription factor (ATOH) as an important susceptibility gene associated with glaucoma and optic disc parameters
A total of 357 participants consisting of 186 POAG cases and 171 nonglaucomatous controls were included in this study
Summary
With an estimated heritability of 0.81 [1], primary open angle glaucoma (POAG) follows a complex multi-factorial inheritance pattern involving both genetics and environmental factors [2]. Mice retinal progenitor cells have been demonstrated to express Atoh [6] and its regulation by Pax in embryonic retina [7] is clinically relevant because PAX gene mutations have been associated with various optic nerve abnormalities in humans [8]. Have previously reported strong association between optic disk parameters and variant rs7916697 near ATOH in an Australian twin cohort [6], the Rotterdam study [9], and Singapore Asians [10] and very recently in Latino population [11]. A suggestive protective association was noted for rs7916697 in AfroCaribbean Barbados population in POAG [13] indicating ATOH as an important susceptibility gene associated with glaucoma and optic disc parameters. Despite strong evidence for involvement of ATOH in pathogenesis of POAG the exact molecular mechanism(s) leading to glaucomatous damage of the optic nerve and the possibility of any interaction of ATOH with other risk factors is still largely unknown
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