Genes linked to systemic hypertension (HTN) and maturity onset diabetes of the young (MODY) are not associated with primary open angle glaucoma (POAG)

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Purpose: POAG is a complex genetic trait whose etiology is unknown but likely due to a combination of genetic and environmental factors. HTN and adult-onset diabetes mellitus (AODM) have been identified as a risk factors for POAG. Polymorphisms within the genes for angiotensinogen (AGT) and glucokinase (GCK) have been linked to HTN and MODY (a variant of AODM), respectively. Genetic studies were performed on families with POAG using ACT and GCK as candidate genes in order to determine if either or both are associated with POAG.
Methods: Fourteen families with a total of 44 sampled affected individuals were ascertained for POAG by Duke and the New England Medical Centers. POAG was defined as IOP>21 mm Hg OU and glaucomatous optic nerve and visual field loss in one or both eyes. Individuals with other forms of glaucoma were excluded from analysis. All family members were genotyped using polymorphic intragenic markers for AGT (1q42-43) and GCK (7p14-15). Linkage analysis was performed using both model-dependent (LOD score) and model-independent (sibpair and affected pedigree member (APM)) methods.
Results: LOD score analysis excluded tight linkage in these data when assuming either a dominant or recessive genetic model. In addition, there was no significant evidence of linkage with either the sibpair or APM analyses.
Conclusion: POAG does not appear to be associated with AGT or GCK. This does not exclude the possibility that other genes associated with HTN or AODM may be associated with POAG.


This work was published before the author joined Aga Khan University.

Publication (Name of Journal)

Investigative Ophthalmology and Visual Science