Genetic Diagnosis of Glaucoma

Purpose: Glaucoma, the most prevalent cause of irreversible blindness across the world, is progressive optic nerve degeneration and affection (neuropathy) caused by a mixture of both genetic and environmental factors [1]. The extracellular matrix (ECM) structure of the trabecular Meshwork TM has a major role in intraocular pressure IOP control. Transforming growth factor beta (TGF-β) is a growth factor that plays major roles in cellular functions, including encouraging extracellular matrix synthesis and vascular angiogenesis. TGFβ2 treatment of TM cells alters ECM components [8] and induces ECM bonds.

Aim of the Study: To study the relationship between family history and glaucoma according to genotype and genetic polymorphism.

Methods: Blood collection and DNA extraction Genotyping: TGFB2 Rs99196 genotyping was done using TaqMan SNP genotyping Assay (ID C___8853564_10). StepOne real time PCR system (Applied Biosystem, Ca, USA) was used for amplifiction.

Statistical Analysis: The sample size of the study group was calculated using a program at (www.openepi.com/SampleSize/ SSCC.htm).

Results: Important genotype differences frequencies were detected between the positive family history and negative family history groups for the codominant, dominant, recessive and overdominant inheritance models.

Conclusion: This study recommends that other polymorphisms of genes associated with glaucoma and the analysis of these gene products and their relationship with disease risk factors should be more studied.