TIGR gene in primary open-angle glaucoma and steroid-induced glaucoma

Area of Science:

• Ophthalmology
• Genetics
• Molecular Biology

Background:

• Primary open-angle glaucoma (POAG) is a significant cause of irreversible blindness.
• Genetic factors are implicated in the etiology of POAG.
• The TIGR gene (also known as MYOC) has been investigated for its role in glaucoma.

Purpose of the Study:

• To investigate TIGR gene mutations in Korean pedigrees with POAG.
• To examine TIGR gene mutations in patients with steroid-induced glaucoma.
• To determine the association of TIGR gene mutations with different forms of glaucoma.

Main Methods:

• Genomic DNA extraction from peripheral blood.
• Polymerase chain reaction (PCR) amplification of the TIGR gene.
• Single-stranded conformation polymorphism (SSCP) and direct DNA sequencing for mutation analysis.

Main Results:

• A proline-to-serine mutation (TCC-to-CCC) in codon 334 of the TIGR gene was identified in familial POAG patients and unaffected siblings.
• This specific TIGR gene mutation was not detected in any of the 25 patients with steroid-induced glaucoma.
• The identified mutation site in familial POAG differed from previously reported TIGR gene mutations.

Conclusions:

• The TIGR gene mutation identified is associated with familial POAG in the studied Korean population.
• The TIGR gene does not appear to be a significant factor in the development of steroid-induced glaucoma.
• Genetic screening of the TIGR gene may aid in identifying individuals at risk for familial POAG.