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Assessing Early Stage Open-Angle Glaucoma in Patients by Isolated-Check Visual Evoked Potential
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No association between OPA1 polymorphisms and primary open-angle glaucoma in three different populations.

Yutao Liu1, Silke Schmidt, Xuejun Qin

  • 1Center for Human Genetics, Duke University Medical Center, Durham, NC, USA.

Molecular Vision
|December 15, 2007
PubMed
Summary

Genetic variations in the optic atrophy 1 gene (OPA1) were not linked to primary open-angle glaucoma (POAG) with high eye pressure in Caucasian, African-American, and Ghanaian populations. This study found no OPA1 gene association with elevated intraocular pressure in POAG patients.

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Area of Science:

  • Ophthalmology
  • Genetics
  • Glaucoma Research

Background:

  • Primary open-angle glaucoma (POAG) is a leading cause of irreversible blindness worldwide.
  • The optic atrophy 1 gene (OPA1) has been implicated in other forms of optic neuropathy.
  • Investigating OPA1 gene polymorphisms is crucial for understanding POAG pathogenesis.

Purpose of the Study:

  • To determine if specific OPA1 gene polymorphisms (rs10451941 and rs166850) are associated with primary open-angle glaucoma (POAG) characterized by elevated intraocular pressure.
  • To analyze this association across diverse populations: Caucasian, African-American, and Ghanaian.

Main Methods:

  • Genotyping of two OPA1 single nucleotide polymorphisms (SNPs) using TaqMan assays in 279 Caucasian, 193 African-American, and 170 Ghanaian POAG cases and their respective controls.
  • Comparison of allele, genotype, and haplotype frequencies between POAG cases and controls within each population.
  • Analysis of age-of-onset distribution in relation to OPA1 genotypes in Caucasian POAG patients.

Main Results:

  • No statistically significant differences were observed in OPA1 allele or genotype frequencies at the studied SNPs (rs10451941 and rs166850) between POAG patients and controls in any of the three populations.
  • Haplotype analysis did not reveal any significant association between OPA1 gene variations and POAG.
  • The age of POAG onset in Caucasian patients was not found to be dependent on the genotypes at the rs10451941 SNP.

Conclusions:

  • The investigated OPA1 gene polymorphisms (rs10451941 and rs166850) are not associated with POAG presenting with elevated intraocular pressure.
  • This study provides the first OPA1 association analysis for high-tension glaucoma in African-American and Ghanaian populations.
  • The potential role of OPA1 in POAG may be restricted to normal-tension glaucoma subtypes in these populations.