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Angle Closure Glaucoma: Treatment01:28

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In open-angle glaucoma, the iridocorneal angle remains open, but the trabecular meshwork becomes stiff, slowing down the outflow of aqueous humor. This causes a buildup of aqueous humor in the anterior chamber, leading to a sudden increase in intraocular pressure. The treatment for open-angle glaucoma focuses on reducing the elevated intraocular pressure by either decreasing the secretion of aqueous humor or increasing its outflow.
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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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Related Experiment Video

Updated: Jan 28, 2026

Assessing Early Stage Open-Angle Glaucoma in Patients by Isolated-Check Visual Evoked Potential
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COL11A1 Polymorphisms Are Associated with Primary Angle-Closure Glaucoma Severity.

Yani Wan1,2, Shengjie Li1,2, Yanting Gao1,2

  • 1Department of Clinical Laboratory, Eye & ENT Hospital, Shanghai Medical College, Fudan University, Shanghai 200032, China.

Journal of Ophthalmology
|February 28, 2019
PubMed
Summary
This summary is machine-generated.

Genetic variations in the COL11A1 gene, specifically SNPs rs1676484, rs3753841, and rs12138977, are associated with primary angle-closure glaucoma (PACG). These COL11A1 gene polymorphisms may also indicate disease severity in PACG patients.

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Area of Science:

  • Ophthalmology
  • Genetics
  • Molecular Biology

Background:

  • Primary angle-closure glaucoma (PACG) is a significant cause of irreversible blindness worldwide.
  • Genetic factors play a crucial role in the pathogenesis of PACG.
  • Identifying specific genes and their polymorphisms associated with PACG is essential for understanding disease mechanisms and developing targeted therapies.

Purpose of the Study:

  • To investigate the association between single-nucleotide polymorphisms (SNPs) in the PLEKHA7 and COL11A1 genes and primary angle-closure glaucoma (PACG).
  • To evaluate the correlation of these genetic variations with the severity of PACG.
  • To identify potential genetic risk factors for PACG development and progression.

Main Methods:

  • Genotyping of 12 SNPs in the PLEKHA7 and COL11A1 genes in 51 PACG cases and 51 controls using direct Sanger sequencing.
  • Comparison of allele and genotype frequencies between cases and controls, and among mild, moderate, and severe PACG subgroups.
  • Statistical analyses including Student's t-tests, chi-square tests, and binary logistic regression to determine significant associations and odds ratios.

Main Results:

  • Three SNPs in the COL11A1 gene (rs1676486, rs3753841, and rs12138977) showed a significant association with PACG.
  • Subgroup analysis revealed that rs1676486, rs12138977, and rs3753841 were significantly associated with moderate to severe PACG.
  • No significant associations were found for the studied PLEKHA7 SNPs.

Conclusions:

  • Polymorphisms in the COL11A1 gene, specifically rs1676484, rs3753841, and rs12138977, may serve as potential gene-dependent risk factors for PACG.
  • COL11A1 rs1676484 and rs12138977 polymorphisms might be linked to the severity of PACG.
  • Further research is warranted to validate these findings and explore their clinical implications.