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Published on: February 21, 2016
Keratoconus is not associated with mutations in COL8A1 and COL8A2
Anthony J Aldave1, Nirit Bourla, Vivek S Yellore
1Jules Stein Eye Institute, University of California, Los Angeles, CA, USA. aldave@jsei.ucla.edu
Cornea
|August 28, 2007
Summary
This study found no pathogenic mutations in COL8A1 and COL8A2 genes in patients with keratoconus or keratoglobus. This suggests other genetic factors contribute to these corneal ectatic disorders.
Area of Science:
- Ophthalmology
- Genetics
- Molecular Biology
Background:
- Corneal ectatic disorders, such as keratoconus and keratoglobus, are complex conditions.
- The genetic basis for these disorders is not fully understood.
- Collagen genes, including COL8A1 and COL8A2, have been investigated for their potential role.
Purpose of the Study:
- To investigate the role of COL8A1 and COL8A2 genes in the pathogenesis of keratoconus and keratoglobus.
- To screen for mutations in these genes in patients diagnosed with corneal ectatic disorders.
Main Methods:
- DNA was extracted from 52 patients (50 with keratoconus, 2 with keratoglobus).
- Polymerase chain reaction amplification and sequencing were used to analyze COL8A1 and COL8A2 genes.
- Sequence variations were identified and characterized.
Main Results:
- No sequence variations were found in COL8A1 and COL8A2 in the keratoglobus patients.
- A known single nucleotide polymorphism (SNP) in COL8A1 was identified in one keratoconus patient.
- Seven known SNPs and four novel variants in COL8A2 were identified in keratoconus patients; none predicted to affect splicing.
Conclusions:
- The absence of pathogenic mutations in COL8A1 and COL8A2 in keratoconus patients suggests these genes are not primary contributors.
- Further research is needed to identify other genetic factors involved in keratoconus pathogenesis.
- The findings contribute to understanding the genetic landscape of corneal ectatic disorders.
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