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Updated: Jul 13, 2026
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Inducement and Evaluation of a Murine Model of Experimental Myopia
Published on: January 22, 2019
Candidate gene and locus analysis of myopia
Donald O Mutti1, Margaret E Cooper, Sarah O'Brien
1College of Optometry, The Ohio State University, Columbus, OH 43210-1240, USA. mutti.2@osu.edu
Molecular Vision
|July 27, 2007
Summary
This study investigated genetic factors in myopia, finding a significant association with COL2A1 but not PAX6. Further research is needed to confirm these findings for common myopia.
Area of Science:
- Ophthalmology
- Genetics
- Molecular Biology
Background:
- Myopia, a common refractive error, has a complex genetic basis.
- Previous studies suggested a linkage but not association between paired box gene 6 (PAX6) and myopia.
- Candidate gene and locus evaluation is crucial for understanding myopia's genetic underpinnings.
Purpose of the Study:
- To replicate previous findings on the association between paired box gene 6 (PAX6) and myopia.
- To evaluate the genetic involvement of candidate genes and loci in common myopia.
- To investigate the role of specific genes (FGF2, BDNF, COL2A1, COL18A1, PAX6) and chromosomal regions in myopia development.
Main Methods:
- Analysis of DNA samples from 517 individuals across 123 families with myopia.
- Genotyping using microsatellite markers and single nucleotide polymorphisms (SNPs).
- Linkage disequilibrium analysis focusing on chromosomes 12 and 18, and candidate genes.
Main Results:
- A significant over-transmission of SNP rs1635529 in COL2A1 on chromosome 12q13.11 to affected individuals (p=0.00007).
- No significant over-transmission was observed for SNPs in FGF2, BDNF, COL18A1, or PAX6 after multiple comparison corrections.
- Chromosomal regions 12 and 18, previously linked to pathological myopia, showed no significant association with common myopia in this cohort.
Conclusions:
- PAX6 shows no association with common myopia, consistent with prior research.
- The findings suggest a potential involvement of COL2A1 in the genetic etiology of myopia.
- Replication in independent cohorts and genome-wide association studies are recommended for further validation.
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