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Replication study supports CTNND2 as a susceptibility gene for high myopia
Boyu Lu1, Dan Jiang, Panfeng Wang
1State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.
Investigative Ophthalmology & Visual Science
|September 14, 2011
Summary
The CTNND2 gene polymorphism rs6885224 is strongly associated with myopia, with the minor allele showing a protective effect. This finding confirms previous research on CTNND2 and myopia susceptibility.
Area of Science:
- Genetics
- Ophthalmology
- Molecular Biology
Background:
- The CTNND2 gene is located within the MYP16 high myopia linkage interval.
- Previous studies suggested an association between CTNND2 single-nucleotide polymorphisms (SNPs) rs6885224 and rs12716080 and high myopia.
Purpose of the Study:
- To evaluate the association between CTNND2 SNPs (rs6885224 and rs12716080) and myopia in an independent case-control cohort.
- To validate the role of CTNND2 in myopia development.
Main Methods:
- A case-control study involving 2773 individuals (1203 high myopia, 615 moderate myopia, 955 controls).
- Genomic DNA was extracted from venous leukocytes.
- Sanger sequencing was used to genotype SNPs rs6885224 and rs12716080 in CTNND2.
- Allele and genotype frequencies were compared using the chi-squared (χ²) test.
Main Results:
- SNP rs6885224 demonstrated significant genotype and allele frequency differences between high myopia cases and controls (P < 10⁻⁵).
- This SNP also showed significant differences between moderate myopia cases and controls (P < 0.01).
- SNP rs12716080 did not show a statistically significant association with myopia in this cohort.
Conclusions:
- The study confirms a strong association between CTNND2 gene polymorphism and myopia.
- The minor allele C of rs6885224 appears to be protective against myopia, contrasting with a previous study where it was identified as a risk allele.
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