Association of CX36 Protein Encoding Gene GJD2 with Refractive Errors

Area of Science:

• Ophthalmology
• Genetics
• Molecular Biology

Background:

• Refractive errors, including myopia, hyperopia, and astigmatism, are common visual impairments.
• Genetic factors play a significant role in the development of refractive errors, but specific gene associations require further investigation.
• Understanding the genetic basis of refractive errors is crucial for developing targeted prevention and treatment strategies.

Purpose of the Study:

• To investigate the association between polymorphisms in the GJD2 and RASGRF1 genes and refractive errors.
• To determine the heritability of hyperopia and astigmatism.
• To identify specific gene variants and haplotypes linked to the incidence of hyperopia and astigmatism.

Main Methods:

• Genotyping of GJD2 (rs634990, rs524952) and RASGRF1 (rs8027411, rs4778879, rs28412916) gene polymorphisms using quantitative real-time polymerase chain reaction (qPCR).
• Study included 373 patients with refractive errors and 104 healthy controls.
• Statistical analysis performed using IBM SPSS Statistics 27, including heritability estimation and haplotype analysis.

Main Results:

• Heritability estimates for hyperopia and astigmatism were 0.654 (right eye) and 0.492 (left eye), indicating significant genetic influence.
• The GJD2 rs634990 TT genotype was associated with a 2.4-fold increased incidence of hyperopia with astigmatism (p < 0.05).
• Specific GJD2 haplotypes (ACTAGG, TTTAGA, TATAGA) were found to significantly reduce the incidence of hyperopia and hyperopia with astigmatism.

Conclusions:

• The heritability of hyperopia and hyperopia with astigmatism in patients aged 20-40 years ranges from 0.492 to 0.654.
• The GJD2 rs634990 polymorphism is significantly associated with the co-occurrence of hyperopia and astigmatism.
• Genetic variations in the GJD2 gene contribute to the risk of developing hyperopia with astigmatism.