Association of CX36 Protein Encoding Gene GJD2 with Refractive Errors

• Published in: Genes Vol. 13; no. 7; p. 1166
• Main Authors: Kunceviciene, Edita, Muskieta, Tomas, Sriubiene, Margarita, Liutkeviciene, Rasa, Smalinskiene, Alina, Grabauskyte, Ingrida, Insodaite, Ruta, Juoceviciute, Dovile, Kucinskas, Laimutis
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 28.06.2022; MDPI
• Subjects: Age; Astigmatism; Astigmatism - epidemiology; computer software; Connexin 36; Connexins; Dopamine; eyes; Gap Junction delta-2 Protein; Gene expression; Gene polymorphism; genes; Genotyping; Haplotypes; Heritability; Humans; Hyperopia - epidemiology; Hyperopia - genetics; Myopia; Myopia - genetics; Photoreceptors; Polymerase chain reaction; Proteins; quantitative polymerase chain reaction; Refractive Errors - genetics; Retina; risk; Single-nucleotide polymorphism; Statistical analysis; Variables; GJD2; astigmatism; RASGRF1; SNPs; myopia; hyperopia; refractive errors
• ISSN: 2073-4425; 2073-4425
• DOI: 10.3390/genes13071166

Purpose: This study aimed to evaluate the associations of GJD2 (rs634990, rs524952) and RASGRF1 (rs8027411, rs4778879, rs28412916) gene polymorphisms with refractive errors. Methods: The study included 373 subjects with refractive errors (48 myopia, 239 myopia with astigmatism, 14 hyperopia, and 72 hyperopia with astigmatism patients) and 104 ophthalmologically healthy subjects in the control group. A quantitative real-time polymerase chain reaction (qPCR) method was chosen for genotyping. Statistical calculations and analysis of results were performed with IBM SPSS Statistics 27 software. Results: The correlations in monozygotic (MZ) twin pairs were higher compared to DZ pairs, indicating genetic effects on hyperopia and astigmatism. The heritability (h2) of hyperopia and astigmatism was 0.654 for the right eye and 0.492 for the left eye. The GJD2 rs634990 TT genotype increased the incidence of hyperopia with astigmatism by 2.4-fold and the CT genotype decreased the incidence of hyperopia with astigmatism by 0.51-fold (p < 0.05). The GJD2 rs524952 AT genotype reduced the incidence of hyperopia with astigmatism by 0.53-fold (p < 0.05). Haplotype analysis of SNPs in the GJD2 gene revealed two statistically significant haplotypes: ACTAGG for rs634990 and TTTAGA for rs524952, which statistically significantly reduced the incidence of hyperopia and hyperopia with astigmatism by 0.41-fold (95% CI: 0.220–0.765) and 0.383-fold (95% CI: 0.199–0.737), respectively (p < 0.05). It was also found that, in the presence of haplotypes ACTAGG for rs634990 and TATAGA for rs524952, the possibility of hyperopia was reduced by 0.4-fold (p < 0.05). Conclusions: the heritability of hyperopia and hyperopia with astigmatism was 0.654–0.492, according to different eyes in patients between 20 and 40 years. The GJD2 rs634990 was identified as an SNP, which has significant associations with the co-occurrence of hyperopia and astigmatism. Patients with the GJD2 gene rs634990 TT genotype were found to have a 2.4-fold higher risk of develop hyperopia with astigmatism.