Heritability of myopia and its relation with GDJ2 and RASGRF1 genes in Lithuania

Kuncevičienė, Edita; Sriubienė, Margarita; Liutkevičienė, Rasa; Miceikienė, Ilona Teodora; Smalinskienė, Alina

doi:10.1186/s12886-018-0787-1

Cited by 10 publications

(3 citation statements)

References 23 publications

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“…Defects in the RASGRF1 gene cause impaired regulation of retinol and muscarinic receptors, resulting in impaired visual development and increased risk of high myopia [16,17]. Kunceviciene et al [18] found that the RASGRF1 gene was associated with the heritability of myopia, in which the rs8027411GT type carriers were 2.7fold more likely to develop myopia, similar to the results of the present study, suggesting that the focus should be on the rs8033417 locus C carriers and timely and efective preventive measures should be given to slow down the development of myopia.…”

Section: Discussionmentioning

confidence: 99%

Correlation between High Myopia Susceptibility and Polymorphisms of RASGRF1 Gene among College Students in Zhejiang

Yi¹,

Dai²,

Ma³

et al. 2023

Journal of Environmental and Public Health

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Objective. The aim of the study is to analyze the correlation between high myopia susceptibility and Ras protein-specific guanine nucleotide-releasing factor-1(RASGRF1) gene polymorphism among college students in Zhejiang. Methods. A stratified whole-group sampling method was used to select 218 cases of college students in Zhejiang who met the inclusion and exclusion criteria from January, 2019, to December, 2021, and they were divided into 77 cases (154 eyes) in the high myopia group and 141 cases (282 eyes) in the medium-low myopia group according to the degree of myopia, and 109 cases of college volunteers without myopia from the same period of medical examination in the region were included in the control group. The single nucleotide polymorphisms (SNPs) located in functional regions were selected by searching the literature and genetic databases, and the base sequences of rs939658, rs4778879, and rs8033417 loci were obtained by genotyping candidate SNPs using multiplex ligase detection reaction technique. The cardinality test was used to compare the differences in genotype frequency distribution of each locus of the RASGRF1 gene between the high myopia group and the low to moderate myopia group and the control group. Results. The genotype frequencies and allele frequencies of the RASGRF1 gene rs939658 locus in the high myopia group compared with the moderate-low myopia group and the control group were not statistically significant P > 0.05 . The genotype frequencies and allele frequencies of the rs4778879 locus of the RASGRF1 gene were compared among the three groups, and the differences were not statistically significant P > 0.05 . The genotype frequency and allele frequency of the rs8033417 locus of the RASGRF1 gene differed significantly among the three groups P < 0.05 . Conclusion. The polymorphism of the rs8033417 locus of the RASGRF1 gene was significantly correlated with the susceptibility of high myopia among college students in Zhejiang.

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Section: Discussionmentioning

confidence: 99%

Correlation between High Myopia Susceptibility and Polymorphisms of RASGRF1 Gene among College Students in Zhejiang

Yi¹,

Dai²,

Ma³

et al. 2023

Journal of Environmental and Public Health

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“…Similar disruptions are mirrored in zebrafish, where elimination of Cx36 homologs results in delayed responses to threatening stimuli and motor coordination defects . These behavioral defects in animal models lacking a broad class of electrical synapses are exactly what the field of neurodevelopment would expect for genes linked to disease phenotypes (Mas et al, 2004;Hempelmann et al, 2006;Solouki et al, 2010;Li et al, 2015;Kunceviciene et al, 2018). Namely, that many disorders of neurodevelopment result not in large effects with gross dysfunction, but instead are comprised of subtle molecular differences that slightly shift the functional outcomes.…”

Section: Discussionmentioning

confidence: 83%

Understanding the Molecular and Cell Biological Mechanisms of Electrical Synapse Formation

2020

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In this review article, we will describe the recent advances made towards understanding the molecular and cell biological mechanisms of electrical synapse formation. New evidence indicates that electrical synapses, which are gap junctions between neurons, can have complex molecular compositions including protein asymmetries across joined cells, diverse morphological arrangements, and overlooked similarities with other junctions, all of which indicate new potential roles in neurodevelopmental disease. Aquatic organisms, and in particular the vertebrate zebrafish, have proven to be excellent models for elucidating the molecular mechanisms of electrical synapse formation. Zebrafish will serve as our main exemplar throughout this review and will be compared with other model organisms. We highlight the known cell biological processes that build neuronal gap junctions and compare these with the assemblies of adherens junctions, tight junctions, non-neuronal gap junctions, and chemical synapses to explore the unknown frontiers remaining in our understanding of the critical and ubiquitous electrical synapse.

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“…Researchers have found that astigmatism has a strong genetic basis, with astigmatism accounting for 50–60% of the predominant genetic effects compared to additive, common, or unique components [ 20 ]. In one of our publications, it was announced that the heritability of myopia in Lithuania is 0.66 [ 21 ]. However, heritability studies do not determine which genes are relevant to the onset of refractive errors.…”

Section: Discussionmentioning

confidence: 99%

Association of CX36 Protein Encoding Gene GJD2 with Refractive Errors

Kuncevičienė

Muskieta

Sriubienė

et al. 2022

Genes

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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.

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Heritability of myopia and its relation with GDJ2 and RASGRF1 genes in Lithuania

Cited by 10 publications

References 23 publications

Correlation between High Myopia Susceptibility and Polymorphisms of RASGRF1 Gene among College Students in Zhejiang

Correlation between High Myopia Susceptibility and Polymorphisms of RASGRF1 Gene among College Students in Zhejiang

Understanding the Molecular and Cell Biological Mechanisms of Electrical Synapse Formation

Association of CX36 Protein Encoding Gene GJD2 with Refractive Errors

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