Association of Extracellular Signal-Regulated Kinase Genes With Myopia: A Longitudinal Study of Chinese Children

Xiao, Haishao; Lin, Shudan; Jiang, Dandan; Lin, Yaoyao; Liu, Linjie; Zhang, Qiqi; He, Jian‐Qing; Chen, Yanyan

doi:10.3389/fgene.2021.654869

Cited by 10 publications

(8 citation statements)

References 62 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In this study, the genotype frequency and allele frequency of SNP rs939658 and rs4778879 of the RASGRF1 gene between the myopia group and the control group were not significantly different, but the genotype frequencies and allele frequencies of the rs8033417 locus of the RASGRF1 gene were significantly different between the two groups, in which the risk of high myopia was significantly higher in C allele carriers than in T allele carriers, indicating that the C allele of the rs8033417 locus was associated with myopia. The RASGRF1 gene, a protein-coding gene localized at 15q25.1, is highly expressed in neurons and the retina, and its expression is regulated by retinol and muscarinic receptors and plays an important role in retinal function and enhanced visual process [ 14 , 15 ]. 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 ].…”

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

View full text Add to dashboard Cite

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.

show abstract

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

View full text Add to dashboard Cite

show abstract

“…In retinal ganglia and photoreceptors, the ERK signaling pathway is one of the downstream cascades of DA receptors that control myopia progression [20, 21]. pERK levels can be used to assess D2R-mediated signal transduction [22].…”

Section: Discussion/conclusionmentioning

confidence: 99%

7-Methylxanthine Influences the Behavior of ADORA2A-DRD2 Heterodimers in Human Retinal Pigment Epithelial Cells

Fan

Huang

et al. 2022

Ophthalmic Res

View full text Add to dashboard Cite

Introduction: The goal of this study was to investigate the presence of ADORA2A-DRD2 heterodimers in human RPE cells; determine if 7-methylxanthine (7-MX), a non-selective adenosine receptor antagonist which was used to control myopia progression can influence the behavior of retinal pigment epithelial (RPE) cells through the ADORA2A-DRD2 receptor pathway, and assess the changes in the expression of signaling molecules during cellular signal transduction. Methods: Human RPE cells were cultured in vitro in the presence or absence of 7-MX. Cell proliferation was evaluated with the CCK-8 assay. Apoptosis and necrosis rates were determined by annexin V–FITC/propidium iodide (PI) staining and flow cytometry. Immunofluorescence and coimmunoprecipitation were used to examine the protein expression and colocalization of ADORA2A and DRD2 in RPE cells. ADORA2A and DRD2 were knocked down with small interfering RNAs (siRNAs). Changes in the protein expression of ERK1/2 and phospho-ERK1/2 (pERK 1/2), which are signaling molecules downstream of dopamine (DA) receptors, were evaluated by western blot analysis. Results: Immunofluorescence and coimmunoprecipitation showed that ADORA2A and DRD2 were colocalized in RPE cells. The expression of ADORA2A in RPE cells was inhibited by treatment with 50 µmol/l 7-MX for 48 h, and the expression of DRD2, ERK1/2, and pERK1/2 was increased after treatment with 50 µmol/l 7-MX for 48 h. After siRNA-mediated knockdown of DRD2 in RPE cells and further treatment with 50 µmol/l 7-MX for 48 h, the expression of DRD2 was nearly restored to the level observed in the native control. At the experimental concentrations, 7-MX and siRNAs did not affect the proliferation or apoptosis of human RPE cells. Conclusions: ADORA2A and DRD2 heterodimers were present in RPE cells. 7-MX may affect the behaviors of RPE cells through the ADORA2A-DRD2 receptor pathway. 7-MX is an inhibitor of ADORA2A receptors that can prevent inhibition of the D2 receptor pathway and increase D2 receptor pathway activity. This phenomenon may explain the mechanism of action through which 7-MX can control myopia progression.

show abstract

“…Genetic studies on high-grade myopia indeed pointed to a strong association with a missense mutation (rs3803036) in PTPRR (Hawthorne et al, 2013) and meta-analyses of PTPRR variant rs11178469 also revealed a relationship with visual refractive errors (Tedja et al, 2018). However, these associations of myopia or ocular parameters with PTPRR were not supported by studies involving Japanese (Yoshikawa et al, 2014) and Chinese (Xiao et al, 2021) cohorts. Expansion of data and inclusion of additional ethnic groups may clarify this putative contribution of PTPRR to myopia risk factors.…”

Section: Ptpn5 Ptpn7 and Ptprrmentioning

confidence: 98%

Hereditable variants of classical protein tyrosine phosphatase genes: Will they prove innocent or guilty?

Hendriks

Cruchten

Pulido

2023

Front. Cell Dev. Biol.

View full text Add to dashboard Cite

Protein tyrosine phosphatases, together with protein tyrosine kinases, control many molecular signaling steps that control life at cellular and organismal levels. Impairing alterations in the genes encoding the involved proteins is expected to profoundly affect the quality of life—if compatible with life at all. Here, we review the current knowledge on the effects of germline variants that have been reported for genes encoding a subset of the protein tyrosine phosphatase superfamily; that of the thirty seven classical members. The conclusion must be that the newest genome research tools produced an avalanche of data that suggest ‘guilt by association’ for individual genes to specific disorders. Future research should face the challenge to investigate these accusations thoroughly and convincingly, to reach a mature genotype-phenotype map for this intriguing protein family.

show abstract

Association of Extracellular Signal-Regulated Kinase Genes With Myopia: A Longitudinal Study of Chinese Children

Abstract: Graphical AbstractThe genes in the miRNA-target gene network represent the intersection of the target genes and the genes from String that had direct or indirect interaction relationships with significant genes.

Cited by 10 publications

References 62 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

7-Methylxanthine Influences the Behavior of ADORA2A-DRD2 Heterodimers in Human Retinal Pigment Epithelial Cells

Hereditable variants of classical protein tyrosine phosphatase genes: Will they prove innocent or guilty?

Contact Info

Product

Resources

About