Associations of Single-Nucleotide Polymorphisms in Slovenian Patients with Acute Central Serous Chorioretinopathy
| Autor: | Peter Kiraly, Andrej Zupan, Alenka Matjašič, Polona Jaki Mekjavić |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Adult
Male collagen COL4A3 QH426-470 korelacija genotip–fenotip Polymorphism Single Nucleotide Article CSC central serous chorioretinopathy genotype–phenotype correlation COL4A4 CFH rs1329428 TNFRSF10A CDH5 Antigens CD Genetics Humans Prospective Studies Fluorescein Angiography centralna serozna horioretinopatija Genetic Association Studies Genetics (clinical) Middle Aged Cadherins Prognosis udc:616 Receptors TNF-Related Apoptosis-Inducing Ligand Case-Control Studies Complement Factor H kolagen Female Biomarkers Follow-Up Studies |
| Zdroj: | Genes; Volume 13; Issue 1; Pages: 55 Genes, Vol 13, Iss 55, p 55 (2022) Genes Genes, vol. 13, no. 1, 55, 2022. |
| ISSN: | 2073-4425 |
| DOI: | 10.3390/genes13010055 |
| Popis: | Central serous chorioretinopathy (CSC) is a chorioretinal disease that usually affects the middle-aged population and is characterised by a thickened choroid, retinal pigment epithelium detachment, and subretinal fluid with a tendency towards spontaneous resolution. We investigated 13 single-nucleotide polymorphisms (SNPs) in 50 Slovenian acute CSC patients and 71 healthy controls in Complement Factor H (CFH), Nuclear Receptor Subfamily 3 Group C Member 2 (NR3C2), Cadherin 5 (CDH5) Age-Related Maculopathy Susceptibility 2 (ARMS2), TNF Receptor Superfamily Member 10a (TNFRSF10A), collagen IV alpha 3 (COL4A3) and collagen IV alpha 4 (COL4A4) genes using high-resolution melt analysis. Statistical calculations revealed significant differences in genotype frequencies for CFH rs1329428 (p = 0.042) between investigated groups and an increased risk for CSC in patients with TC (p = 0.040) and TT (p = 0.034) genotype. Genotype–phenotype correlation analysis revealed that CSC patients with CC genotype in CFH rs3753394 showed a higher tendency for spontaneous CSC episode resolution at 3 months from the disease onset (p = 0.0078), which could indicate clinical significance of SNP testing in CSC patients. Bioinformatics analysis of the non-coding polymorphisms showed alterations in transcription factor binding motifs for CFH rs3753394, CDH5 rs7499886 and TNFRSF10A rs13278062. No association of collagen IV polymorphisms with CSC was found in this study. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|