Associations of Single-Nucleotide Polymorphisms in Slovenian Patients with Acute Central Serous Chorioretinopathy
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-nucleot...
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MDPI AG
2021-12-01
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| author | Peter Kiraly Andrej Zupan Alenka Matjašič Polona Jaki Mekjavić |
| author_facet | Peter Kiraly Andrej Zupan Alenka Matjašič Polona Jaki Mekjavić |
| author_sort | Peter Kiraly |
| collection | DOAJ |
| description | 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 (<i>p</i> = 0.042) between investigated groups and an increased risk for CSC in patients with TC (<i>p</i> = 0.040) and TT (<i>p</i> = 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 (<i>p</i> = 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. |
| first_indexed | 2024-03-10T01:25:44Z |
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| id | doaj.art-47e01b2060f44819b927648c806bef58 |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-10T01:25:44Z |
| publishDate | 2021-12-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-47e01b2060f44819b927648c806bef582023-11-23T13:51:35ZengMDPI AGGenes2073-44252021-12-011315510.3390/genes13010055Associations of Single-Nucleotide Polymorphisms in Slovenian Patients with Acute Central Serous ChorioretinopathyPeter Kiraly0Andrej Zupan1Alenka Matjašič2Polona Jaki Mekjavić3Eye Hospital, University Medical Centre Ljubljana, 1000 Ljubljana, SloveniaInstitute of Pathology, Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, SloveniaInstitute of Pathology, Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, SloveniaEye Hospital, University Medical Centre Ljubljana, 1000 Ljubljana, SloveniaCentral 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 (<i>p</i> = 0.042) between investigated groups and an increased risk for CSC in patients with TC (<i>p</i> = 0.040) and TT (<i>p</i> = 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 (<i>p</i> = 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.https://www.mdpi.com/2073-4425/13/1/55central serous chorioretinopathyCSCgenotype–phenotype correlationcollagenCOL4A3COL4A4 |
| spellingShingle | Peter Kiraly Andrej Zupan Alenka Matjašič Polona Jaki Mekjavić Associations of Single-Nucleotide Polymorphisms in Slovenian Patients with Acute Central Serous Chorioretinopathy Genes central serous chorioretinopathy CSC genotype–phenotype correlation collagen COL4A3 COL4A4 |
| title | Associations of Single-Nucleotide Polymorphisms in Slovenian Patients with Acute Central Serous Chorioretinopathy |
| title_full | Associations of Single-Nucleotide Polymorphisms in Slovenian Patients with Acute Central Serous Chorioretinopathy |
| title_fullStr | Associations of Single-Nucleotide Polymorphisms in Slovenian Patients with Acute Central Serous Chorioretinopathy |
| title_full_unstemmed | Associations of Single-Nucleotide Polymorphisms in Slovenian Patients with Acute Central Serous Chorioretinopathy |
| title_short | Associations of Single-Nucleotide Polymorphisms in Slovenian Patients with Acute Central Serous Chorioretinopathy |
| title_sort | associations of single nucleotide polymorphisms in slovenian patients with acute central serous chorioretinopathy |
| topic | central serous chorioretinopathy CSC genotype–phenotype correlation collagen COL4A3 COL4A4 |
| url | https://www.mdpi.com/2073-4425/13/1/55 |
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