Associations of single-nucleotide polymorphisms in Slovenian patients with acute central serous chorioretinopathy

Kiraly, Peter (author), Zupan, Andrej (author), Matjašič, Alenka (author), Jaki Mekjavić, Polona (author)

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.

• Language: English
• Keywords: central serous chorioretinopathy, genotype–phenotype correlation, collagen, CSC, COL4A3, COL4A4, CFH, rs1329428, TNFRSF10A, CDH5
• Work type: Article
• Typology: 1.01 - Original Scientific Article
• Organization: MF - Faculty of Medicine
• Publication status: Published
• Publication version: Version of Record
• Year: 2022
• Number of pages: 14 str.
• Numbering: Vol. 13, iss. 1, art. 55
• PID: 20.500.12556/RUL-136811
• UDC: 616
• ISSN on article: 2073-4425
• DOI: 10.3390/genes13010055
• COBISS.SI-ID: 91940099
• Publication date in RUL: 23.05.2022

Record is a part of a journal

• Title: Genes
• Shortened title: Genes
• Publisher: Multidisciplinary Digital Publishing Institute (MDPI)
• ISSN: 2073-4425
• COBISS.SI-ID: 523100185

Licences

• License: CC BY 4.0, Creative Commons Attribution 4.0 International
• Link: http://creativecommons.org/licenses/by/4.0/
• Description: This is the standard Creative Commons license that gives others maximum freedom to do what they want with the work as long as they credit the author.
• Licensing start date: 01.01.2022

Secondary language

• Language: Slovenian
• Keywords: centralna serozna horioretinopatija, korelacija genotip–fenotip, kolagen

Projects

• Funder: ARRS - Slovenian Research Agency
• Project number: P3-0054
• Name: Patologija in molekularna genetika

• Funder: ARRS - Slovenian Research Agency
• Project number: P3-0333
• Name: Očesne bolezni odraslih in otrok