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Associations of single-nucleotide polymorphisms in Slovenian patients with acute central serous chorioretinopathy
ID Kiraly, Peter (Avtor), ID Zupan, Andrej (Avtor), ID Matjašič, Alenka (Avtor), ID Jaki Mekjavić, Polona (Avtor)

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Izvleček
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.

Jezik:Angleški jezik
Ključne besede:central serous chorioretinopathy, genotype–phenotype correlation, collagen, CSC, COL4A3, COL4A4, CFH, rs1329428, TNFRSF10A, CDH5
Vrsta gradiva:Članek v reviji
Tipologija:1.01 - Izvirni znanstveni članek
Organizacija:MF - Medicinska fakulteta
Status publikacije:Objavljeno
Različica publikacije:Objavljena publikacija
Leto izida:2022
Št. strani:14 str.
Številčenje:Vol. 13, iss. 1, art. 55
PID:20.500.12556/RUL-136811 Povezava se odpre v novem oknu
UDK:616
ISSN pri članku:2073-4425
DOI:10.3390/genes13010055 Povezava se odpre v novem oknu
COBISS.SI-ID:91940099 Povezava se odpre v novem oknu
Datum objave v RUL:23.05.2022
Število ogledov:449
Število prenosov:62
Metapodatki:XML RDF-CHPDL DC-XML DC-RDF
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Gradivo je del revije

Naslov:Genes
Skrajšan naslov:Genes
Založnik:Multidisciplinary Digital Publishing Institute (MDPI)
ISSN:2073-4425
COBISS.SI-ID:523100185 Povezava se odpre v novem oknu

Licence

Licenca:CC BY 4.0, Creative Commons Priznanje avtorstva 4.0 Mednarodna
Povezava:http://creativecommons.org/licenses/by/4.0/deed.sl
Opis:To je standardna licenca Creative Commons, ki daje uporabnikom največ možnosti za nadaljnjo uporabo dela, pri čemer morajo navesti avtorja.
Začetek licenciranja:01.01.2022

Sekundarni jezik

Jezik:Slovenski jezik
Ključne besede:centralna serozna horioretinopatija, korelacija genotip–fenotip, kolagen

Projekti

Financer:ARRS - Agencija za raziskovalno dejavnost Republike Slovenije
Številka projekta:P3-0054
Naslov:Patologija in molekularna genetika

Financer:ARRS - Agencija za raziskovalno dejavnost Republike Slovenije
Številka projekta:P3-0333
Naslov:Očesne bolezni odraslih in otrok

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