دورية أكاديمية
أعرض في EDS

Associations of Single-Nucleotide Polymorphisms in Slovenian Patients with Acute Central Serous Chorioretinopathy.

التفاصيل البيبلوغرافية
العنوان: Associations of Single-Nucleotide Polymorphisms in Slovenian Patients with Acute Central Serous Chorioretinopathy.
المؤلفون: Kiraly P; Eye Hospital, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia.; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 9DU, UK., Zupan A; Institute of Pathology, Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, Slovenia., Matjašič A; Institute of Pathology, Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, Slovenia., Mekjavić PJ; Eye Hospital, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia.; Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, Slovenia.; Institute Jožef Stefan, 1000 Ljubljana, Slovenia.
المصدر: Genes [Genes (Basel)] 2021 Dec 25; Vol. 13 (1). Date of Electronic Publication: 2021 Dec 25.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE
أسماء مطبوعة: Original Publication: Basel : MDPI
مواضيع طبية MeSH: Polymorphism, Single Nucleotide*, Antigens, CD/*genetics , Biomarkers/*metabolism , Cadherins/*genetics , Central Serous Chorioretinopathy/*pathology , Receptors, TNF-Related Apoptosis-Inducing Ligand/*genetics, Adult ; Case-Control Studies ; Central Serous Chorioretinopathy/genetics ; Complement Factor H/genetics ; Female ; Fluorescein Angiography ; Follow-Up Studies ; Genetic Association Studies ; Humans ; Male ; Middle Aged ; Prognosis ; Prospective Studies
مستخلص: 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.
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فهرسة مساهمة: Keywords: CDH5; CFH; COL4A3; COL4A4; CSC; TNFRSF10A; central serous chorioretinopathy; collagen; genotype–phenotype correlation; rs1329428
المشرفين على المادة: 0 (Antigens, CD)
0 (Biomarkers)
0 (CFH protein, human)
0 (Cadherins)
0 (Receptors, TNF-Related Apoptosis-Inducing Ligand)
0 (TNFRSF10A protein, human)
0 (cadherin 5)
80295-65-4 (Complement Factor H)
تواريخ الأحداث: Date Created: 20220121 Date Completed: 20220221 Latest Revision: 20220221
رمز التحديث: 20221213
مُعرف محوري في PubMed: PMC8774639
DOI: 10.3390/genes13010055
PMID: 35052395
قاعدة البيانات: MEDLINE
الوصف
تدمد:2073-4425
DOI:10.3390/genes13010055