Complement Component C3 Variant (R102G) and the Risk of Neovascular Age-Related Macular Degeneration in a Tunisian Population
| Autor: | Leila El Matri, Rim Limaiem, Ahmed Chebil, Taieb Ben Abdallah, Fedra Kort, Imen Sfar, Imen Habibi, Yousr Gorgi, S. Ayed, Rim Bouraoui |
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| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Genetic Markers Male medicine.medical_specialty Pathology Tunisia genetic structures Eye disease Biology Gastroenterology Polymorphism Single Nucleotide Risk Assessment Sensitivity and Specificity law.invention Neovascularization 03 medical and health sciences Macular Degeneration 0302 clinical medicine law Internal medicine Genotype medicine Humans Genetic Predisposition to Disease Allele Polymerase chain reaction Genetic Association Studies Aged Aged 80 and over Complement component 3 Incidence Reproducibility of Results Complement C3 Macular degeneration Middle Aged medicine.disease eye diseases Ophthalmology 030104 developmental biology Mutation 030221 ophthalmology & optometry Female sense organs medicine.symptom Nephelometry |
| Zdroj: | Klinische Monatsblatter fur Augenheilkunde. 234(4) |
| ISSN: | 1439-3999 |
| Popis: | Purpose To explore the association between the polymorphism (S/F) p.R102G in the complement component 3 (C3) gene and age-related macular degeneration (AMD) in a Tunisian population. Methods The molecular study was performed by polymerase chain reaction using sequence-specific primers (PCR-SSP) in 207 control subjects free of any eye disease (fundus normal) and 145 patients with exudative AMD. The CH50 activity and quantification of C3 and C4 have been made by technical home method and nephelometry, respectively. Results The prevalence of C3 GG genotype polymorphism was significantly higher in AMD patients compared to controls (OR: 2.41, IC 95% [1.90–3.05], p = 0.0007). However, no correlation was found between this allelic variant and the type of neovascularization. Similarly, there is no association between this polymorphism and the presence of functional and/or quantitative hypocomplementemia. Conclusions The C3 GG genotype of the gene could be a susceptibility factor for AMD in the Tunisian population. However, it does not seem to influence the clinical profile of the disease. |
| Databáze: | OpenAIRE |
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