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Retina Arter Tıkanıklıkları ve Tedavisi...
Santral Retinal Ven Tıkanıklığı Güncel Tedavisi...
Central Retinal Artery Occlusion As the Cause of Unilateral Concentric Narrowing of Visual Field and Presence of Cilioretinal Artery...
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Central Retinal Artery Occlusion As the Cause of Unilateral Concentric Narrowing of Visual Field and Presence of Cilioretinal Artery...
Retina Arter Tıkanıklıkları ve Tedavisi...
Morning Glory Syndrome Associated with Retinochoroidal Coloboma...
Santral Retinal Ven Tıkanıklığı Güncel Tedavisi...
Bilateral Optic Disc Drusen
PureSee Kesintisiz Yüksek Kalitede Görüş
Retina-Vitreous 2019 , Vol 28 , Num 2
Turkish Abstract Abstract Free Full Text Similar Articles Mail to Author
HTRA1 and CFH Gene Polymorphisms in Turkish Patients with Exudative Age Related Macular Degeneration
Yeşim ERÇALIK1, Handan BARDAK1, Murat GÜNAY2, Yavuz BARDAK3, Halil ÖZBAŞ4, Özkan BAĞCI4
1Uz. Dr., Haydarpaşa Numune Eğt. Arş. Hastanesi, Göz, İstanbul, Türkiye
2Uz. Dr., Zeynep Kamil Kadın Hastalıkları ve Çocuk Kliniği, Göz, İstanbul, Türkiye
3Prof. Dr., Haydarpaşa Numune Eğt. Arş. Hastanesi, Göz, İstanbul, Türkiye
4Uz. Dr., Süleyman Demirel Üniversitesi Tıp Fakültesi, Genetik, Isparta, Türkiye
Purpose: To investigate the genes HTRA serine peptidase1 (HTRA1) and complement factor H (CFH) in Turkish patients with exudative age-related macular degeneration (AMD).

Materials and Methods: This study included 39 exudative AMD patients and 250 healthy individuals with exome sequencing data as a control group. Patients with known environmental and systemic risk factors for AMD were excluded. Genomic DNA was isolated from peripheral blood and analyzed using next-generation sequencing. All coding exons of the HTRA1 gene and selected exons (3, 9 and 10) of the CFH gene were analyzed.

Results: Sequence analysis of the CFH gene identified two genetic variations in the study group. Our results identified these variations as polymorphisms rs1061170 (H402Y) and rs2274700 (A473A). Additionally, rs369149111 (A20V) polymorphism, in which a non-synonymous amino acid exchange in exon 1 of the HTRA1 gene was detected. This non-synonymous exchange was a single nucleotide polymorphism and did not lead to a pathological condition based on PolyPhen and SIFT analyses.

Conclusion: The study showed that heterozygous variations of the risk alleles of rs1061170 (H402Y) and rs2274700 (A473A) polymorphisms of the CFH gene were associated with AMD risk, compared to the homozygous variant of the normal allele in Turkish patients. Keywords : Age-related macular degeneration, gene polymorphism

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