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