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- Title
HTRA1 and CFH Gene Polymorphisms in Turkish Patients with Exudative Age Related Macular Degeneration.
- Authors
ERÇALIK, Yeşim; BARDAK, Handan; GÜNAY, Murat; BARDAK, Yavuz; ÖZBAŞ, Halil; BAĞCI, Özkan
- Abstract
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.
- Subjects
RETINAL degeneration; COMPLEMENT factor H; SINGLE nucleotide polymorphisms; GENES; ENVIRONMENTAL risk
- Publication
Retina-Vitreus/Journal of Retina-Vitreous, 2019, Vol 28, Issue 2, p160
- ISSN
1300-1256
- Publication type
Article