Association of relative leukocyte telomere length and genetic variants in telomere-related genes (TERT, TERT-CLPTM1, TRF1, TNKS2, TRF2) with atrophic age-related macular degeneration. (4th March 2021)

• Record Type: Journal Article
• Authors: Banevicius, Mantas; Gedvilaite, Greta; Vilkeviciute, Alvita; Kriauciuniene, Loresa; Zemaitiene, Reda; Liutkeviciene, Rasa
• Is Part Of: Ophthalmic genetics. Volume 42:Number 2(2021)
• Page Start: 189
• Page End: 194
• Publication Date: 2021-03-04
• Subjects: Relative leukocyte telomere length -- age-related macular degeneration -- SNP; Eye -- Diseases -- Genetic aspects -- Periodicals; Eye Diseases -- genetics -- Periodicals; Eye Diseases -- in infancy & childhood -- Periodicals; 617.7
• DOI: 10.1080/13816810.2021.1881976
• Languages: English
• ISSNs: 1381-6810

Abstract

ABSTRACT: Background : In an experimental model, telomere shortening inhibits neovascularization. It is thus possible that telomere shortening might have a role in the pathogenesis of geographic atrophy in case of age-related macular degeneration (AMD). This is why we aimed to find any associated differences of telomere length and genetic variants in telomere-related genes ( TERT, TERT-CLPTM1, TRF1, TNKS2, and TRF2 ) in patients with atrophic AMD compared to healthy controls. Methods : The study enrolled patients with atrophic AMD (n = 56) and healthy (n = 73) controls. Samples of DNA from peripheral blood leukocytes were extracted by DNA salting-out method. The genotyping of TERT rs2736098, rs401681 in TERT-CLPTM1 locus, TRF1 rs1545827, rs10107605, TNKS2 rs10509637, rs10509639, and TRF2 rs251796 and relative leukocyte telomere length (T/S) measurement were carried out using a real-time polymerase chain reaction method. The results were assessed using the statistical analysis method of "IBM SPSS Statistics 20.0". Results : We found statistically significantly higher T/S in atrophic AMD patients than in healthy controls (T/S, median (IQR): 1.638 (1.110) vs. 0.764 (0.801), p < .001). Also, statistically significant differences were found in TRF1 rs10107605 allele (A and C) distributions between the atrophic AMD and control groups (88.36% and 11.64% vs. 95.54% and 4.46%, respectively, p = .041), as well as between the short telomere and long telomere groups (86.92% and 13.08% vs. 96.09% and 3.91%, respectively, p = .008). Conclusions : Our research revealed the leukocyte telomere length having a role in atrophic AMD development, also the association between TRF1 rs10107605 and the telomere length.