Association between relative telomere length and a genetic variant of SIRT1 gene and age-related macular degeneration
<p> <b>L.K. Moshetova<sup>1</sup>, O.P. Dmitrenko<sup>2</sup>, O.I. Abramova<sup>1</sup>, N.S. Karpova<sup>2</sup>, K.I. Turkina<sup>1</sup>, I.N. Saburina<sup>2,3</sup></b> </p> <p> <b><...
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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | Russian |
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Prime-Media
2021-09-01
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| Series: | РМЖ "Клиническая офтальмология" |
| Online Access: | http://clinopht.com/upload/iblock/439/4391851642d3250bd84664630bcebf3d.pdf |
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| Summary: | <p>
<b>L.K. Moshetova<sup>1</sup>, O.P. Dmitrenko<sup>2</sup>, O.I. Abramova<sup>1</sup>, N.S. Karpova<sup>2</sup>, K.I. Turkina<sup>1</sup>, I.N. Saburina<sup>2,3</sup></b>
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<b><sup>1</sup>Russian Medical Academy of Continuous Professional Education, Moscow, Russian Federation</b>
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<b><sup>2</sup>Research Institute of General Pathology and Pathophysiology, Moscow, Russian Federation</b>
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<b><sup>3</sup>Research Institute of Molecular and Personalized Medicine, Moscow, Russian Federation</b>
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<i>One of the most important factors predisposing to the development of age-related macular degeneration (AMD) is aging. Telomeres are important for aging by maintaining genome stability.</i>
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<i><b>Aim</b>: to identify the association between relative telomere length of buccal epithelial cells and SIRT1 rs12778366 genetic variation and late AMD.</i>
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<i><b>Patients and Methods:</b> 100 patients (200 eyes) were enrolled, i.e., 50 patients with AMD (AREDS category 4) and 50 patients without AMD. Genomic DNA isolated from buccal epithelial cells by phenol-chloroform extraction was used. Genotyping of SIRT1 rs12778366 polymorphic locus was performed by TaqMan<sup>®</sup> real-time PCR. Telomere length was measured by real-time PCR as described earlier [Cawthon, 2002] using specific primers. Relative telomere length was assessed by the relative telomere to single-copy gene (T/S) ratio.</i>
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<i><b>Results</b>: the rate of allele C was 25% in the study group and 14% in the control group (p=0.049). The rate of heterozygotic TC genotype was twice higher in the study group compared to the control group (p=0.045). In heterozygotic carriers of the allele C of the SIRT1 rs12778366 gene, the risk of AMD is 2.048- and 2.425-times higher in сodominant and dominant inheritance pattern, respectively. In patients with late AMD, there are more short telomeres (64% vs. 48% in the control group, р=0.0002).</i>
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<i><b>Conclusions</b>: further studies of a polymorphic SIRT1 gene locus in the association with telomere length in a larger sample are required. In the future, these molecular markers can be applied to predict the individual course of AMD and to implement preventive measures.</i>
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<i><b>Keywords</b>: age-related macular degeneration, relative telomere length, rs12778366, SIRT1 gene, age-related diseases, buccal epithelium, genetic testing.</i>
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<i><b>For citation:</b> Moshetova L.K., Dmitrenko O.P., Abramova O.I. et al. Association between relative telomere length and a genetic variant of SIRT gene and age-related macular degeneration. Russian Journal of Clinical Ophthalmology. 2021;21(3):143–146 (in Russ.). DOI: 10.32364/2311-7729-2021-21-3-143-146.</i>
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| ISSN: | 2311-7729 2619-1571 |