Relative Leukocyte Telomere Length and Genetic Variants in Telomere-Related Genes and Serum Levels Role in Age-Related Macular Degeneration
Telomere shortening is well known to be associated with ageing. Age is the most decisive risk factor for age-related macular degeneration (AMD) development. The older the individual, the higher the AMD risk. For this reason, we aimed to find any associations between telomere length, distribution of...
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MDPI AG
2022-11-01
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| author | Alvita Vilkeviciute Greta Gedvilaite Mantas Banevicius Loresa Kriauciuniene Dalia Zaliuniene Olivija Dobiliene Rasa Liutkeviciene |
| author_facet | Alvita Vilkeviciute Greta Gedvilaite Mantas Banevicius Loresa Kriauciuniene Dalia Zaliuniene Olivija Dobiliene Rasa Liutkeviciene |
| author_sort | Alvita Vilkeviciute |
| collection | DOAJ |
| description | Telomere shortening is well known to be associated with ageing. Age is the most decisive risk factor for age-related macular degeneration (AMD) development. The older the individual, the higher the AMD risk. For this reason, we aimed to find any associations between telomere length, distribution of genetic variants in telomere-related genes (<i>TERT</i>, <i>TERT-CLPTM1</i>, <i>TRF1</i>, <i>TRF2</i>, and <i>TNKS2</i>), and serum TERF-1 and TERF2 levels on AMD development. Methods: Our study enrolled 342 patients with AMD and 177 healthy controls. Samples of DNA from peripheral blood leukocytes were extracted by DNA salting-out method. The genotyping of <i>TERT</i> rs2736098, rs401681 in <i>TERT-CLPTM1</i> locus, <i>TRF1</i> rs1545827, rs10107605, <i>TNKS2</i> rs10509637, rs10509639, and <i>TRF2</i> rs251796 and relative leukocyte telomere length (T/S) measurement were carried out using the real-time polymerase chain reaction method. Serum TERF-1 and TERF2 levels were measured by enzymatic immunoassay (ELISA). Results: We found longer telomeres in early AMD patients compared to the control group. Additionally, we revealed that minor allele C at <i>TRF1</i> rs10107605 was associated with decreases the odds of both early and exudative AMD. Each minor allele G at <i>TRF2</i> rs251796 and <i>TRF1</i> rs1545827 C/T genotype and C/T+T/T genotypes, compared to the C/C genotype, increases the odds of having shorter telomeres. Furthermore, we found elevated TERF1 serum levels in the early AMD group compared to the control group. Conclusions: In conclusion, these results suggest that relative leukocyte telomere length and genetic variants of <i>TRF1</i> and <i>TRF2</i> play a role in AMD development. Additionally, TERF1 is likely to be associated with early AMD. |
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| spelling | doaj.art-b0dfaae2c2c246bea2114bc9e4b0de912023-11-24T10:44:46ZengMDPI AGCells2073-44092022-11-011123384710.3390/cells11233847Relative Leukocyte Telomere Length and Genetic Variants in Telomere-Related Genes and Serum Levels Role in Age-Related Macular DegenerationAlvita Vilkeviciute0Greta Gedvilaite1Mantas Banevicius2Loresa Kriauciuniene3Dalia Zaliuniene4Olivija Dobiliene5Rasa Liutkeviciene6Laboratory of Ophthalmology, Neuroscience Institute, Medical Academy, Lithuanian University of Health Sciences, LT-50161 Kaunas, LithuaniaLaboratory of Ophthalmology, Neuroscience Institute, Medical Academy, Lithuanian University of Health Sciences, LT-50161 Kaunas, LithuaniaDepartment of Ophthalmology, Medical Academy, Lithuanian University of Health Sciences, LT-50161 Kaunas, LithuaniaLaboratory of Ophthalmology, Neuroscience Institute, Medical Academy, Lithuanian University of Health Sciences, LT-50161 Kaunas, LithuaniaDepartment of Ophthalmology, Medical Academy, Lithuanian University of Health Sciences, LT-50161 Kaunas, LithuaniaDepartment of Cardiology, Medical Academy, Lithuanian University of Health Sciences, LT-50161 Kaunas, LithuaniaLaboratory of Ophthalmology, Neuroscience Institute, Medical Academy, Lithuanian University of Health Sciences, LT-50161 Kaunas, LithuaniaTelomere shortening is well known to be associated with ageing. Age is the most decisive risk factor for age-related macular degeneration (AMD) development. The older the individual, the higher the AMD risk. For this reason, we aimed to find any associations between telomere length, distribution of genetic variants in telomere-related genes (<i>TERT</i>, <i>TERT-CLPTM1</i>, <i>TRF1</i>, <i>TRF2</i>, and <i>TNKS2</i>), and serum TERF-1 and TERF2 levels on AMD development. Methods: Our study enrolled 342 patients with AMD and 177 healthy controls. Samples of DNA from peripheral blood leukocytes were extracted by DNA salting-out method. The genotyping of <i>TERT</i> rs2736098, rs401681 in <i>TERT-CLPTM1</i> locus, <i>TRF1</i> rs1545827, rs10107605, <i>TNKS2</i> rs10509637, rs10509639, and <i>TRF2</i> rs251796 and relative leukocyte telomere length (T/S) measurement were carried out using the real-time polymerase chain reaction method. Serum TERF-1 and TERF2 levels were measured by enzymatic immunoassay (ELISA). Results: We found longer telomeres in early AMD patients compared to the control group. Additionally, we revealed that minor allele C at <i>TRF1</i> rs10107605 was associated with decreases the odds of both early and exudative AMD. Each minor allele G at <i>TRF2</i> rs251796 and <i>TRF1</i> rs1545827 C/T genotype and C/T+T/T genotypes, compared to the C/C genotype, increases the odds of having shorter telomeres. Furthermore, we found elevated TERF1 serum levels in the early AMD group compared to the control group. Conclusions: In conclusion, these results suggest that relative leukocyte telomere length and genetic variants of <i>TRF1</i> and <i>TRF2</i> play a role in AMD development. Additionally, TERF1 is likely to be associated with early AMD.https://www.mdpi.com/2073-4409/11/23/3847relative leukocyte telomere lengthage-related macular degenerationSNPTERTTERT-CLPTM1TRF1 |
| spellingShingle | Alvita Vilkeviciute Greta Gedvilaite Mantas Banevicius Loresa Kriauciuniene Dalia Zaliuniene Olivija Dobiliene Rasa Liutkeviciene Relative Leukocyte Telomere Length and Genetic Variants in Telomere-Related Genes and Serum Levels Role in Age-Related Macular Degeneration Cells relative leukocyte telomere length age-related macular degeneration SNP TERT TERT-CLPTM1 TRF1 |
| title | Relative Leukocyte Telomere Length and Genetic Variants in Telomere-Related Genes and Serum Levels Role in Age-Related Macular Degeneration |
| title_full | Relative Leukocyte Telomere Length and Genetic Variants in Telomere-Related Genes and Serum Levels Role in Age-Related Macular Degeneration |
| title_fullStr | Relative Leukocyte Telomere Length and Genetic Variants in Telomere-Related Genes and Serum Levels Role in Age-Related Macular Degeneration |
| title_full_unstemmed | Relative Leukocyte Telomere Length and Genetic Variants in Telomere-Related Genes and Serum Levels Role in Age-Related Macular Degeneration |
| title_short | Relative Leukocyte Telomere Length and Genetic Variants in Telomere-Related Genes and Serum Levels Role in Age-Related Macular Degeneration |
| title_sort | relative leukocyte telomere length and genetic variants in telomere related genes and serum levels role in age related macular degeneration |
| topic | relative leukocyte telomere length age-related macular degeneration SNP TERT TERT-CLPTM1 TRF1 |
| url | https://www.mdpi.com/2073-4409/11/23/3847 |
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