Department of Ophthalmology, Lithuanian University of Health Sciences, Medical Academy, Lithuania.
Neuroscience Institute, Lithuanian University of Health Sciences, Medical Academy, Kaunas, Lithuania.
Ophthalmic Genet. 2021 Apr;42(2):189-194. doi: 10.1080/13816810.2021.1881976. Epub 2021 Feb 10.
: 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 (, and ) in patients with atrophic AMD compared to healthy controls.: 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 rs2736098, rs401681 in locus, rs1545827, rs10107605, rs10509637, rs10509639, and 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".: 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), < .001). Also, statistically significant differences were found in 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, = .041), as well as between the short telomere and long telomere groups (86.92% and 13.08% vs. 96.09% and 3.91%, respectively, = .008).: Our research revealed the leukocyte telomere length having a role in atrophic AMD development, also the association between rs10107605 and the telomere length.
在实验模型中,端粒缩短会抑制新血管生成。因此,在年龄相关性黄斑变性(AMD)的情况下,端粒缩短可能在地理萎缩的发病机制中起作用。这就是为什么我们旨在寻找与萎缩性 AMD 患者相比,端粒长度和端粒相关基因(,和)中的遗传变异相关的任何差异。
该研究纳入了 56 例萎缩性 AMD 患者和 73 例健康对照者。采用 DNA 盐析法提取外周血白细胞 DNA。采用实时聚合酶链反应方法对 rs2736098、 位点的 rs401681、rs1545827、rs10107605、rs10509637、rs10509639 和 rs251796 进行基因分型,并测量相对白细胞端粒长度(T/S)。采用“IBM SPSS Statistics 20.0”统计分析方法评估结果。
我们发现,与健康对照组相比,萎缩性 AMD 患者的 T/S 显著升高(T/S,中位数(IQR):1.638(1.110)与 0.764(0.801),<0.001)。此外,萎缩性 AMD 组和对照组之间的 rs10107605 等位基因(A 和 C)分布也存在统计学显著差异(分别为 88.36%和 11.64%与 95.54%和 4.46%,=0.041),以及短端粒和长端粒组之间的分布也存在统计学显著差异(分别为 86.92%和 13.08%与 96.09%和 3.91%,=0.008)。
我们的研究揭示了白细胞端粒长度在萎缩性 AMD 发展中的作用,以及 rs10107605 与端粒长度之间的关系。