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端粒相关基因中相对白细胞端粒长度和遗传变异与年龄相关性黄斑变性萎缩的关系。

Association of relative leukocyte telomere length and genetic variants in telomere-related genes () with atrophic age-related macular degeneration.

机构信息

Department of Ophthalmology, Lithuanian University of Health Sciences, Medical Academy, Lithuania.

Neuroscience Institute, Lithuanian University of Health Sciences, Medical Academy, Kaunas, Lithuania.

出版信息

Ophthalmic Genet. 2021 Apr;42(2):189-194. doi: 10.1080/13816810.2021.1881976. Epub 2021 Feb 10.

Abstract

: 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.

摘要

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。

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