rs10509681和rs11572080基因多态性与年龄相关性黄斑变性之间的关联。

Associations between rs10509681 and rs11572080 gene polymorphisms and age-related macular degeneration.

作者信息

Liutkevičienė Rasa, Sungailienė Ramunė, Vilkevičiūtė Alvita, Kriaučiūnienė Loresa, Vaitkienė Paulina, Chaleckis Romanas, Deltuva Vytenis Pranas

机构信息

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

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

出版信息

Acta Med Litu. 2017;24(2):75-82. doi: 10.6001/actamedica.v24i2.3487.

DOI:10.6001/actamedica.v24i2.3487

PMID:28845124

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5566945/

Abstract

BACKGROUND

Age-related macular degeneration (AMD) is the most common cause of irreversible visual loss in industrialized countries. Early symptoms of AMD include drusen and changes in retinal pigment epithelium. However, the etiology of AMD and drusen formation is not fully understood. Recent studies suggest that -related metabolic processes might play an important role in the development of AMD. The aim of our study is to investigate rs10509681 and rs11572080 genotype frequencies in patients with early AMD and to compare them with healthy controls.

MATERIALS AND METHODS

The study enrolled 305 patients with early AMD and 300 healthy controls. The genotyping of rs10509681 and rs11572080 was carried out using the real-time PCR method.

RESULTS

The analysis of studied polymorphisms did not reveal any statistically significant differences between the AMD and the control groups. For the rs10509681 gene polymorphism the distribution of T/T, T/C, and C/C genotypes was 83.3%, 16.7%, and 0% vs. 83.7%, 15.7%, and 0.7%, = 0.343. For the rs11572080 gene polymorphism the distribution of C/C, T/C and T/T and genotypes was 84.9%, 15.1%, and 0% vs. 82.3%, 17.3%, and 0.3%, = 0.447.

CONCLUSION

The study revealed that there were no statistically significant differences in the distribution of rs10509681 and rs11572080 genotypes in patients with early AMD and in healthy controls.

摘要

背景

年龄相关性黄斑变性（AMD）是工业化国家不可逆视力丧失的最常见原因。AMD的早期症状包括玻璃膜疣和视网膜色素上皮改变。然而，AMD和玻璃膜疣形成的病因尚未完全明确。近期研究表明，相关代谢过程可能在AMD的发生发展中起重要作用。本研究的目的是调查早期AMD患者中rs10509681和rs11572080的基因型频率，并与健康对照进行比较。

材料与方法

本研究纳入305例早期AMD患者和300例健康对照。采用实时荧光定量PCR法对rs10509681和rs11572080进行基因分型。

结果

对所研究多态性的分析未发现AMD组与对照组之间存在任何统计学显著差异。对于rs10509681基因多态性，T/T、T/C和C/C基因型的分布分别为83.3%、16.7%和0%，而对照组分别为83.7%、15.7%和0.7%，P = 0.343。对于rs11572080基因多态性，C/C、T/C和T/T基因型的分布分别为84.9%、15.1%和0%，而对照组分别为82.3%、17.3%和0.3%，P = 0.447。