Rs4244285和Rs762551基因多态性与年龄相关性黄斑变性之间的关联。

Associations between Rs4244285 and Rs762551 gene polymorphisms and age-related macular degeneration.

作者信息

Stasiukonyte Neringa, Liutkeviciene Rasa, Vilkeviciute Alvita, Banevicius Mantas, Kriauciuniene Loresa

机构信息

a Medical Academy , Lithuanian University of Health Sciences , Kaunas , Lithuania.

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

出版信息

Ophthalmic Genet. 2017 Jul-Aug;38(4):357-364. doi: 10.1080/13816810.2016.1242018. Epub 2017 Jan 17.

DOI:10.1080/13816810.2016.1242018

PMID:28095090

Abstract

BACKGROUND

Age-related macular degeneration is the leading cause of blindness in elderly individuals in developed countries. The etiology and pathophysiology of age-related macular degeneration have not been elucidated yet. Knowing that the main pathological change of age-related macular degeneration is formation of drusen containing about 40% of lipids, there have been attempts to find associations between age-related macular degeneration and genes controlling lipid metabolism.

PURPOSE

To determine the frequency of CYP2C19 (G681A) Rs4244285 and CYP1A2 (-163C>A) Rs762551 genotypes in patients with age-related macular degeneration.

METHODS

The study enrolled 150 patients with early age-related macular degeneration and 296 age- and gender-matched healthy controls. The genotyping of Rs4244285 and Rs762551 was carried out by using the real-time polymerase chain reaction method.

RESULTS

The CYP1A2 (-163C>A) Rs762551 C/C genotype was more frequently detected in patients with age-related macular degeneration than in the control group (32.7% vs. 21.6%, p = 0.011) and was associated with an increased risk of developing early age-related macular degeneration (OR = 1.759, 95% CI: 1.133-2.729; p = 0.012). The CYP1A2 (-163C>A) Rs762551 C/A genotype was more frequently documented in the control group compared with patients with age-related macular degeneration (46.3% vs. 30.7%, p = 0.002) and was associated with a decreased risk of having age-related macular degeneration (OR = 0.580. 95% CI: 0.362-0.929, p = 0.023) in the co-dominant model.

CONCLUSION

The study showed that the CYP1A2 (-163C>A) Rs762551 C/C genotype was associated with an increased risk of age-related macular degeneration.

摘要

背景

年龄相关性黄斑变性是发达国家老年人失明的主要原因。年龄相关性黄斑变性的病因和病理生理学尚未阐明。鉴于年龄相关性黄斑变性的主要病理变化是形成含有约40%脂质的玻璃膜疣，人们一直试图寻找年龄相关性黄斑变性与控制脂质代谢的基因之间的关联。

目的

确定年龄相关性黄斑变性患者中CYP2C19（G681A）Rs4244285和CYP1A2（-163C>A）Rs762551基因型的频率。

方法

该研究纳入了150例早期年龄相关性黄斑变性患者和296例年龄及性别匹配的健康对照。采用实时聚合酶链反应法对Rs4244285和Rs762551进行基因分型。

结果

年龄相关性黄斑变性患者中CYP1A2（-163C>A）Rs762551 C/C基因型的检出频率高于对照组（32.7%对21.6%，p = 0.011），且与早期年龄相关性黄斑变性的发病风险增加相关（OR = 1.759，95%CI：1.133 - 2.729；p = 0.012）。与年龄相关性黄斑变性患者相比，对照组中CYP1A2（-163C>A）Rs762551 C/A基因型的记录频率更高（46.3%对30.7%，p = 0.002），在共显性模型中与年龄相关性黄斑变性的发病风险降低相关（OR = 0.580，95%CI：0.362 - 0.929，p = 0.023）。