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基质金属蛋白酶多态性在年龄相关性黄斑变性中的作用

The Role of Matrix Metalloproteinases Polymorphisms in Age-Related Macular Degeneration.

作者信息

Liutkeviciene Rasa, Lesauskaite Vaiva, Sinkunaite-Marsalkiene Giedre, Zaliuniene Dalia, Zaliaduonyte-Peksiene Diana, Mizariene Vaida, Gustiene Olivija, Jasinskas Vytautas, Jariene Giedre, Tamosiunas Abdonas

机构信息

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

出版信息

Ophthalmic Genet. 2015 Jun;36(2):149-55. doi: 10.3109/13816810.2013.838274. Epub 2013 Sep 30.

Abstract

BACKGROUND

Matrix metalloproteinases (MMP) are responsible for the degradation of extracellular matrix components and play an important role in the physiological and pathological remodeling of tissues.

PURPOSE

To assess the impact of MMP-2 Rs2285053 (C->T), MMP-3 Rs3025039 (5A->6A), and MMP-9 Rs3918242 (C->T) single nucleotide polymorphism on the development of early age-related macular degeneration (AMD).

METHODS

The study group comprised 148 patients with AMD, and the control group enrolled 526 randomly selected persons. The genotyping of MMP-3 Rs3025039, MMP-2 Rs2285053, and MMP-9 Rs3918242 was performed by using the real-time PCR method.

RESULTS

The frequency of the MMP-2 (-735) C/T and MMP-3 (-1171) 5A/6A genotypes did not differ significantly between the patients with AMD and the control group, while the MMP-9 (-1562) C/C genotype was more frequently detected in patients with AMD than the control group (73.7% vs. 64.6%, p=0.048). Logistic regression analysis showed that the MMP-9 (-1562) C/C genotype increased the likelihood of developing early AMD (OR=1.51, 95% CI: 1.01-2.21; p=0.046). After the subdivision into the groups by age, a significant difference only in the frequency of the MMP-9 (-1562) C/C genotype was found comparing the AMD patients and the control group younger than 65 years (79.7% vs. 66.4%, p=0.039).

CONCLUSIONS

Only MMP-9 Rs3918242 (C->T) single nucleotide polymorphism was found to play a significant role in the development of AMD, and the effect was more pronounced at the age of less than 65 years.

摘要

背景

基质金属蛋白酶(MMP)负责细胞外基质成分的降解,并在组织的生理和病理重塑中发挥重要作用。

目的

评估MMP-2 Rs2285053(C→T)、MMP-3 Rs3025039(5A→6A)和MMP-9 Rs3918242(C→T)单核苷酸多态性对早发性年龄相关性黄斑变性(AMD)发病的影响。

方法

研究组包括148例AMD患者,对照组纳入526名随机选择的个体。采用实时PCR法对MMP-3 Rs3025039、MMP-2 Rs2285053和MMP-9 Rs3918242进行基因分型。

结果

AMD患者与对照组之间MMP-2(-735)C/T和MMP-3(-1171)5A/6A基因型的频率无显著差异,而AMD患者中MMP-9(-1562)C/C基因型的检出频率高于对照组(73.7%对64.6%,p=0.048)。逻辑回归分析表明,MMP-9(-1562)C/C基因型增加了发生早期AMD的可能性(OR=1.51,95%CI:1.01-2.21;p=0.046)。按年龄分组后,比较年龄小于65岁的AMD患者和对照组,仅发现MMP-9(-1562)C/C基因型的频率存在显著差异(79.7%对66.4%,p=0.039)。

结论

仅发现MMP-9 Rs3918242(C→T)单核苷酸多态性在AMD发病中起显著作用,且在65岁以下时作用更明显。

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