Literature DB >> 28944191

MMP-2 Rs24386 (C-->T) gene polymorphism and the phenotype of age-related macular degeneration.

Rasa Liutkeviciene1,2, Vaiva Lesauskaite3, Giedre Sinkunaite-Marsalkiene3, Sandrita Simonyte3, Reda Zemaitiene1, Loresa Kriauciuniene1,2, Dalia Zaliuniene1.   

Abstract

AIM: To examine the MMP-2 (-1306 C/T) gene polymorphism and the phenotype characterized by soft and hard drusen of early age-related macular degeneration (AMD) and geographic atrophy of late AMD form.
METHODS: The study enrolled 850 investigations (290 AMD patients with soft and hard drusen, 34 with geographic atrophy and a random sample of the population n=526). Early AMD was classified according to the International Classification and Grading System. For geographic atrophy diagnosis the Age-Related Eye Disease Study classification was used. The potential association with single nucleotide polymorphisms on MMP-2 Rs243865 was evaluated for all patients, adjusted for age and sex. The genotyping test of MMP-2 Rs243865 (C-->T) was conducted using the real-time polymerase chain reaction method.
RESULTS: MMP-2 (-1306 C/T) C/C genotype was more frequently detected in AMD patients with hard drusen than the soft drusen or control group (66.43% vs 53.74%, vs 54.94%, P=0.047). Logistic regression analysis showed that the MMP-2 (-1306) C/C genotype increased the likelihood to develop hard drusen in AMD patients (OR=1.7, 95% CI: 1.06-2.74; P=0.028). No association between MMP-2 (-1306 C/T) gene polymorphism in patients with atrophic AMD and control group was found (54.94%, 37.64%, 7.41% vs 50%, 38.24%, 11.76%; P=0.6).
CONCLUSION: The MMP-2 Rs24386 (C-->T) polymorphism is found to be associated with the development of hard drusen in patients with AMD.

Entities:  

Keywords:  age-related macular degeneration; gene polymorphism; matrix metalloproteinases; phenotype

Year:  2017        PMID: 28944191      PMCID: PMC5596217          DOI: 10.18240/ijo.2017.09.03

Source DB:  PubMed          Journal:  Int J Ophthalmol        ISSN: 2222-3959            Impact factor:   1.779


  20 in total

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2.  Meta-analysis of the rs243865 MMP-2 polymorphism and age-related macular degeneration risk.

Authors:  Ricardo Usategui-Martín; Salvador Pastor-Idoate; Antonio J Chamorro; Itziar Fernández; Iván Fernández-Bueno; Miguel Marcos-Martín; Rogelio González-Sarmiento; José Carlos Pastor
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