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Journal Français d'Ophtalmologie
Volume 41, n° 9
pages e407-e415 (novembre 2018)
Doi : 10.1016/j.jfo.2018.09.001
Received : 30 August 2018 ;  accepted : 4 September 2018
Editor's choice

Epigenetics in Age-related Macular Degeneration (AMD)

T.J. Desmettre a, b,
a Centre de rétine médicale, 187, rue de Menin, 59520 Marquette-Lez-Lille, France 
b London International Medical Centre, 18-22 Queen Anne Street, London, W1G 8HU, United Kingdom 

Correpondence. Centre de rétine médicale, 187, rue de Menin, 59520 Marquette-Lez-Lille, France.Centre de rétine médicale187, rue de MeninMarquette-Lez-Lille59520France

Age-related Macular Degeneration (AMD) is a complex multifactorial condition involving multiple genetic, environmental and constitutional factors. Inflammation, oxidative stress and lipid metabolism seem to be the most important factors in the pathogenesis of the disease. The importance of genetic factors has mainly been revealed with the influence of histocompatibility complement factor H (CFH) variations and the ARSM2 susceptibility gene. Another component, epigenetics, could help to explain some of the relationships between environmental and genetic factors. Epigenetics is defined as the study of modulations of gene activity that can be transmitted over cell divisions without involving mutation of the DNA sequence. The molecules that are involved in these mechanisms are referred to as the epigenome. The mechanisms involve DNA methylation, histone modification, chromatin remodeling, and gene inhibition by non-coding RNA. Epigenetics could explain how the environment may induce relatively stable changes in traits or even diseases, possibly inheritable over several generations. Epigenetic traits established during development, and/or acquired under the influence of nutritional factors or other environmental factors, could influence the interactions between genes and the environment. Several authors have recently shown the influence of epigenetic factors in the pathogenesis of ocular diseases such as cataract, dry eye, glaucoma, diabetic retinopathy and more recently AMD. A better understanding of the involvement of genetic variants at risk, their relationship with epigenetics and environmental factors would certainly help to better assess the risk of developing AMD or better understand recent changes in the incidence of the disease.

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Keywords : Epigenetics, Age-Related Macular Degeneration, Gene-environment interaction, Gene expression, Retina

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