McMonnies Charles W
School of Optometry and Vision Science, University of New South Wales, Kensington, Australia.
Eye Contact Lens. 2014 Nov;40(6):371-5. doi: 10.1097/ICL.0000000000000078.
The etiology of keratoconus (KC) seems to involve genetic and/or environmental factors such as rubbing and/or contact lens trauma and/or exposure to ultraviolet radiation. An examination of the possibility that epigenetic mechanisms could contribute to the tissue changes in KC has been considered in this review. The tissue changes in KC result in thinning and/or other forms of mechanical weakening of the cornea, which cause it to become more susceptible to the distending forces of intraocular pressure with associated development of a cone. Rather than being caused by a single gene mutation, a complex or multifactorial disease such as KC involves multiple genes plus lifestyle and environmental factors. The epigenome of a cell is highly dynamic, being governed by a complex interplay of genetic and environmental factors. The full range of epigenetic marks is currently unknown but is potentially enormous. Although further elucidation of the genetic determinants of KC is important, there is now increasing interest in exploring how non-genetic variants, such as epigenetic factors, could influence complex disease etiology. Studies of epigenetic processes in KC may help explain the relationship between the genome and the environment and provide new clues for modifying these processes with the possibility of preventing the development of KC or stabilizing its progress. Epigenetic linking may be relevant to other complex ocular diseases that involve environmental factors including those that involve exposure to ultraviolet radiation.
圆锥角膜（KC）的病因似乎涉及遗传和/或环境因素，如揉眼和/或隐形眼镜损伤和/或暴露于紫外线辐射。本综述探讨了表观遗传机制可能导致KC组织变化的可能性。KC的组织变化导致角膜变薄和/或其他形式的机械性减弱，使其更容易受到眼内压的扩张力影响，并伴有圆锥形成。像KC这样的复杂或多因素疾病不是由单一基因突变引起的，而是涉及多个基因以及生活方式和环境因素。细胞的表观基因组具有高度动态性，受遗传和环境因素的复杂相互作用支配。目前尚不清楚表观遗传标记的全貌，但可能非常庞大。虽然进一步阐明KC的遗传决定因素很重要，但现在人们越来越有兴趣探索非遗传变异，如表观遗传因素，如何影响复杂疾病的病因。对KC表观遗传过程的研究可能有助于解释基因组与环境之间的关系，并为改变这些过程提供新线索，从而有可能预防KC的发展或稳定其进展。表观遗传联系可能与其他涉及环境因素的复杂眼病有关，包括那些涉及紫外线辐射暴露的眼病。
