[关键词]
[摘要]
圆锥角膜是一种以角膜扩张、中央区角膜基质变薄、呈圆锥形突起及高度不规则近视散光为特征的角膜扩张性疾病。前期经家系研究、双生子研究等多种方法证实,该病的发生有明显的遗传倾向。随着分子生物学技术的发展,圆锥角膜的遗传学研究也逐渐增多,主要包含核基因组、线粒体基因组及表观遗传学相关研究,本文就圆锥角膜相关遗传学研究进展进行综述。
[Key word]
[Abstract]
Keratoconus is a corneal disease characterized by corneal ectasia, progressive corneal thinning, conical protrusion and irregular astigmatism. Several studies have indicated that keratoconus is a complex disease with genetic heterogeneity. Genetic studies on keratoconus involving nuclear genome, mitochondrial genome and epigenetics were increasing. This article reviews the recent progress in genetic research on keratoconus.
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[基金项目]
国家自然科学基金青年基金项目(No.81200664); 河南省自然科学基金项目(No.182300410362)