The genetic and environmental factors for keratoconus.
The genetic and environmental factors for keratoconus.
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DOI：
10.1155/2015/795738
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发表时间：
2015
影响因子：
--
通讯作者：
Liu Y
中科院分区：
文献类型：
--
作者：
Gordon-Shaag A;Millodot M;Shneor E;Liu Y
圆锥角膜是最常见的角膜扩张性疾病。其特征在于圆锥形薄角膜，导致近视、不规则散光和视力障碍。它影响到所有族裔群体和两性。环境因素和遗传因素均可能参与其发病机制。本文就KC的流行病学和遗传病因学的研究进展作一综述。环境因素包括但不限于揉眼、特应性、阳光照射和地理。遗传学的发现已被审查的证据，以家庭为基础的连锁分析和精细定位的连锁区域，全基因组关联研究，和候选基因分析。许多基因以相对较快的速度被发现。详细的分子机制，KC发病机制将显着推进我们对KC的理解，并促进潜在的治疗方法的发展。
Keratoconus (KC) is the most common cornea ectatic disorder. It is characterized by a cone-shaped thin cornea leading to myopia, irregular astigmatism, and vision impairment. It affects all ethnic groups and both genders. Both environmental and genetic factors may contribute to its pathogenesis. This review is to summarize the current research development in KC epidemiology and genetic etiology. Environmental factors include but are not limited to eye rubbing, atopy, sun exposure, and geography. Genetic discoveries have been reviewed with evidence from family-based linkage analysis and fine mapping in linkage region, genome-wide association studies, and candidate genes analyses. A number of genes have been discovered at a relatively rapid pace. The detailed molecular mechanism underlying KC pathogenesis will significantly advance our understanding of KC and promote the development of potential therapies.
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