[1]容烁,王超英,韩宝雁,等.圆锥角膜遗传病因学的研究进展[J].眼科新进展,2017,37(11):1083-1087.[doi:10.13389/j.cnki.rao.2017.0274]
　RONG Shuo,WANG Chao-Ying,HAN Bao-Yan,et al.Research progress on genetic etiology of keratoconus[J].Recent Advances in Ophthalmology,2017,37(11):1083-1087.[doi:10.13389/j.cnki.rao.2017.0274]
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圆锥角膜遗传病因学的研究进展/HTML
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《眼科新进展》[ISSN:1003-5141/CN:41-1105/R]

卷:
37卷
期数:
2017年11期
页码:
1083-1087
栏目:
文献综述
出版日期:
2017-11-05

文章信息/Info

Title:
Research progress on genetic etiology of keratoconus
作者:
容烁; 王超英; 韩宝雁; 李晓娜; 陈维毅
030024　山西省太原市，太原理工大学（容烁，李晓娜，陈维毅）；050082　河北省石家庄市，白求恩国际和平医院眼科（王超英，韩宝雁）
Author(s):
RONG Shuo; WANG Chao-Ying; HAN Bao-Yan; LI Xiao-Na; CHEN Wei-Yi
Taiyuan University of Technology（RONG Shuo，LI Xiao-Na，CHEN Wei-Yi），Taiyuan 030024，Shanxi Province，China；Department of Ophthalmology，the Bethune International Peace Hospital（WANG Chao-Ying，HAN Bao-Yan），Shijiazhuang 050082，Hebei Province，China
关键词:
圆锥角膜; 遗传因素; 基因
Keywords:
keratoconus; etiology; genetic factors
分类号:
R772.2
DOI:
10.13389/j.cnki.rao.2017.0274
文献标志码:
A
摘要:
圆锥角膜是常见的扩张性角膜疾病，以角膜圆锥状前凸、变薄导致的近视、不规则散光等视力损伤为特征。该病的影响广泛，但其病因尚不明了，遗传因素等可能参与了其发病机制。本文总结了近年来圆锥角膜遗传病因学的研究进展。对基于传统/全基因组连锁分析、全基因组关联分析以及角膜中央厚度筛选出的候选基因位点进行了综述。圆锥角膜发病机制的遗传学研究将有助于我们加深对该病的理解，并进一步推进治疗方法的发展。
Abstract:
Keratoconus (KC) is a common cornea ectatic disorder characterized by myopia，irregular astigmatism and other visual impairment caused by corneal thinning and cone-shaped protrusion.With a wide range of effects，the etiology of this disease is unknown，and genetic factors may be involved in its pathogenesis.This paper summarizes the research progress on KC genetic etiology for reviewing the selected candidate genes and loci based on traditional/genome-wide linkage studies，genome-wide association studies and central corneal thickness in recent years.Genetic studies on KC pathogenesis will advance our understanding of this disease and further promote the development of potential therapies.

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备注/Memo

备注/Memo:
国家自然科学基金资助（编号：31271005、11402162）
更新日期/Last Update: 2017-11-01