国际眼科纵览
• 综述 • 上一篇 下一篇
陈荟宇 徐建江
收稿日期:
出版日期:
发布日期:
通讯作者:
CHEN Hui-yu, XU Jian-jiang.
Received:
Online:
Published:
Contact:
摘要:
圆锥角膜是一种常见的复杂性状遗传疾病,其致病机制至今不明。全基因组关联分析研究(genome-wide association studies,GWAS)以单核苷酸多态性(single-nucleotide polymorphisms,SNP)为研究对象,是目前研究圆锥角膜遗传基础较好的手段。近五年来,针对圆锥角膜的GWAS研究发现3个可疑致病基因为RAB3GAP1、 HGF、 LOX,并发现与中央角膜厚度相关的可疑突变位点。
Abstract:
Keratoconus is a common multigenic disease with a complex mode of inheritance. But the pathogenic mechanism of keratoconus is still unknown. Genome-wide association studies (GWAS) use high-throughput genotyping technologies to genotype single-nucleotide polymorphisms (SNP) and relate them to the diseases. It has been the best method used in keratoconus genetic etiology research. For the past 5 years, GWAS in kerotconus has been highly successful, such as three suspected pathogenic genes, RAB3GAP1, HGF, LOX were found and some suspicious mutation sites were related to central corneal thickness.
陈荟宇 徐建江. 全基因组关联分析研究圆锥角膜遗传病因学的进展[J]. 国际眼科纵览, doi: 10. 3706/ cma. j. issn.1673-5803. 2016. 03. 004.
CHEN Hui-yu, XU Jian-jiang. . Genome-wide association studies in keratoconus genetic etiology research[J]. International Review of Ophthalmology, doi: 10. 3706/ cma. j. issn.1673-5803. 2016. 03. 004.
0 / / 推荐
导出引用管理器 EndNote|Ris|BibTeX
链接本文: http://www.j-bio.net/CN/ 10. 3706/ cma. j. issn.1673-5803. 2016. 03. 004
http://www.j-bio.net/CN/Y2016/V40/I3/161