国际眼科纵览

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全基因组关联分析研究圆锥角膜遗传病因学的进展

陈荟宇 徐建江   

  1. 200031上海,复旦大学附属眼耳鼻喉科医院眼科
  • 收稿日期:2015-12-12 出版日期:2016-06-25 发布日期:2016-06-26
  • 通讯作者: 徐建江,Email: jianjiangxu@126.com

Genome-wide association studies in keratoconus genetic etiology research

CHEN Hui-yu, XU Jian-jiang.   

  1. Department of Ophthalmology, Eye & ENT Hospital of Fudan University, Shanghai 200031, China
  • Received:2015-12-12 Online:2016-06-25 Published:2016-06-26
  • Contact: XU Jian-jiang, Email: jianjiangxu@126.com

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.