国际眼科纵览

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原发性闭角型青光眼遗传学研究进展

吴建  乔春艳   

  1. 100730 首都医科大学附属北京同仁医院 北京同仁眼科中心 北京市眼科研究所 眼科学与视觉科学北京市重点实验室
  • 收稿日期:2018-08-01 出版日期:2018-10-22 发布日期:2018-10-25
  • 通讯作者: 乔春艳,Email:chunyan_qiao@163.com
  • 基金资助:

    国家自然科学基金(81570837)

Advances in genetic research of primary angle closure glaucoma

WU Jian, QIAO Chun-yan.   

  1. Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University; Beijing Key Laboratory of Ophthalmology & Visual Sciences, Beijing 100730, China
  • Received:2018-08-01 Online:2018-10-22 Published:2018-10-25
  • Contact: QIAO Chun-yan, Email: chunyan_qiao@163.com
  • Supported by:

    National Natural Science Foundation of China (81570837)

摘要:

原发性闭角型青光眼(primary angle closure glaucoma,PACG)在中国、印度、爱斯基摩人群中发病率较高。家族史和种族与PACG的发生发展密切相关。最近通过全基因组关联研究确认了与PACG相关的8个候选基因(PLEKHA7、COL11A1、PCMTD1-ST18、EPDR1、CHAT、GLIS3、FERMT2、DPM2-FAM102),并通过Meta分析确定了5个位点,其中HGF、MFRP、MMP9、NOS3 等4个基因与PACG相关,HSP70与原发性闭角型相关疾病(primary angle-closure disease,PACD)整体相关。形态学上则认为前房深度(anterior chamber depth,ACD)在基因组范围内存在重要关联,然而在验证试验中结果仍有不同,表明PACG发病机制中遗传因素的参与较为复杂,还需进一步基础实验及大规模人群遗传学研究数据的支撑。(国际眼科纵览,2018,  42:  354-359)

Abstract:

Primary angle-closure glaucoma (PACG) has a particularly high incidence among Chinese, Indians and Eskimo populations. Studies have shown that family history and race are closely related to the occurrence and development of PACG disease. Some recent Genome-wide association studies (GWAS)  have identified eight candidate genes (PLEKHA7, COL11A1, PCMTD1-ST18, EPDR1, CHAT, GLIS3, FERMT2, DPM2-FAM102) related to PACG, and five loci were determined by the Meta analysis. HGF, MFRP, MMP9, and NOS3 four genes are associated with PACG, and HSP70 is associated with primary angle-closure disease (PACD). Morphologically, anterior chamber depth (ACD) is considered to be significantly correlated within the genome range, but the results are still different in the validation trials. These indicate that the participation of genetic factors in the pathogenesis of PACG is still complicated, and need to be supported by large-scale population genetics research also molecular experiments. This article reviews the current genetic development of PACG and analyzes the current research status. (Int Rev Ophthalmol, 2018, 42:  354-359)