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一个全基因组协会研究对高度近视眼中的轴长度易感性

Qiang Lu^1,2,3,4, Yu Du^1,2,3,4, Ye Zhang^1,2,3,4

¹Department of Ophthalmology, Eye and Ear, Nose, and Throat Hospital, Fudan University, 83 Fenyang Road, Shanghai, 200031 China.

Phenomics (Cham, Switzerland)

|June 16, 2023

概括

这项研究确定了新的遗传因素,ADAMTS16和PIGZ,与高近视和轴长度有关. 动物模型显示,这些基因在近视眼神经视网膜上升调,为近视发展提供了新的见解.

科学领域:

眼科医生眼科眼科
遗传学是一个遗传学.
分子生物学分子生物学

背景情况:

高近视是一种普遍的全球性疾病,具有重要的,但不太了解的遗传基础.
识别轴长 (AL) 的遗传敏感性基因对于理解高近视病因至关重要.

研究的目的:

在高度近视的个体中识别与轴长度 (AL) 相关的新型易感性基因.
用近视动物模型研究神经视网膜中已识别的基因的作用.

主要方法:

在350名高度近视患者的全基因组测序数据上进行全基因组关联研究 (GWAS).
顶部单核酸多形态 (SNP) 的功能注释.
在失去形状的近视小鼠神经视网膜上进行动物实验 (免疫光,qPCR,西部斑).
丰富分析用于路径识别.

主要成果:

确定了四个顶级SNP,其中ADAM金属酶与血栓状腺素1型动机16 (ADAMTS16) 和酸糖生物合成类Z (PIGZ) 显示了潜在的临床意义.
在失去形状的眼睛的神经视网膜中,ADAMTS16和PIGZ mRNA水平显著升高 (p=0.005和0.007).
在被剥夺眼睛的神经视网膜中,ADAMTS16和PIGZ蛋白质表达显著上调 (p=0.004和0.042).

结论:

这项研究确定了与高近视的AL相关的四种新型SNP.
在近视眼的神经视网膜中,ADAMTS16和PIGZ的表达显著上调.
丰富性分析表明,高近视发展中细胞粘附,信号转导,昼夜活动和炎症通路的作用.

关键词:

亚当金属化酶与血栓素类型1动机16 16 轴长度轴长度轴长度高近视是指高近视的情况.酸氨基基生物合成Z类整个基因组测序的测序

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