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门德尔的随机化和全转录组关联分析确定了与眼内压力有多热性相关的基因

Zhikun Yang¹, Zhewei Zhang², Yining Zhu³

¹Department of Ophthalmology, Peking Union Medical College Hospital, Key Laboratory of Ocular Fundus Diseases, Chinese Academy of Medical Sciences, Beijing 100730, China.

|May 27, 2023

概括

这项研究确定了与眼内压力 (IOP) Pleitotropically 相关的基因,这是一种关键的玻璃眼风险因素. 这些发现突出了17q21.31基因组区域.

科学领域:

遗传学和基因组学遗传学和基因组学
眼科医生眼科眼科
分子生物学分子生物学

背景情况:

眼内压力 (IOP) 是青光眼的显著可修改的风险因素.
控制IOP的确切机制仍然不完全理解.
识别影响IOP的基因对于理解青光眼病原体至关重要.

研究的目的:

识别具有与眼内压力 (IOP) Pleitotropic 关联的基因.
优先考虑候选基因,以便进一步研究IOP调节.
为了探索IOP控制的基因架构.

主要方法:

使用基于摘要的门德尔随机化 (SMR) 的两样本门德尔随机化方法.
分析了IOP的全基因组关联研究 (GWAS) 数据与基因型-组织表达 (GTEx) 和基因表达架构联盟 (CAGE) eQTL数据.
进行了一项全转录组关联研究 (TWAS),以确定与IOP相关的cis调节表达的基因.

主要成果:

使用GTEx和CAGE eQTL数据分别鉴定了19个和25个与IOP具有类关联的基因.
发现的最重要的基因包括RP11-259G18.3,KANSL1-AS1和RP11-259G18.2 (GTEx),以及LRRC37A4,MGC57346和RNF167 (CAGE).
有相当数量的已识别的基因位于17q21.31基因组区域内或附近;TWAS确定了18个重要的基因,与SMR发现重叠.

结论:

17q21.31基因组区域成为IOP调节的潜在关键区域.
这些发现为未来对玻璃眼瘤的研究提供了优先考虑的基因列表.
这项研究促进了对影响眼内压力的遗传因素的理解.

关键词:

表达方式定量特征 loci loci 全基因组关联研究研究.眼内压力眼内压力基于摘要的门德尔随机化.转录组广泛的关联研究研究.

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