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在临床生物库中基于基因型的"虚拟"代谢学识别了新的代谢物-疾病关联

Minoo Bagheri¹, Andrei Bombin¹, Mingjian Shi²

¹Vanderbilt University Medical Center.

Research square

|October 4, 2023

概括

基于遗传学的虚拟代谢学发现了循环代谢物和疾病之间的新联系. 这种方法验证了16种代谢物-表型关联,包括胆结石与胆红素以及心脏病与坎佩斯特醇.

科学领域:

代谢学代谢学代谢学
遗传学遗传学是一个
生物标志物生物标志物

背景情况:

循环中的代谢物是代谢障碍和疾病病理生理学的生物标志物.
遗传变异影响了代谢物水平的个体间差异.
识别新的代谢物与疾病的关联可以揭示生物标志物和治疗点.

研究的目的:

评估基于遗传学的虚拟代谢学方法,用于识别新型代谢物与疾病的关联.
研究代谢物水平的遗传基础及其与临床表型的关系.

主要方法:

在57,735名欧洲和15,754名非洲祖先参与者 (BioVU) 中,利用了726种代谢物的多基因评分 (OMICSPRED).
采用孟德尔随机化 (MR) 使用METSIM研究遗传仪器来探测显著的关联.
通过独立的全基因组关联研究 (GWAS) 验证的MR发现.

主要成果:

在欧洲和非洲祖先队伍中确定了336个代谢物-表型关联,在非洲祖先队伍中确定了107个.
在欧洲祖先中,MR证实了73个代谢物-表型关联.
在22个代谢物-表型对中,16个在独立的GWAS中复制,包括胆固醇病的胆红素和冠状动脉疾病的坎普斯特醇.

结论:

经过验证的关联包括胆病的胆素和X-21796,炎症性肠病/克罗恩病的酸盐和酸盐,以及冠状动脉疾病/心肌梗塞的坎佩斯特醇.
这些发现突出了潜在的生物标志物和疾病风险的可向媒介.
虚拟代谢学方法有效地识别了新的代谢物-疾病关系.

关键词:

门德尔的随机化代谢产物的代谢物现象型现象型是一种表现型.多基因分数多基因分数虚拟的新陈代谢学

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