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通过遗传学和疾病关联进行大规模的血蛋白质组学比较
Grimur Hjorleifsson Eldjarn1, Egil Ferkingstad1, Sigrun H Lund1,2
1deCODE Genetics/Amgen, Reykjavik, Iceland.
Nature
|October 4, 2023
概括
像Olink和SomaScan这样的高通量蛋白质组学平台通过将蛋白质与基因连接提供了疾病的洞察力. 虽然两种平台都检测出相似数量的遗传关联,但Olink显示出更高的测试验证率,突出了疾病研究的平台差异.
科学领域:
- 蛋白质组学
- 基因组学
- 生物医学研究
背景情况:
- 高通量蛋白质组学,基因组学和表型数据集成可以阐明基因组与疾病的联系.
- 英国生物银行药物蛋白质组学项目提供了大量的血蛋白质组学数据.
研究的目的:
- 使用英国生物银行和冰岛队伍对比Olink Explore 3072和SomaScan v4平台.
- 评估平台在不同祖先中检测 cis 蛋白质定量特征位点 (pQTL) 的性能.
- 评估平台差异如何影响疾病关联研究.
主要方法:
- 关于Olink Explore 3072数据的协会研究来自英国/爱尔兰,非洲和南亚祖先的5万名英国生物库参与者.
- 与36000名冰岛人的SomaScan v4数据进行比较,其中1514人使用了Olink数据.
- 根据祖先分层的cis-pQTL和基因组关联的分析.
主要成果:
- 在 Olink 和 SomaScan 平台之间观察到适度的相关性.
- 检测到的cis-pQTL绝对数量相似 (Olink: 2,101; SomaScan: 2,120),但Olink显示了更高的验证试验比例 (72%对43%).
- 在多种蛋白质的基因组关联中发现了显著的差异,可能会影响疾病研究的结论.
- 在英国生物库中利用多样化的祖先增强了新的关联检测和基因组定位.
结论:
- 奥林克和索马扫描都是有价值的高通量蛋白质组学平台,但具有不同的特点.
- 平台上的差异可能会影响研究成果,需要在综合分析中仔细考虑.
- 使用多样化的祖先对于强大的蛋白质基因组关联研究至关重要.
- 平台之间的互补性可以增强生物见解的深度和广度.
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