Proteomic analysis of cells, tissues and body fluids has generated valuable insights into the complex processes influencing human biology. Proteins represent intermediate phenotypes for disease and provide insight into how genetic and non-genetic risk factors are mechanistically linked to clinical outcomes. Associations between protein levels and DNA sequence variants that colocalize with risk alleles for common diseases can expose disease-associated pathways, revealing novel drug targets and translational biomarkers. However, genome-wide, population-scale analyses of proteomic data are only now emerging. Here, we review current findings from studies of the plasma proteome and discuss their potential for advancing biomedical translation through the interpretation of genome-wide association analyses. We highlight the challenges faced by currently available technologies and provide perspectives relevant to their future application in large-scale biobank studies.

细胞、组织和体液的蛋白质组学分析对影响人类生物学的复杂过程产生了宝贵的见解。蛋白质代表疾病的中间表型，并提供有关遗传和非遗传风险因素如何与临床结果机械相关的见解。蛋白质水平和与常见疾病风险等位基因共定位的 DNA 序列变异之间的关联可以揭示疾病相关通路，揭示新的药物靶点和转化生物标志物。然而，蛋白质组学数据的全基因组、群体规模分析才刚刚出现。在这里，我们回顾了血浆蛋白质组研究的当前发现，并讨论了它们通过对全基因组关联分析的解释来推进生物医学翻译的潜力。