Department of Genetics and Institute for Biomedical Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA.
Genomics and Computational Biology Graduate Group, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA.
Nat Commun. 2022 Jun 14;13(1):3428. doi: 10.1038/s41467-022-30678-w.
Clinical and epidemiological studies have shown that circulatory system diseases and nervous system disorders often co-occur in patients. However, genetic susceptibility factors shared between these disease categories remain largely unknown. Here, we characterized pleiotropy across 107 circulatory system and 40 nervous system traits using an ensemble of methods in the eMERGE Network and UK Biobank. Using a formal test of pleiotropy, five genomic loci demonstrated statistically significant evidence of pleiotropy. We observed region-specific patterns of direction of genetic effects for the two disease categories, suggesting potential antagonistic and synergistic pleiotropy. Our findings provide insights into the relationship between circulatory system diseases and nervous system disorders which can provide context for future prevention and treatment strategies.
临床和流行病学研究表明，循环系统疾病和神经系统疾病经常在患者中同时发生。然而，这些疾病类别之间共同的遗传易感性因素在很大程度上仍然未知。在这里，我们使用 eMERGE 网络和英国生物库中的一组方法来描述 107 种循环系统和 40 种神经系统特征的多效性。使用多效性的正式检验，五个基因组位点表现出多效性的统计学显著证据。我们观察到两种疾病类别的遗传效应方向的区域特异性模式，表明存在潜在的拮抗和协同多效性。我们的研究结果为循环系统疾病和神经系统疾病之间的关系提供了深入的了解，这可为未来的预防和治疗策略提供依据。
