全基因组关联研究血清肝酶提示多种代谢和肝脏病理。
Genome-wide association study of serum liver enzymes implicates diverse metabolic and liver pathology.
机构信息
Division of Gastroenterology and Hepatology, University of Michigan Health System, Ann Arbor, MI, USA.
Department of Computational Medicine and Bioinformatics, University of Michigan Medical School, Ann Arbor, MI, USA.
出版信息
Nat Commun. 2021 Feb 5;12(1):816. doi: 10.1038/s41467-020-20870-1.
Serum liver enzyme concentrations are the most frequently-used laboratory markers of liver disease, a major cause of mortality. We conduct a meta-analysis of genome-wide association studies of liver enzymes from UK BioBank and BioBank Japan. We identified 160 previously-unreported independent alanine aminotransferase, 190 aspartate aminotransferase, and 199 alkaline phosphatase genome-wide significant associations, with some affecting multiple different enzymes. Associated variants implicate genes that demonstrate diverse liver cell type expression and promote a range of metabolic and liver diseases. These findings provide insight into the pathophysiology of liver and other metabolic diseases that are associated with serum liver enzyme concentrations.
血清肝酶浓度是最常用的肝脏疾病实验室标志物之一，也是导致死亡率的主要原因之一。我们对来自英国生物银行和日本生物银行的肝酶全基因组关联研究进行了荟萃分析。我们鉴定出 160 个先前未报道的独立丙氨酸转氨酶、190 个天冬氨酸转氨酶和 199 个碱性磷酸酶全基因组显著关联，其中一些关联影响多种不同的酶。相关变异提示了具有不同肝细胞表达模式并促进多种代谢和肝脏疾病的基因。这些发现为与血清肝酶浓度相关的肝脏和其他代谢性疾病的病理生理学提供了深入了解。
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