Nature publication reveals the genetic mechanism of hypertension

Everyone is familiar with hypertension.

Research on the pathogenesis of hypertension has never stopped.

Recently, the Maciej Tomaszewski team of the University of Manchester in the United Kingdom published an article entitled "Uncovering genetic mechanisms of hypertension through multi-omic analysis of the kidney" in the world-class academic journal Nature Genetics.

In this study, the research team used samples collected after selective nephrectomy or before kidney transplantation to establish the largest human kidney database, integrating up to 430 human kidney genotypes, gene expression, and alternative splicing.

Cis-eQTL analysis of human kidney and genetic variants identified in BP-GWAS

Subsequently, the researchers explored the relationship between kidney gene alternative splicing and DNA methylation and blood pressure.

In addition, the researchers detected a large number of kidney DNA methylation signatures at BP-related sites in GWASs, and proved that about half are located in the region near the transcription start site.

Analysis of cis-sQTL and cis-mQTL of human kidney and its variants in BP-GWASs

Finally, the researchers analyzed the co-localization of BP-GWAS and renal QTL signals and the MR analysis of renal eGenes, sGenes, mGenes and BP.

Most of these genes have not yet established a physiological connection with BP, human hypertension or kidneys, but many genes play important biological roles in the cardiovascular and renal systems, and their correlation is still unclear.

Co-localization and MR analysis

In short, this study reveals the molecular mechanism of hypertension embedded in the kidney, which will help improve the accuracy of patient-centered hypertension diagnosis and the advent of new targeted strategies for lowering blood pressure in the future, and accelerate the progress of precision medicine.

Reference materials:

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