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Identifying susceptibility genes for essential hypertension by transcriptome-wide association study
Lu-Jie Huang1, Qiao-Xia Zhang2, Robert K Valenzuela3
1Medical Research Center, Xi'an Key Laboratory of Cardiovascular and Cerebrovascular Diseases, Xi'an No.3 Hospital, Xi'an, Shaanxi, 710018, China.
Biochemistry and Biophysics Reports
|November 28, 2022
Summary
This study reveals a significant link between autoimmune mechanisms and hypertension, identifying novel genes involved in its development. These findings offer new insights into the molecular causes of high blood pressure.
Area of Science:
- Genetics and Cardiovascular Research
- Immunology and Disease Mechanisms
Background:
- Hypertension is a major global health risk, with genetic factors playing a key role.
- Genome-Wide Association Studies (GWAS) have identified numerous hypertension-associated loci, but functional interpretation remains challenging, especially for intergenic single nucleotide polymorphisms (SNPs).
Purpose of the Study:
- To investigate the genetic underpinnings of hypertension using Transcriptome-Wide Association Studies (TWAS).
- To explore the potential role of autoimmune mechanisms in hypertension development.
- To identify novel hypertension-susceptible genes and pathways.
Main Methods:
- Performed TWAS for hypertension using summary statistics from GWAS and gene expression data from 452,264 individuals (84,640 cases).
- Utilized KEGG and Gene Ontology (GO) enrichment analyses for identified genes.
- Conducted Protein-Protein Interaction (PPI) network analysis via the STRING database.
- Performed Mendelian randomization analysis to assess the association between autoimmunity and hypertension.
Main Results:
- Identified 1010 genes significantly associated with hypertension across four tissues (left heart ventricle, aorta, whole blood, peripheral blood) after False Discovery Rate (FDR) correction.
- Enrichment analyses indicated that pathways related to autoimmune mechanisms are significantly involved.
- Mendelian randomization supported a significant association between autoimmunity and hypertension.
- Discovered 15 novel hypertension-susceptible genes, with five (RBM6, HLA-DRB5, UHRF1BP1, LYZ, TMEM116) specifically linked to the autoimmune system.
Conclusions:
- The study provides strong evidence supporting an autoimmune mechanism in the development of hypertension.
- These findings contribute novel biological insights into the molecular etiology of hypertension.
- The identified genes and pathways offer potential targets for future research and therapeutic strategies.
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