Chromatin State Maps of Blood Pressure-Relevant Renal Segments Reveal Potential Regulatory Role for SNPs.

Document Type

Article

Publication Date

3-1-2025

Keywords

JMG, Polymorphism, Single Nucleotide, Humans, Chromatin, Blood Pressure, Animals, Rats, Hypertension, Genome-Wide Association Study, Male, Kidney Tubules, Proximal, Kidney, Female

JAX Source

Hypertension. 2025;82(3):476-88.

ISSN

1524-4563

PMID

39723540

DOI

https://doi.org/10.1161/HYPERTENSIONAHA.124.23873

Abstract

BACKGROUND: Hypertension or elevated blood pressure (BP) is a worldwide clinical challenge and the leading primary risk factor for kidney dysfunctions, heart failure, and cerebrovascular disease. The kidney is a central regulator of BP by maintaining sodium-water balance. Multiple genome-wide association studies revealed that BP is a heritable quantitative trait, modulated by several genetic, epigenetic, and environmental factors. The SNPs identified in genome-wide association studies predominantly (>95%) reside within noncoding genomic regions, making it difficult to understand how they regulate BP. Given the central role of the kidney in regulating BP, we hypothesized that chromatin-accessible regions in renal tissue would be enriched for BP-associated single nucleotide polymorphisms.

METHODS: We manually dissected 2 important kidney segments that maintain the sodium-water balance: proximal tubules and medullary thick ascending limbs from the human and rat kidneys. To delineate their chromatin and transcriptomic profiles, we performed the assay for transposase-accessible chromatin and RNA sequencing, respectively.

RESULTS: The chromatin accessibility maps revealed the shared and unique

CONCLUSIONS: Collectively, this study lays a foundation for interrogating how intergenic single nucleotide polymorphisms may regulate polygenic traits such as BP.

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