Analysis of Mutations of HYDIN Gene Associated with Hypertension

Authors

Elaine Vanterpool, Oakwood University
Savania Simms, Oakwood University

Faculty Mentor

Dr. Elaine Vanterpool

Files

Description

Hypertension is when the pressure in blood vessels elevates to high numbers. It is a common occurrence, but if not treated can become serious. Hypertension is a complex trait influenced by genetic variants affecting blood pressure regulation, involved in ciliary function and cellular signaling, and has been implicated in hypertension susceptibility. This study aimed to investigate the functional impact of HYDIN gene mutations on hypertension risk. To predict functional consequences, bioinformatic tools were used: PolyPhen-2 (predicting variants as damaging) and SIFT (predicting variants as deleterious). Simple ClinVar database analysis revealed variants as pathogenic/likely pathogenic for hypertension-related traits. Variant classification and functional prediction correlated with increased blood pressure and target organ damage in hypertensive patients carrying predicted damaging variants. For the 3 mutations that were evaluated, SIFT analysis showed that variant V1238L was predicted most likely to affect protein function. This study demonstrates the utility of combining bioinformatic predictions with clinical associations to characterize functional HYDIN gene mutations in hypertension.

Publication Date

2025

City

Huntsville

Disciplines

Biology

Recommended Citation

Vanterpool, Elaine and Simms, Savania, "Analysis of Mutations of HYDIN Gene Associated with Hypertension" (2025). Student Posters. 70.
https://ouscholars.oakwood.edu/student-posters/70