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Prostasin: a possible candidate gene for human hypertension
Haidong Zhu1, Dehuang Guo, Ke Li
1Georgia Prevention Institute, Department of Pediatrics, Medical College of Georgia, Augusta, Georgia, USA.
American Journal of Hypertension
|June 28, 2008
Summary
Genetic variations in the prostasin gene are linked to elevated blood pressure (BP) and pulse wave velocity in adolescents. This suggests prostasin as a potential factor in hypertension development.
Area of Science:
- Nephrology
- Genetics
- Cardiovascular Physiology
Background:
- Prostasin, a serine protease, regulates the epithelial sodium channel (ENaC) in the kidney.
- ENaC plays a crucial role in blood pressure regulation.
Purpose of the Study:
- To investigate the human prostasin gene as a potential genetic factor contributing to elevated blood pressure.
- To examine the association between prostasin gene variations and blood pressure in diverse racial groups.
Main Methods:
- Identified race-specific tagging single-nucleotide polymorphisms (tSNPs) for the prostasin gene in African-American and European-American twins.
- Genotyped 920 healthy adolescent subjects for the selected tSNPs, including rs12597511.
- Measured systolic blood pressure (SBP), diastolic blood pressure (DBP), and pulse wave velocity (PWV).
Main Results:
- The rs12597511 (C to T) polymorphism was associated with significantly higher SBP and DBP in both African-American and European-American subjects.
- Individuals with CT and TT genotypes for rs12597511 exhibited increased SBP and DBP compared to CC genotype.
- Increased radial pulse wave velocity (PWV) was observed in subjects with CT and TT genotypes, particularly in European-Americans.
Conclusions:
- Genetic variations in the prostasin gene are associated with blood pressure and vascular stiffness in adolescents.
- The prostasin gene is a potential candidate gene implicated in the development of hypertension.
- These findings highlight the role of prostasin in blood pressure regulation and suggest potential therapeutic targets.
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