The Chinese Mutation Hotspot of ENaC Causing Liddle's Syndrome and the Association of ENaC Variations and Hypertension

Status

Suspended

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT00448162

Enrollment

2000

Registered

2007-03-16

Start date

2005-05-31

Completion date

2009-12-31

Last updated

2011-03-31

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Hypertension

Keywords

hypertension, ENaC, Liddle's syndrome, variation

Brief summary

The variations of ENaC have an impact on the degradation of epithelial sodium channels and sodium reabsorption, and thus are associated with hypertension and hypokalemia. Liddle's syndrome is a rare monogenic form of autosomal-dominant hypertension caused by truncating or missense mutations in the C-termini of epithelial sodium channel β- or γ-subunit encoded by SCNN1B or SCNN1G. Our purpose is to determine the hotspot of mutation causing Chinese Liddle's syndrome. The second purpose is to determine wether the polymorphisms of ENaC are associated with hypertension in Chinese. Some polymorphisms of ENaC associated with hypertension may be genetic risk factors for Chinese hypertension.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

CROSS_SECTIONAL

Eligibility

Sex/Gender

ALL

Age

8 Years to 70 Years

Healthy volunteers

Yes

Inclusion criteria

* Clinical diagnosis of hypertension and Liddle's syndrome * Clinical diagnosis of normal controls with no cardiovascular disease

Exclusion criteria

* Hypertension caused by other single gene mutation

Countries

China

Outcome results