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

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

SUSPENDED

Total Enrollment

2000 participants

Study Classification

OBSERVATIONAL

Study Start Date

2005-05-31

Study Completion Date

2009-12-31

Brief Summary

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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.

Detailed Description

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Conditions

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Hypertension

Keywords

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hypertension, ENaC, Liddle's syndrome, variation

Study Design

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Observational Model Type

COHORT

Study Time Perspective

CROSS_SECTIONAL

Eligibility Criteria

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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

Minimum Eligible Age

8 Years

Maximum Eligible Age

70 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Responsible Party

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Fuwai Hospital

Principal Investigators

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Rutai Hui, PhD, MD

Role: STUDY_DIRECTOR

Key Laboratory for Clinical Cardiovascular Genetics, Ministry of Education, China & Sino-German Laboratory for Molecular Medicine,

Locations

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FuWai Hospital

Beijing, Beijing Municipality, China

Site Status

Countries

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China

Other Identifiers

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SGL-032-01

Identifier Type: -

Identifier Source: org_study_id