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

This study has suspended participant recruitment.
(no enough fund)
Information provided by:
Peking Union Medical College Identifier:
First received: March 15, 2007
Last updated: March 30, 2011
Last verified: May 2009

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.


Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Cross-Sectional

Resource links provided by NLM:

Further study details as provided by Peking Union Medical College:

Estimated Enrollment: 2000
Study Start Date: May 2005
Estimated Study Completion Date: December 2009

Ages Eligible for Study:   8 Years to 70 Years   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Patients were defined as being hypertensive if they had systolic and/or diastolic BP levels >=140/90mm Hg on three occasions within 2 months and if they were without any antihypertensive treatment, and/or if they had been diagnosed as being hypertensive in the past and were currently receiving antihypertensive medications. The normotensive controls were defined as having systolic and/or diastolic BP levels <130/85mm Hg and with no family history of hypertension. Patients were excluded when they had any known renal diseases or secondary hypertension.

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
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Please refer to this study by its identifier: NCT00448162

China, Beijing
FuWai Hospital
Beijing, Beijing, China, 100037
Sponsors and Collaborators
Peking Union Medical College
Study Director: Rutai Hui, PhD, MD Key Laboratory for Clinical Cardiovascular Genetics, Ministry of Education, China & Sino-German Laboratory for Molecular Medicine,
  More Information

Responsible Party: Rutai Hui, Fuwai Hospital Identifier: NCT00448162     History of Changes
Other Study ID Numbers: SGL-032-01
Study First Received: March 15, 2007
Last Updated: March 30, 2011

Keywords provided by Peking Union Medical College:
hypertension, ENaC, Liddle's syndrome, variation

Additional relevant MeSH terms:
Liddle Syndrome
Vascular Diseases
Cardiovascular Diseases
Renal Tubular Transport, Inborn Errors
Kidney Diseases
Urologic Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases processed this record on September 21, 2017