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

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

This study is currently recruiting participants.
Verified by Peking Union Medical College, May 2008

Sponsors and Collaborators:	Peking Union Medical College The Fourth People's Hospital of Xinyang, Henan province
Information provided by:	Peking Union Medical College
ClinicalTrials.gov Identifier:	NCT00448162

Purpose

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.

Condition

Hypertension

MedlinePlus related topics:

High Blood Pressure

U.S. FDA Resources

Study Type:	Observational
Study Design:	Cohort, Cross-Sectional

Further study details as provided by Peking Union Medical College:

Biospecimen Retention: Samples With DNA

Biospecimen Description:

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

Eligibility

Ages Eligible for Study:	8 Years to 70 Years
Genders Eligible for Study:	Both
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.

Criteria

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

Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT00448162

Contacts


Contact: Rutai Hui, PhD, MD	861068333902	huirutai@sglab.org

Locations


China
	FuWai Hospital	Recruiting
	Beijing, China, 100037
	Contact: Rutai Hui, PhD, MD 861068333902 huirutai@sglab.org
	Principal Investigator: Yibo Wang, PhD

Sponsors and Collaborators

Peking Union Medical College

The Fourth People's Hospital of Xinyang, Henan province

Investigators


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:	Fuwai Hospital ( Rutai Hui )
Study ID Numbers:	SGL-032-01
First Received:	March 15, 2007
Last Updated:	May 20, 2008
ClinicalTrials.gov Identifier:	NCT00448162
Health Authority:	China: Ministry of Health

Keywords provided by Peking Union Medical College:

hypertension, ENaC, Liddle's syndrome, variation

Study placed in the following topic categories:

Vascular Diseases

Hypertension

Additional relevant MeSH terms:

Cardiovascular Diseases

ClinicalTrials.gov processed this record on October 31, 2008