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

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.

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