The SCNNIA gene, which is located on @entity1 chromosome 12p13.3, encodes the alpha subunit of the @entity6478 -sensitive epithelial @entity1372 channel, and mutations in SCNNIA can result in @entity28178 . It was postulated that genetic variations in @entity26989 could lead to an increased risk of @entity101 . Sequence variations in @entity26989 were identified, and the association between these polymorphisms and BP was examined in a large cohort (n = 3898) representing the general population in Japan. Four polymorphisms in the promoter region, three polymorphisms in the exonic region, and one polymorphism in the first intron were identified. Because association studies with one-half of the study population indicated that the A(2139)G polymorphism, among others, significantly affected BP, this polymorphism was studied in the entire study population. Multiple logistic analyses indicated that the odds ratio for @entity101 with the GA+GG genotype was 1.31 (P = 0.0154) in the total population and 1.77 (P = 0.0035) among subjects <60 yr of age. A significantly higher frequency of @entity644 was also observed among subjects with the GA+GG genotype. A transient transfection assay using MDCK cells indicated that the promoter activity of the G(2139) allele was higher than that of the A(2139) allele. Therefore, possession of the @entity26989 G(2139) allele significantly increased the risk of @entity101 . A lower level of @entity26989 subunit expression among subjects with the AA genotype might lead to lower levels of @entity1372 reabsorption in the kidney and might provide protection against the development of @entity101 .

Association of a XXXX channel alpha subunit promoter variant with blood pressure.

@entity1 :: ('9606', 'Species') :: ['human'] @entity644 :: ('MESH:D011507', 'Disease') :: ['proteinuria'] @entity101 :: ('MESH:D006973', 'Disease') :: ['hypertension'] @entity1372 :: ('MESH:D012964', 'Chemical') :: ['sodium'] @entity6478 :: ('MESH:D000584', 'Chemical') :: ['amiloride'] @entity26989 :: ('6337', 'Gene') :: ['SCNN1A'] @entity28178 :: ('MESH:D011546', 'Disease') :: ['pseudohypoaldosteronism type I']
@entity1372 :: (MESH:D012964,Chemical) :: ['sodium']
