Case-control study of the role of the Gitelman's syndrome gene in essential hypertension.
BACKGROUND
Gitelman's syndrome is an inherited tubular disorder characterized by sodium wasting, low blood pressure, secondary hyperaldosteronism, metabolic alkalosis, hypokalemia, hypomagnesemia of renal origin, and hypocalciuria. The majority of patients with this syndrome carry inactivating mutations in the SLC12A3 gene encoding the thiazide-sensitive Na (+)-Cl (-) cotransporter (NCC) located in the distal convoluted tubule, which is involved in renal sodium reabsorption. This suggests that the SLC12A3 gene is involved in mediation of blood pressure levels. The aim of the present study was to investigate relationships between single nucleotide polymorphisms (SNPs) in the human SLC12A3 gene and essential hypertension (EH) in Japanese.


METHODS
We selected 3 SNPs in the human SLC12A3 gene (T180K, A569V, L849H), and performed a case-control study of 315 EH patients and 305 normotensive (NT) individuals.


RESULTS
There was no significant difference in overall distribution of genotypes or alleles of any of the SNPs between the EH and NT groups.


CONCLUSIONS
We conclude that the causal gene of Gitelman's syndrome is not involved in determining blood pressure levels.
Aoi
Noriko
N
Division of Molecular Diagnostics, Department of Advanced Medical Science, Nihon University School of Medicine, Tokyo, Japan.
Nakayama
Tomohiro
T
Sato
Naoyuki
N
Kosuge
Kotoko
K
Haketa
Akira
A
Sato
Mikano
M
Soma
Masayoshi
M
D000328:Adult; D000483:Alleles; D044466:Asian People / Q000235:genetics; D001794:Blood Pressure / Q000235:genetics; D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D053579:Gitelman Syndrome / Q000208:ethnology / Q000235:genetics*; D006801:Humans; D006973:Hypertension / Q000208:ethnology / Q000235:genetics*; D007564:Japan; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011955:Receptors, Drug / Q000235:genetics*; D064486:Solute Carrier Family 12, Member 3; D027981:Symporters / Q000235:genetics*
D011955:Receptors, Drug; C578874:SLC12A3 protein, human; D064486:Solute Carrier Family 12, Member 3; D027981:Symporters