title: Case-control study of the role of the Gitelman's syndrome gene in essential hypertension.
abstract: 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.
authors: Division of Molecular Diagnostics, Department of Advanced Medical Science, Nihon University School of Medicine, Tokyo, Japan.
authors: Noriko
authors: N
authors: Aoi
authors: Tomohiro
authors: T
authors: Nakayama
authors: Naoyuki
authors: N
authors: Sato
authors: Kotoko
authors: K
authors: Kosuge
authors: Akira
authors: A
authors: Haketa
authors: Mikano
authors: M
authors: Sato
authors: Masayoshi
authors: M
authors: Soma
mesh_terms: 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*
chemical_list: D011955:Receptors, Drug; C578874:SLC12A3 protein, human; D064486:Solute Carrier Family 12, Member 3; D027981:Symporters