Case-control Study of the Role of the Gitelman's Syndrome Gene in Essential Hypertension

• AOI Noriko

  Division of Molecular Diagnostics, Department of Advanced Medical Science; Nihon University School of Medicine Division of Nephrology, Hypertension and Endocrinology, Department of Medicine; Nihon University School of Medicine

• NAKAYAMA Tomohiro

  Division of Molecular Diagnostics, Department of Advanced Medical Science; Nihon University School of Medicine Division of Nephrology, Hypertension and Endocrinology, Department of Medicine; Nihon University School of Medicine

• SATO Naoyuki

  Division of Molecular Diagnostics, Department of Advanced Medical Science; Nihon University School of Medicine

• KOSUGE Kotoko

  Division of Nephrology, Hypertension and Endocrinology, Department of Medicine; Nihon University School of Medicine

• HAKETA Akira

  Division of Nephrology, Hypertension and Endocrinology, Department of Medicine; Nihon University School of Medicine

• SATO Mikano

  Division of Molecular Diagnostics, Department of Advanced Medical Science; Nihon University School of Medicine Division of Nephrology, Hypertension and Endocrinology, Department of Medicine; Nihon University School of Medicine

• SOMA Masayoshi

  Division of General Medicine, Department of Medicine; Nihon University School of Medicine

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. Method: 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. Conclusion: We conclude that the causal gene of Gitelman's syndrome is not involved in determining blood pressure levels.<br>

Journal

• Endocrine Journal

  Endocrine Journal 55 (2), 305-310, 2008

  The Japan Endocrine Society

Keywords

• Essential hypertension
• Gitelman's syndrome
• Thiazide-sensitive Na (+)-Cl (-) cotransporter
• Single nucleotide polymorphism

Details

• CRID: 1390282681275585920
• NII Article ID: 10021265542
• NII Article ID: 130004443393
• NII Book ID: AA10901436
• DOI: 10.1507/endocrj.k07e-021
• ISSN: 13484540
• ISSN: 09188959
• Web Site: http://www.jstage.jst.go.jp/article/endocrj/55/2/55_K07E-021/_pdf
• Web Site: https://search.jamas.or.jp/link/ui/2008234283
• Text Lang: en
• Data Source:
  • JaLC
  • Crossref
  • CiNii Articles
• Abstract License Flag: Disallowed