How much is blood pressure in the general population determined by rare mutations in renal salt-transporting proteins?

Journal of Nephrology

Volumn 21, Issue 5, 2008, Pages 632-634

  Wagner, Carsten A ^a  

^a UNIVERSITY OF ZURICH   (Switzerland)

Author keywords

Framingham Heart Study; Hypertension; Salt transport; Thick ascending limb

Indexed keywords

BARTTIN; FUROSEMIDE; GENE PRODUCT; POTASSIUM CHANNEL; PROTEIN CIC KB; RENAL OUTER MEDULLARY POTASSIUM CHANNEL; SODIUM CHLORIDE; SODIUM CHLORIDE COTRANSPORTER; SODIUM POTASSIUM CHLORIDE COTRANSPORTER; THIAZIDE DIURETIC AGENT; UNCLASSIFIED DRUG; BSND PROTEIN, HUMAN; CHLORIDE CHANNEL; INWARDLY RECTIFYING POTASSIUM CHANNEL; KCNJ1 PROTEIN, HUMAN;

ARTERIAL PRESSURE; ARTICLE; BARTTER SYNDROME; BLOOD PRESSURE REGULATION; DRUG TARGETING; GENE EXPRESSION; GENE FREQUENCY; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENE TARGETING; GENETIC VARIABILITY; GITELMAN SYNDROME; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HYPOTENSION; KIDNEY TUBULE ABSORPTION; MUTATIONAL ANALYSIS; RISK ASSESSMENT; SODIUM ABSORPTION; SODIUM DEPLETION; BLOOD PRESSURE; GENETICS; HYPERTENSION; KIDNEY; METABOLISM; MUTATION;

BARTTER SYNDROME; BLOOD PRESSURE; CHLORIDE CHANNELS; GITELMAN SYNDROME; HUMANS; HYPERTENSION; KIDNEY; MUTATION; POTASSIUM CHANNELS, INWARDLY RECTIFYING; SODIUM CHLORIDE; SODIUM CHLORIDE SYMPORTERS;

EID: 63249107732     PISSN: 11218428     EISSN: 17246059     Source Type: Journal    
DOI: None     Document Type: Article

References (12)

1. Guyton AC. Blood pressure control: special role of the kidneys and body fluids. Science. 1991;252:1813-1816.
2. Lifton RP, Gharavi AG, Geller DS. Molecular mechanisms of human hypertension. Cell. 2001;104:545-556.
3. Wilson FH, Disse-Nicodeme S, Choate KA, et al. Human hypertension caused by mutations in WNK kinases. Science. 2001;293:1107-1112.
4. Simon DB, Bindra RS, Mansfield TA, et al. Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. Nat Genet. 1997;17:171-178.
5. Simon DB, Karet FE, Rodriguez-Soriano J, et al. Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK. Nat Genet. 1996;14:152-156.
6. Simon DB, Karet FE, Hamdan JM, DiPietro A, Sanjad SA, Lifton RP. Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. Nat Genet. 1996;13:183-188.
7. Estevez R, Boettger T, Stein V, et al. Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion. Nature. 2001;414:558-561.
8. Schlingmann KP, Konrad M, Jeck N, et al. Salt wasting and deafness resulting from mutations in two chloride channels. N Engl J Med. 2004;350:1314-1319.
9. Simon DB, Nelson-Williams C, Bia MJ, et al. Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter. Nat Genet. 1996;12:24-30.
10. Cruz DN, Simon DB, Nelson-Williams C, et al. Mutations in the Na-Cl cotransporter reduce blood pressure in humans. Hypertension. 2001;37:1458-1464.
11. Ji W, Foo JN, O'Roak BJ, et al. Rare independent mutations in renal salt handling genes contribute to blood pressure variation. Nat Genet. 2008;40:592-599.
12. ALLHAT Officers and Coordinators for the ALLHAT Collaborative Research Group. Major outcomes in high-risk hypertensive patients randomized to angiotensin-converting enzyme inhibitor or calcium channel blocker vs diuretic: the Antihypertensive and Lipid-Lowering Treatment to Prevent Heart Attack Trial (ALLHAT). JAMA. 2002;288:2981-2997.