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


Wagner, C A (2008). How much is blood pressure in the general population determined by rare mutations in renal salt-transporting proteins? Journal of Nephrology, 21(5):632-634.

Abstract

Rare mutations in genes affecting renal salt handling cause various syndromes of hypotension and hypertension and have produced important insights into major physiological processes and their regulation. However, the question arises whether these mutations may also affect blood pressure in a more general population and may contribute to the complex control of arterial blood pressure. The group of R. Lifton has demonstrated in a large cohort from the Framingham Heart Study that inactivating mutations in several proteins mediating renal salt reabsorption in the heterozygous state are associated with significantly lower blood pressure. The frequency of such alleles may be much higher in the general population than previously anticipated and may explain at least in part the complex genetics of human hypertension.

Rare mutations in genes affecting renal salt handling cause various syndromes of hypotension and hypertension and have produced important insights into major physiological processes and their regulation. However, the question arises whether these mutations may also affect blood pressure in a more general population and may contribute to the complex control of arterial blood pressure. The group of R. Lifton has demonstrated in a large cohort from the Framingham Heart Study that inactivating mutations in several proteins mediating renal salt reabsorption in the heterozygous state are associated with significantly lower blood pressure. The frequency of such alleles may be much higher in the general population than previously anticipated and may explain at least in part the complex genetics of human hypertension.

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Additional indexing

Item Type:Journal Article, refereed, further contribution
Communities & Collections:04 Faculty of Medicine > Center for Integrative Human Physiology
04 Faculty of Medicine > Institute of Physiology
07 Faculty of Science > Institute of Physiology
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Language:English
Date:September 2008
Deposited On:17 Dec 2008 14:38
Last Modified:05 Apr 2016 12:43
Publisher:Wichtig Editore
ISSN:1121-8428
Official URL:http://www.jnephrol.com/public/JN/Article/Articleabstract.aspx?UidArticle=A0E41FB6-F2DA-4B54-A688-7B32B51BCB7E&t=JN
PubMed ID:18949716
Permanent URL: http://doi.org/10.5167/uzh-8523

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