The epithelial sodium channel γ-subunit gene and blood pressure: family based association, renal gene expression, and physiological analyses.

Cara J Büsst; Lisa D S Bloomer; Katrina J Scurrah; Justine A Ellis; Timothy A Barnes; Fadi J Charchar; Peter Braund; Paul N Hopkins; Nilesh J Samani; Steven C Hunt; Maciej Tomaszewski; Stephen B Harrap

doi:10.1161/HYPERTENSIONAHA.111.176370

The epithelial sodium channel γ-subunit gene and blood pressure: family based association, renal gene expression, and physiological analyses.

Cara J Büsst, Lisa D S Bloomer, Katrina J Scurrah, Justine A Ellis, Timothy A Barnes, Fadi J Charchar, Peter Braund, Paul N Hopkins, Nilesh J Samani, Steven C Hunt, Maciej Tomaszewski, Stephen B Harrap

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Abstract

Variants in the gene encoding the γ-subunit of the epithelial sodium channel (SCNN1G) are associated with both Mendelian and quantitative effects on blood pressure. Here, in 4 cohorts of 1611 white European families composed of a total of 8199 individuals, we undertook staged testing of candidate single-nucleotide polymorphisms for SCNN1G (supplemented with imputation based on data from the 1000 Genomes Project) followed by a meta-analysis in all of the families of the strongest candidate. We also examined relationships between the genotypes and relevant intermediate renal phenotypes, as well as expression of SCNN1G in human kidneys. We found that an intronic single-nucleotide polymorphism of SCNN1G (rs13331086) was significantly associated with age-, sex-, and body mass index-adjusted blood pressure in each of the 4 populations (P

Original language	English
Journal	Hypertension
Volume	58
Issue number	6
DOIs	https://doi.org/10.1161/HYPERTENSIONAHA.111.176370
Publication status	Published - Dec 2011

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10.1161/HYPERTENSIONAHA.111.176370

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Büsst, C. J., Bloomer, L. D. S., Scurrah, K. J., Ellis, J. A., Barnes, T. A., Charchar, F. J., Braund, P., Hopkins, P. N., Samani, N. J., Hunt, S. C., Tomaszewski, M., & Harrap, S. B. (2011). The epithelial sodium channel γ-subunit gene and blood pressure: family based association, renal gene expression, and physiological analyses. Hypertension, 58(6). https://doi.org/10.1161/HYPERTENSIONAHA.111.176370

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title = "The epithelial sodium channel γ-subunit gene and blood pressure: family based association, renal gene expression, and physiological analyses.",

abstract = "Variants in the gene encoding the γ-subunit of the epithelial sodium channel (SCNN1G) are associated with both Mendelian and quantitative effects on blood pressure. Here, in 4 cohorts of 1611 white European families composed of a total of 8199 individuals, we undertook staged testing of candidate single-nucleotide polymorphisms for SCNN1G (supplemented with imputation based on data from the 1000 Genomes Project) followed by a meta-analysis in all of the families of the strongest candidate. We also examined relationships between the genotypes and relevant intermediate renal phenotypes, as well as expression of SCNN1G in human kidneys. We found that an intronic single-nucleotide polymorphism of SCNN1G (rs13331086) was significantly associated with age-, sex-, and body mass index-adjusted blood pressure in each of the 4 populations (P",

author = "B{\"u}sst, \{Cara J\} and Bloomer, \{Lisa D S\} and Scurrah, \{Katrina J\} and Ellis, \{Justine A\} and Barnes, \{Timothy A\} and Charchar, \{Fadi J\} and Peter Braund and Hopkins, \{Paul N\} and Samani, \{Nilesh J\} and Hunt, \{Steven C\} and Maciej Tomaszewski and Harrap, \{Stephen B\}",

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Büsst, CJ, Bloomer, LDS, Scurrah, KJ, Ellis, JA, Barnes, TA, Charchar, FJ, Braund, P, Hopkins, PN, Samani, NJ, Hunt, SC, Tomaszewski, M & Harrap, SB 2011, 'The epithelial sodium channel γ-subunit gene and blood pressure: family based association, renal gene expression, and physiological analyses.', Hypertension, vol. 58, no. 6. https://doi.org/10.1161/HYPERTENSIONAHA.111.176370

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AU - Ellis, Justine A

AU - Barnes, Timothy A

AU - Charchar, Fadi J

AU - Braund, Peter

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AU - Samani, Nilesh J

AU - Hunt, Steven C

AU - Tomaszewski, Maciej

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JO - Hypertension

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The epithelial sodium channel γ-subunit gene and blood pressure: family based association, renal gene expression, and physiological analyses.

Abstract

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