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Common variants in genes underlying monogenic hypertension and hypotension and blood pressure in the general population

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Common variants in genes underlying monogenic hypertension and hypotension and blood pressure in the general population. / Tobin, Martin D.; Tomaszewski, Maciej; Braund, Peter S.; Hajat, Cother; Raleigh, Stuart M.; Palmer, Thomas M.; Caulfield, Mark; Burton, Paul R.; Samani, Nilesh J.

In: Hypertension, Vol. 51, No. 6, 06.2008, p. 1658-1664.

Research output: Contribution to journalJournal articlepeer-review

Harvard

Tobin, MD, Tomaszewski, M, Braund, PS, Hajat, C, Raleigh, SM, Palmer, TM, Caulfield, M, Burton, PR & Samani, NJ 2008, 'Common variants in genes underlying monogenic hypertension and hypotension and blood pressure in the general population', Hypertension, vol. 51, no. 6, pp. 1658-1664. https://doi.org/10.1161/HYPERTENSIONAHA.108.112664

APA

Tobin, M. D., Tomaszewski, M., Braund, P. S., Hajat, C., Raleigh, S. M., Palmer, T. M., Caulfield, M., Burton, P. R., & Samani, N. J. (2008). Common variants in genes underlying monogenic hypertension and hypotension and blood pressure in the general population. Hypertension, 51(6), 1658-1664. https://doi.org/10.1161/HYPERTENSIONAHA.108.112664

Vancouver

Author

Tobin, Martin D. ; Tomaszewski, Maciej ; Braund, Peter S. ; Hajat, Cother ; Raleigh, Stuart M. ; Palmer, Thomas M. ; Caulfield, Mark ; Burton, Paul R. ; Samani, Nilesh J. / Common variants in genes underlying monogenic hypertension and hypotension and blood pressure in the general population. In: Hypertension. 2008 ; Vol. 51, No. 6. pp. 1658-1664.

Bibtex

@article{f83b750080b54f34965f5ae8a10fcff5,
title = "Common variants in genes underlying monogenic hypertension and hypotension and blood pressure in the general population",
abstract = "The genes responsible for several monogenic hypertensive and hypotensive disorders have been identified. Our aim was to evaluate whether common variants in these genes affect blood pressure in the general population. We studied 2037 adults from 520 nuclear families characterized for 24-hour ambulatory blood pressure and related cardiovascular traits. We genotyped 298 tagging and putative functional single nucleotide polymorphisms, achieving a median coverage of 82.4% across 11 candidate loci. Five polymorphisms in the KCNJ1 gene coding for the potassium channel, ROMK, showed associations with mean 24-hour systolic or diastolic blood pressure. The strongest association was with an intronic polymorphism, rs2846679, where the minor allele (frequency 16%) was associated with a -1.58 (95% CI -2.47 to -0.69) mm Hg change in mean 24-hour systolic blood pressure, after accounting for age, sex, and familial correlations (P=0.00048). Polymorphisms in the gene were also associated with clinic blood pressure and left ventricular mass as assessed by ECG Sokolow-Lyon voltage (P=0.0081 for rs675759). Associations with mean 24-hour systolic or diastolic blood pressure were also observed for variants in CASR, NR3C2, SCNN1B, and SCNN1G. The findings show that common variants in genes responsible for some Mendelian disorders of hypertension and hypotension affect blood pressure in the general population. Notably, variants in KCNJ1, which causes Bartter syndrome type 2, were strongly associated, potentially providing a novel target for intervention.",
keywords = "Adolescent, Adult, Blood Pressure, Epithelial Sodium Channels, Family Health, Female, Genetic Predisposition to Disease, Genetic Variation, Genotype, Humans, Hypertension, Hypotension, Male, Middle Aged, Polymorphism, Single Nucleotide, Potassium Channels, Inwardly Rectifying, Receptors, Calcium-Sensing, Receptors, Mineralocorticoid, Risk Factors",
author = "Tobin, {Martin D.} and Maciej Tomaszewski and Braund, {Peter S.} and Cother Hajat and Raleigh, {Stuart M.} and Palmer, {Thomas M.} and Mark Caulfield and Burton, {Paul R.} and Samani, {Nilesh J.}",
year = "2008",
month = jun,
doi = "10.1161/HYPERTENSIONAHA.108.112664",
language = "English",
volume = "51",
pages = "1658--1664",
journal = "Hypertension",
issn = "0194-911X",
publisher = "Lippincott Williams and Wilkins",
number = "6",

}

RIS

TY - JOUR

T1 - Common variants in genes underlying monogenic hypertension and hypotension and blood pressure in the general population

AU - Tobin, Martin D.

AU - Tomaszewski, Maciej

AU - Braund, Peter S.

AU - Hajat, Cother

AU - Raleigh, Stuart M.

AU - Palmer, Thomas M.

AU - Caulfield, Mark

AU - Burton, Paul R.

AU - Samani, Nilesh J.

PY - 2008/6

Y1 - 2008/6

N2 - The genes responsible for several monogenic hypertensive and hypotensive disorders have been identified. Our aim was to evaluate whether common variants in these genes affect blood pressure in the general population. We studied 2037 adults from 520 nuclear families characterized for 24-hour ambulatory blood pressure and related cardiovascular traits. We genotyped 298 tagging and putative functional single nucleotide polymorphisms, achieving a median coverage of 82.4% across 11 candidate loci. Five polymorphisms in the KCNJ1 gene coding for the potassium channel, ROMK, showed associations with mean 24-hour systolic or diastolic blood pressure. The strongest association was with an intronic polymorphism, rs2846679, where the minor allele (frequency 16%) was associated with a -1.58 (95% CI -2.47 to -0.69) mm Hg change in mean 24-hour systolic blood pressure, after accounting for age, sex, and familial correlations (P=0.00048). Polymorphisms in the gene were also associated with clinic blood pressure and left ventricular mass as assessed by ECG Sokolow-Lyon voltage (P=0.0081 for rs675759). Associations with mean 24-hour systolic or diastolic blood pressure were also observed for variants in CASR, NR3C2, SCNN1B, and SCNN1G. The findings show that common variants in genes responsible for some Mendelian disorders of hypertension and hypotension affect blood pressure in the general population. Notably, variants in KCNJ1, which causes Bartter syndrome type 2, were strongly associated, potentially providing a novel target for intervention.

AB - The genes responsible for several monogenic hypertensive and hypotensive disorders have been identified. Our aim was to evaluate whether common variants in these genes affect blood pressure in the general population. We studied 2037 adults from 520 nuclear families characterized for 24-hour ambulatory blood pressure and related cardiovascular traits. We genotyped 298 tagging and putative functional single nucleotide polymorphisms, achieving a median coverage of 82.4% across 11 candidate loci. Five polymorphisms in the KCNJ1 gene coding for the potassium channel, ROMK, showed associations with mean 24-hour systolic or diastolic blood pressure. The strongest association was with an intronic polymorphism, rs2846679, where the minor allele (frequency 16%) was associated with a -1.58 (95% CI -2.47 to -0.69) mm Hg change in mean 24-hour systolic blood pressure, after accounting for age, sex, and familial correlations (P=0.00048). Polymorphisms in the gene were also associated with clinic blood pressure and left ventricular mass as assessed by ECG Sokolow-Lyon voltage (P=0.0081 for rs675759). Associations with mean 24-hour systolic or diastolic blood pressure were also observed for variants in CASR, NR3C2, SCNN1B, and SCNN1G. The findings show that common variants in genes responsible for some Mendelian disorders of hypertension and hypotension affect blood pressure in the general population. Notably, variants in KCNJ1, which causes Bartter syndrome type 2, were strongly associated, potentially providing a novel target for intervention.

KW - Adolescent

KW - Adult

KW - Blood Pressure

KW - Epithelial Sodium Channels

KW - Family Health

KW - Female

KW - Genetic Predisposition to Disease

KW - Genetic Variation

KW - Genotype

KW - Humans

KW - Hypertension

KW - Hypotension

KW - Male

KW - Middle Aged

KW - Polymorphism, Single Nucleotide

KW - Potassium Channels, Inwardly Rectifying

KW - Receptors, Calcium-Sensing

KW - Receptors, Mineralocorticoid

KW - Risk Factors

U2 - 10.1161/HYPERTENSIONAHA.108.112664

DO - 10.1161/HYPERTENSIONAHA.108.112664

M3 - Journal article

C2 - 18443236

VL - 51

SP - 1658

EP - 1664

JO - Hypertension

JF - Hypertension

SN - 0194-911X

IS - 6

ER -