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Genome-wide mapping of human loci for essential hypertension

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Genome-wide mapping of human loci for essential hypertension. / Caulfield, Mark; Munroe, Patricia; Pembroke, Janine et al.
In: The Lancet, Vol. 361, No. 9375, 21.06.2003, p. 2118-2123.

Research output: Contribution to Journal/Magazine › Journal article › peer-review

Harvard

Caulfield, M, Munroe, P, Pembroke, J, Samani, N, Dominiczak, A, Brown, M, Benjamin, N, Webster, J, Ratcliffe, P, O'Shea, S, Papp, J, Taylor, E, Dobson, R, Knight, J, Newhouse, S, Hooper, J, Lee, W, Brain, N, Clayton, D, Lathrop, GM, Farrall, M, Connell, J & MRC British Genetics of Hypertension Study 2003, 'Genome-wide mapping of human loci for essential hypertension', The Lancet, vol. 361, no. 9375, pp. 2118-2123. https://doi.org/10.1016/S0140-6736(03)13722-1

APA

Caulfield, M., Munroe, P., Pembroke, J., Samani, N., Dominiczak, A., Brown, M., Benjamin, N., Webster, J., Ratcliffe, P., O'Shea, S., Papp, J., Taylor, E., Dobson, R., Knight, J., Newhouse, S., Hooper, J., Lee, W., Brain, N., Clayton, D., ... MRC British Genetics of Hypertension Study (2003). Genome-wide mapping of human loci for essential hypertension. The Lancet, 361(9375), 2118-2123. https://doi.org/10.1016/S0140-6736(03)13722-1

Vancouver

Caulfield M, Munroe P, Pembroke J, Samani N, Dominiczak A, Brown M et al. Genome-wide mapping of human loci for essential hypertension. The Lancet. 2003 Jun 21;361(9375):2118-2123. Epub 2003 Jun 19. doi: 10.1016/S0140-6736(03)13722-1

Author

Caulfield, Mark ; Munroe, Patricia ; Pembroke, Janine et al. / Genome-wide mapping of human loci for essential hypertension. In: The Lancet. 2003 ; Vol. 361, No. 9375. pp. 2118-2123.

Bibtex

@article{3ba01aac07e742a6875a6f19233b3943,
title = "Genome-wide mapping of human loci for essential hypertension",
abstract = "BACKGROUND: Blood pressure may contribute to 50% of the global cardiovascular disease epidemic. By understanding the genes predisposing to common disorders such as human essential hypertension we may gain insights into novel pathophysiological mechanisms and potential therapeutic targets. In the Medical Research Council BRItish Genetics of HyperTension (BRIGHT) study, we aim to identify these genetic factors by scanning the human genome for susceptibility genes for essential hypertension. We describe the results of a genome scan for hypertension in a large white European population.METHODS: We phenotyped 2010 affected sibling pairs drawn from 1599 severely hypertensive families, and completed a 10 centimorgan genome-wide scan. After rigorous quality control, we analysed the genotypic data by non-parametric linkage, which tests whether genes are shared in excess among the affected sibling pairs. Lod scores, calculated at regular points along each chromosome, were used to assess the support for linkage.FINDINGS: Linkage analysis identified a principle locus on chromosome 6q, with a lod score of 3.21 that attained genome-wide significance (p=0.042). The inclusion of three further loci with lod scores higher than 1.57 (2q, 5q, and 9q) also show genome-wide significance (p=0.017) when assessed under a locus-counting analysis.INTERPRETATION: These findings imply that human essential hypertension has an oligogenic element (a few genes may be involved in determination of the trait) possibly superimposed on more minor genetic effects, and that several genes may be tractable to a positional cloning strategy.",
keywords = "Chromosome Mapping, Female, Genetic Linkage, Genetic Predisposition to Disease, Genotype, Humans, Hypertension, Lod Score, Male, Middle Aged, Phenotype, Siblings",
author = "Mark Caulfield and Patricia Munroe and Janine Pembroke and Nilesh Samani and Anna Dominiczak and Morris Brown and Nigel Benjamin and John Webster and Peter Ratcliffe and Suzanne O'Shea and Jeanette Papp and Elizabeth Taylor and Richard Dobson and Joanne Knight and Stephen Newhouse and Joel Hooper and Wai Lee and Nick Brain and David Clayton and Lathrop, {G Mark} and Martin Farrall and John Connell and {MRC British Genetics of Hypertension Study}",
year = "2003",
month = jun,
day = "21",
doi = "10.1016/S0140-6736(03)13722-1",
language = "English",
volume = "361",
pages = "2118--2123",
journal = "The Lancet",
issn = "0140-6736",
publisher = "Lancet Publishing Group",
number = "9375",

}

RIS

TY - JOUR

T1 - Genome-wide mapping of human loci for essential hypertension

AU - Caulfield, Mark

AU - Munroe, Patricia

AU - Pembroke, Janine

AU - Samani, Nilesh

AU - Dominiczak, Anna

AU - Brown, Morris

AU - Benjamin, Nigel

AU - Webster, John

AU - Ratcliffe, Peter

AU - O'Shea, Suzanne

AU - Papp, Jeanette

AU - Taylor, Elizabeth

AU - Dobson, Richard

AU - Knight, Joanne

AU - Newhouse, Stephen

AU - Hooper, Joel

AU - Lee, Wai

AU - Brain, Nick

AU - Clayton, David

AU - Lathrop, G Mark

AU - Farrall, Martin

AU - Connell, John

AU - MRC British Genetics of Hypertension Study

PY - 2003/6/21

Y1 - 2003/6/21

N2 - BACKGROUND: Blood pressure may contribute to 50% of the global cardiovascular disease epidemic. By understanding the genes predisposing to common disorders such as human essential hypertension we may gain insights into novel pathophysiological mechanisms and potential therapeutic targets. In the Medical Research Council BRItish Genetics of HyperTension (BRIGHT) study, we aim to identify these genetic factors by scanning the human genome for susceptibility genes for essential hypertension. We describe the results of a genome scan for hypertension in a large white European population.METHODS: We phenotyped 2010 affected sibling pairs drawn from 1599 severely hypertensive families, and completed a 10 centimorgan genome-wide scan. After rigorous quality control, we analysed the genotypic data by non-parametric linkage, which tests whether genes are shared in excess among the affected sibling pairs. Lod scores, calculated at regular points along each chromosome, were used to assess the support for linkage.FINDINGS: Linkage analysis identified a principle locus on chromosome 6q, with a lod score of 3.21 that attained genome-wide significance (p=0.042). The inclusion of three further loci with lod scores higher than 1.57 (2q, 5q, and 9q) also show genome-wide significance (p=0.017) when assessed under a locus-counting analysis.INTERPRETATION: These findings imply that human essential hypertension has an oligogenic element (a few genes may be involved in determination of the trait) possibly superimposed on more minor genetic effects, and that several genes may be tractable to a positional cloning strategy.

AB - BACKGROUND: Blood pressure may contribute to 50% of the global cardiovascular disease epidemic. By understanding the genes predisposing to common disorders such as human essential hypertension we may gain insights into novel pathophysiological mechanisms and potential therapeutic targets. In the Medical Research Council BRItish Genetics of HyperTension (BRIGHT) study, we aim to identify these genetic factors by scanning the human genome for susceptibility genes for essential hypertension. We describe the results of a genome scan for hypertension in a large white European population.METHODS: We phenotyped 2010 affected sibling pairs drawn from 1599 severely hypertensive families, and completed a 10 centimorgan genome-wide scan. After rigorous quality control, we analysed the genotypic data by non-parametric linkage, which tests whether genes are shared in excess among the affected sibling pairs. Lod scores, calculated at regular points along each chromosome, were used to assess the support for linkage.FINDINGS: Linkage analysis identified a principle locus on chromosome 6q, with a lod score of 3.21 that attained genome-wide significance (p=0.042). The inclusion of three further loci with lod scores higher than 1.57 (2q, 5q, and 9q) also show genome-wide significance (p=0.017) when assessed under a locus-counting analysis.INTERPRETATION: These findings imply that human essential hypertension has an oligogenic element (a few genes may be involved in determination of the trait) possibly superimposed on more minor genetic effects, and that several genes may be tractable to a positional cloning strategy.

KW - Chromosome Mapping

KW - Female

KW - Genetic Linkage

KW - Genetic Predisposition to Disease

KW - Genotype

KW - Humans

KW - Hypertension

KW - Lod Score

KW - Male

KW - Middle Aged

KW - Phenotype

KW - Siblings

U2 - 10.1016/S0140-6736(03)13722-1

DO - 10.1016/S0140-6736(03)13722-1

M3 - Journal article

C2 - 12826435

VL - 361

SP - 2118

EP - 2123

JO - The Lancet

JF - The Lancet

SN - 0140-6736

IS - 9375

ER -