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Cited by 405

The DOI matches its Crossref record; 37 of the 37 references it cites were found in a registry or an index.

Genome-Wide Association Study of Blood Pressure Extremes Identifies Variant near UMOD Associated with Hypertension

Open access
Padmanabhan, Sandosh, Melander, Olle, Johnson, Toby, Di Blasio, Anna Maria, Lee, Wai K., Gentilini, Davide, Hastie, Claire E., Menni, Cristina, Monti, Maria Cristina, Delles, Christian, Laing, Stewart, Corso, Barbara, Navis, Gerjan, Kwakernaak, Arjan J., van der Harst, Pim, Bochud, Murielle, Maillard, Marc, Burnier, Michel, Hedner, Thomas, Kjeldsen, Sverre, Wahlstrand, Björn, Sjögren, Marketa, Fava, Cristiano, Montagnana, Martina, Danese, Elisa, Torffvit, Ole, Hedblad, Bo, Snieder, Harold, Connell, John M. C., Brown, Morris, Samani, Nilesh J., Farrall, Martin, Cesana, Giancarlo, Mancia, Giuseppe, Signorini, Stefano, Grassi, Guido, Eyheramendy, Susana, Wichmann, H. Erich, Laan, Maris, Strachan, David P., Sever, Peter, Shields, Denis Colm, Stanton, Alice, Vollenweider, Peter, Teumer, Alexander, Völzke, Henry, Rettig, Rainer, Newton-Cheh, Christopher, Arora, Pankaj, Zhang, Feng, Soranzo, Nicole, Spector, Timothy D., Lucas, Gavin, Kathiresan, Sekar, Siscovick, David S., Luan, Jian'an, Loos, Ruth J. F., Wareham, Nicholas J., Penninx, Brenda W., Nolte, Ilja M., McBride, Martin, Miller, William H., Nicklin, Stuart A., Baker, Andrew H., Graham, Delyth, McDonald, Robert A., Pell, Jill P., Sattar, Naveed, Welsh, Paul, Global BPgen Consortium, Munroe, Patricia, Caulfield, Mark J., Zanchetti, Alberto, Dominiczak, Anna F.·2010·PLoS Genetics
DOI 10.1371/journal.pgen.1001177
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Abstract

Hypertension is a heritable and major contributor to the global burden of disease. The sum of rare and common genetic variants robustly identified so far explain only 1%-2% of the population variation in BP and hypertension. This suggests the existence of more undiscovered common variants. We conducted a genome-wide association study in 1,621 hypertensive cases and 1,699 controls and follow-up validation analyses in 19,845 cases and 16,541 controls using an extreme case-control design. We identified a locus on chromosome 16 in the 5' region of Uromodulin (UMOD; rs13333226, combined P value of 3.6 × 10⁻¹¹). The minor G allele is associated with a lower risk of hypertension (OR [95%CI]: 0.87 [0.84-0.91]), reduced urinary uromodulin excretion, better renal function; and each copy of the G allele is associated with a 7.7% reduction in risk of CVD events after adjusting for age, sex, BMI, and smoking status (H.R. = 0.923, 95% CI 0.860-0.991; p = 0.027). In a subset of 13,446 individuals with estimated glomerular filtration rate (eGFR) measurements, we show that rs13333226 is independently associated with hypertension (unadjusted for eGFR: 0.89 [0.83-0.96], p = 0.004; after eGFR adjustment: 0.89 [0.83-0.96], p = 0.003). In clinical functional studies, we also consistently show the minor G allele is associated with lower urinary uromodulin excretion. The exclusive expression of uromodulin in the thick portion of the ascending limb of Henle suggests a putative role of this variant in hypertension through an effect on sodium homeostasis. The newly discovered UMOD locus for hypertension has the potential to give new insights into the role of uromodulin in BP regulation and to identify novel drugable targets for reducing cardiovascular risk.

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Authors
Padmanabhan, S., Melander, O., Johnson, T., Di Blasio, A. M., Lee, W. K., Gentilini, D., Hastie, C. E., Menni, C., Monti, M. C., Delles, C., Laing, S., Corso, B., Navis, G., Kwakernaak, A. J., van der Harst, P., Bochud, M., Maillard, M., Burnier, M., Hedner, T., Kjeldsen, S., Wahlstrand, B., Sjögren, M., Fava, C., Montagnana, M., Danese, E., Torffvit, O., Hedblad, B., Snieder, H., Connell, J. M. C., Brown, M., Samani, N. J., Farrall, M., Cesana, G., Mancia, G., Signorini, S., Grassi, G., Eyheramendy, S., Wichmann, H. E., Laan, M., Strachan, D. P., Sever, P., Shields, D. C., Stanton, A., Vollenweider, P., Teumer, A., Völzke, H., Rettig, R., Newton-Cheh, C., Arora, P., Zhang, F., Soranzo, N., Spector, T. D., Lucas, G., Kathiresan, S., Siscovick, D. S., Luan, J., Loos, R. J. F., Wareham, N. J., Penninx, B. W., Nolte, I. M., McBride, M., Miller, W. H., Nicklin, S. A., Baker, A. H., Graham, D., McDonald, R. A., Pell, J. P., Sattar, N., Welsh, P., Global BPgen Consortium, Munroe, P., Caulfield, M. J., Zanchetti, A., & Dominiczak, A. F.
Venue
PLoS Genetics
Publisher
Public Library of Science (PLoS)
Published
2010-10-28
Volume
6
Issue
10
Pages
e1001177
ISSN
  • 1553-7390 (ISSN-L)
  • 1553-7404
DOI
10.1371/journal.pgen.1001177
OpenAlex
W2120798274
Cited by
405
References
37
FWCI
19.42
Type
journal article
Language
en
Open access
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CoChat. (2026). Citation check: Genome-Wide Association Study of Blood Pressure Extremes Identifies Variant near UMOD Associated with Hypertension. https://app.cochat.ai/papers/10.1371/journal.pgen.1001177
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Padmanabhan, S., Melander, O., Johnson, T., Di Blasio, A. M., Lee, W. K., Gentilini, D., Hastie, C. E., Menni, C., Monti, M. C., Delles, C., Laing, S., Corso, B., Navis, G., Kwakernaak, A. J., van der Harst, P., Bochud, M., Maillard, M., Burnier, M., Hedner, T., . . . Dominiczak, A. F. (2010). Genome-Wide Association Study of Blood Pressure Extremes Identifies Variant near UMOD Associated with Hypertension. PLoS Genetics. https://doi.org/10.1371/journal.pgen.1001177

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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

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